ALPK1 (alpha kinase 1) - Rat Genome Database

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Gene: ALPK1 (alpha kinase 1) Homo sapiens
Analyze
Symbol: ALPK1
Name: alpha kinase 1
RGD ID: 1351787
HGNC Page HGNC:20917
Description: Enables monosaccharide binding activity and protein serine/threonine kinase activity. Involved in several processes, including cilium assembly; cytoplasmic pattern recognition receptor signaling pathway; and positive regulation of canonical NF-kappaB signal transduction. Located in cilium; cytosol; and microtubule cytoskeleton.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 8430410J10Rik; alpha-kinase 1; alpha-protein kinase 1; chromosome 4 kinase; FLJ22670; KIAA1527; LAK; lymphocyte alpha-kinase; lymphocyte alpha-protein kinase; ROSAH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384112,297,369 - 112,442,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4112,285,509 - 112,442,621 (+)EnsemblGRCh38hg38GRCh38
GRCh374113,218,525 - 113,363,777 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364113,437,948 - 113,583,223 (+)NCBINCBI36Build 36hg18NCBI36
Build 344113,656,455 - 113,720,433NCBI
Celera4110,512,576 - 110,657,856 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4108,950,042 - 109,095,428 (+)NCBIHuRef
CHM1_14113,195,311 - 113,340,525 (+)NCBICHM1_1
T2T-CHM13v2.04115,605,712 - 115,750,965 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
centrosome  (IDA,IEA)
cilium  (IBA,IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IDA,IEA,TAS)
photoreceptor connecting cilium  (ISO)
spindle pole  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10021370   PMID:10737800   PMID:10819331   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15221005   PMID:15489334   PMID:15883161   PMID:16344560   PMID:20332099   PMID:21208416  
PMID:21799462   PMID:21822924   PMID:21873635   PMID:22020285   PMID:22484627   PMID:22623531   PMID:22939624   PMID:23539754   PMID:23569188   PMID:25326865   PMID:26186194   PMID:26673895  
PMID:27169898   PMID:27283888   PMID:27829216   PMID:28222186   PMID:28514442   PMID:28877472   PMID:29215084   PMID:30111836   PMID:30315765   PMID:30967659   PMID:31101826   PMID:31123889  
PMID:31557402   PMID:31939038   PMID:33037203   PMID:33961781   PMID:36098982   PMID:36931259   PMID:36932045   PMID:38494837   PMID:38935811  


Genomics

Comparative Map Data
ALPK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384112,297,369 - 112,442,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4112,285,509 - 112,442,621 (+)EnsemblGRCh38hg38GRCh38
GRCh374113,218,525 - 113,363,777 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364113,437,948 - 113,583,223 (+)NCBINCBI36Build 36hg18NCBI36
Build 344113,656,455 - 113,720,433NCBI
Celera4110,512,576 - 110,657,856 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4108,950,042 - 109,095,428 (+)NCBIHuRef
CHM1_14113,195,311 - 113,340,525 (+)NCBICHM1_1
T2T-CHM13v2.04115,605,712 - 115,750,965 (+)NCBIT2T-CHM13v2.0
Alpk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393127,460,367 - 127,574,195 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3127,463,959 - 127,574,176 (-)EnsemblGRCm39 Ensembl
GRCm383127,666,718 - 127,780,547 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3127,670,310 - 127,780,527 (-)EnsemblGRCm38mm10GRCm38
MGSCv373127,373,228 - 127,483,445 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363127,662,332 - 127,772,549 (-)NCBIMGSCv36mm8
Celera3134,160,957 - 134,282,674 (-)NCBICelera
Cytogenetic Map3G2NCBI
cM Map356.54NCBI
Alpk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82218,801,425 - 218,924,013 (-)NCBIGRCr8
mRatBN7.22216,126,939 - 216,247,180 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2216,128,825 - 216,247,157 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.02231,997,360 - 232,117,471 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2231,996,088 - 232,117,134 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02251,345,268 - 251,462,165 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42224,934,194 - 224,989,819 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12224,888,846 - 224,988,527 (-)NCBI
Celera2208,443,568 - 208,559,107 (-)NCBICelera
Cytogenetic Map2q42NCBI
Alpk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545714,325,281 - 14,379,937 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545714,325,278 - 14,444,368 (-)NCBIChiLan1.0ChiLan1.0
ALPK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23110,372,767 - 110,517,166 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14110,666,192 - 110,813,772 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04104,786,721 - 104,931,981 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14115,349,826 - 115,495,026 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4115,430,258 - 115,495,026 (+)Ensemblpanpan1.1panPan2
ALPK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13232,135,110 - 32,270,732 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3232,136,738 - 32,267,264 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha329,763,410 - 9,897,996 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03232,358,805 - 32,493,869 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3232,364,919 - 32,493,694 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13232,341,883 - 32,476,840 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03232,102,803 - 32,237,847 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0327,622,218 - 7,758,515 (-)NCBIUU_Cfam_GSD_1.0
Alpk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053018,612,620 - 8,737,685 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365633,235,181 - 3,296,257 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365633,233,913 - 3,296,671 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALPK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8110,241,619 - 110,367,912 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18110,241,220 - 110,368,001 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28118,153,267 - 118,184,844 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALPK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1760,096,755 - 60,233,569 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl760,202,204 - 60,236,743 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603738,857,444 - 38,994,232 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Alpk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248386,229,899 - 6,287,920 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248386,273,398 - 6,288,363 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALPK1
570 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
NM_001102406.1(ALPK1):c.2296G>A (p.Gly766Arg) single nucleotide variant Malignant melanoma [RCV000066244] Chr4:112431843 [GRCh38]
Chr4:113352999 [GRCh37]
Chr4:113572448 [NCBI36]
Chr4:4q25		 not provided
NM_001102406.1(ALPK1):c.-49+20506A>T single nucleotide variant Lung cancer [RCV000093963] Chr4:112336358 [GRCh38]
Chr4:113257514 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.638C>T (p.Ala213Val) single nucleotide variant not provided [RCV001310495] Chr4:112426482 [GRCh38]
Chr4:113347638 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1 copy number loss See cases [RCV000134955] Chr4:111069785..116691879 [GRCh38]
Chr4:111990941..117613035 [GRCh37]
Chr4:112210390..117832483 [NCBI36]
Chr4:4q25-26		 likely pathogenic
NC_000004.10:g.111994000_115504000del3510001 deletion Congenital aniridia [RCV000257787] Chr4:110853395..114363395 [GRCh38]
Chr4:111774551..115284551 [GRCh37]
Chr4:111994000..115504000 [NCBI36]
Chr4:4q25-26		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-26(chr4:112857598-115434654)x1 copy number loss See cases [RCV000448547] Chr4:112857598..115434654 [GRCh37]
Chr4:4q25-26		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25(chr4:112901280-113403129)x1 copy number loss not provided [RCV000682445] Chr4:112901280..113403129 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25(chr4:113175966-113835185)x1 copy number loss not provided [RCV000743921] Chr4:113175966..113835185 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q25(chr4:113230857-113231991)x1 copy number loss not provided [RCV000743922] Chr4:113230857..113231991 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4q25(chr4:113231181-113231991)x1 copy number loss not provided [RCV000743923] Chr4:113231181..113231991 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_025144.4(ALPK1):c.200A>G (p.Gln67Arg) single nucleotide variant not provided [RCV000951072] Chr4:112382476 [GRCh38]
Chr4:113303632 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3350T>C (p.Leu1117Pro) single nucleotide variant not provided [RCV000968938] Chr4:112438645 [GRCh38]
Chr4:113359801 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2618G>T (p.Arg873Ile) single nucleotide variant not provided [RCV000973637] Chr4:112432165 [GRCh38]
Chr4:113353321 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) single nucleotide variant ALPK1-related disorder [RCV003947961]|Inborn genetic diseases [RCV004629319]|Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV001263103]|not provided [RCV001389989] Chr4:112427580 [GRCh38]
Chr4:113348736 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
GRCh37/hg19 4q25(chr4:113116277-113602286)x3 copy number gain not provided [RCV000847514] Chr4:113116277..113602286 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.582G>A (p.Ser194=) single nucleotide variant not provided [RCV003106877] Chr4:112425711 [GRCh38]
Chr4:113346867 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.256G>C (p.Ala86Pro) single nucleotide variant not provided [RCV003107062] Chr4:112382532 [GRCh38]
Chr4:113303688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.*256C>G single nucleotide variant not provided [RCV001639479] Chr4:112441466 [GRCh38]
Chr4:113362622 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2206C>T (p.Pro736Ser) single nucleotide variant Inborn genetic diseases [RCV003275545]|not provided [RCV003561277] Chr4:112431753 [GRCh38]
Chr4:113352909 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1593C>T (p.Leu531=) single nucleotide variant not provided [RCV000931552] Chr4:112431140 [GRCh38]
Chr4:113352296 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2655G>A (p.Ala885=) single nucleotide variant not provided [RCV000953716] Chr4:112432202 [GRCh38]
Chr4:113353358 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.1152A>C (p.Glu384Asp) single nucleotide variant not provided [RCV003233458] Chr4:112430699 [GRCh38]
Chr4:113351855 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2196G>A (p.Met732Ile) single nucleotide variant not provided [RCV001649312] Chr4:112431743 [GRCh38]
Chr4:113352899 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1694G>A (p.Gly565Asp) single nucleotide variant not provided [RCV001675003] Chr4:112431241 [GRCh38]
Chr4:113352397 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4q25(chr4:111334313-113223858)x1 copy number loss not provided [RCV001259302] Chr4:111334313..113223858 [GRCh37]
Chr4:4q25		 pathogenic
NM_025144.4(ALPK1):c.2582T>C (p.Met861Thr) single nucleotide variant not provided [RCV001688541] Chr4:112432129 [GRCh38]
Chr4:113353285 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1925A>G (p.His642Arg) single nucleotide variant not provided [RCV001536759] Chr4:112431472 [GRCh38]
Chr4:113352628 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.374G>T (p.Gly125Val) single nucleotide variant not provided [RCV003108674] Chr4:112411924 [GRCh38]
Chr4:113333080 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q25(chr4:112481911-113756889) copy number gain Neurodevelopmental delay [RCV002280697] Chr4:112481911..113756889 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q25-26(chr4:112849108-115434557) copy number loss not specified [RCV002053449] Chr4:112849108..115434557 [GRCh37]
Chr4:4q25-26		 likely pathogenic
NM_025144.4(ALPK1):c.157G>A (p.Glu53Lys) single nucleotide variant not provided [RCV003110699] Chr4:112382433 [GRCh38]
Chr4:113303589 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.886G>A (p.Val296Met) single nucleotide variant not provided [RCV003112373] Chr4:112429239 [GRCh38]
Chr4:113350395 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.534G>A (p.Thr178=) single nucleotide variant not provided [RCV003115880] Chr4:112424002 [GRCh38]
Chr4:113345158 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1680G>A (p.Ser560=) single nucleotide variant not provided [RCV003114810] Chr4:112431227 [GRCh38]
Chr4:113352383 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2582_2583inv (p.Met861Thr) inversion not provided [RCV003117297] Chr4:112432129..112432130 [GRCh38]
Chr4:113353285..113353286 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2375_2389del (p.Ala792_Glu796del) deletion not provided [RCV003112293] Chr4:112431920..112431934 [GRCh38]
Chr4:113353076..113353090 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1912A>G (p.Met638Val) single nucleotide variant Inborn genetic diseases [RCV004244595]|not provided [RCV003115149] Chr4:112431459 [GRCh38]
Chr4:113352615 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2532C>T (p.Ile844=) single nucleotide variant not provided [RCV003115150] Chr4:112432079 [GRCh38]
Chr4:113353235 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1312G>A (p.Glu438Lys) single nucleotide variant not provided [RCV003120017] Chr4:112430859 [GRCh38]
Chr4:113352015 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2503A>C (p.Ser835Arg) single nucleotide variant not provided [RCV003120040] Chr4:112432050 [GRCh38]
Chr4:113353206 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.582G>T (p.Ser194=) single nucleotide variant not provided [RCV003121117] Chr4:112425711 [GRCh38]
Chr4:113346867 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.23C>A (p.Ala8Asp) single nucleotide variant not provided [RCV003121162] Chr4:112377800 [GRCh38]
Chr4:113298956 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3351+5G>T single nucleotide variant Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003148352] Chr4:112438651 [GRCh38]
Chr4:113359807 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2029C>T (p.His677Tyr) single nucleotide variant not provided [RCV002303958] Chr4:112431576 [GRCh38]
Chr4:113352732 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.523A>C (p.Asn175His) single nucleotide variant not provided [RCV002304052] Chr4:112423991 [GRCh38]
Chr4:113345147 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1612A>C (p.Asn538His) single nucleotide variant not provided [RCV002304454] Chr4:112431159 [GRCh38]
Chr4:113352315 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1234A>G (p.Ile412Val) single nucleotide variant not provided [RCV002302042] Chr4:112430781 [GRCh38]
Chr4:113351937 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.92A>C (p.Glu31Ala) single nucleotide variant not provided [RCV002299412] Chr4:112377869 [GRCh38]
Chr4:113299025 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3092T>C (p.Ile1031Thr) single nucleotide variant not provided [RCV002302227] Chr4:112435205 [GRCh38]
Chr4:113356361 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1913T>C (p.Met638Thr) single nucleotide variant not provided [RCV002301848] Chr4:112431460 [GRCh38]
Chr4:113352616 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2380A>C (p.Ser794Arg) single nucleotide variant not provided [RCV002301912] Chr4:112431927 [GRCh38]
Chr4:113353083 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.947G>C (p.Cys316Ser) single nucleotide variant not provided [RCV003074138] Chr4:112430494 [GRCh38]
Chr4:113351650 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.692A>G (p.Asp231Gly) single nucleotide variant ALPK1-related disorder [RCV003963529]|Inborn genetic diseases [RCV002979198]|not provided [RCV002972238] Chr4:112426536 [GRCh38]
Chr4:113347692 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.2989G>C (p.Glu997Gln) single nucleotide variant not provided [RCV002614494] Chr4:112432536 [GRCh38]
Chr4:113353692 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3451_3452del (p.Glu1151fs) deletion ALPK1-related disorder [RCV003926491]|not provided [RCV002903467] Chr4:112439784..112439785 [GRCh38]
Chr4:113360940..113360941 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2517C>T (p.Val839=) single nucleotide variant not provided [RCV002751492] Chr4:112432064 [GRCh38]
Chr4:113353220 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2455A>G (p.Ser819Gly) single nucleotide variant not provided [RCV002616640] Chr4:112432002 [GRCh38]
Chr4:113353158 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2819G>T (p.Gly940Val) single nucleotide variant not provided [RCV002993836] Chr4:112432366 [GRCh38]
Chr4:113353522 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.992C>T (p.Ala331Val) single nucleotide variant not provided [RCV002776354] Chr4:112430539 [GRCh38]
Chr4:113351695 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3250C>T (p.Arg1084Ter) single nucleotide variant not provided [RCV002994416] Chr4:112438545 [GRCh38]
Chr4:113359701 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.87G>A (p.Ser29=) single nucleotide variant not provided [RCV002971272] Chr4:112377864 [GRCh38]
Chr4:113299020 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2948T>C (p.Leu983Pro) single nucleotide variant Inborn genetic diseases [RCV002905210] Chr4:112432495 [GRCh38]
Chr4:113353651 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1576A>G (p.Asn526Asp) single nucleotide variant not provided [RCV002819365] Chr4:112431123 [GRCh38]
Chr4:113352279 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.75G>A (p.Ala25=) single nucleotide variant not provided [RCV002908754] Chr4:112377852 [GRCh38]
Chr4:113299008 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3192T>C (p.Tyr1064=) single nucleotide variant not provided [RCV002858253] Chr4:112438487 [GRCh38]
Chr4:113359643 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2080G>C (p.Ala694Pro) single nucleotide variant not provided [RCV002795108] Chr4:112431627 [GRCh38]
Chr4:113352783 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3343A>G (p.Ile1115Val) single nucleotide variant not provided [RCV002947150] Chr4:112438638 [GRCh38]
Chr4:113359794 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1250A>T (p.Glu417Val) single nucleotide variant Inborn genetic diseases [RCV003269338]|not provided [RCV002948081] Chr4:112430797 [GRCh38]
Chr4:113351953 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.131C>T (p.Pro44Leu) single nucleotide variant not provided [RCV002975014] Chr4:112382407 [GRCh38]
Chr4:113303563 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3425C>G (p.Ser1142Ter) single nucleotide variant not provided [RCV002843849] Chr4:112439759 [GRCh38]
Chr4:113360915 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1376A>G (p.Tyr459Cys) single nucleotide variant not provided [RCV002972250] Chr4:112430923 [GRCh38]
Chr4:113352079 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1122G>A (p.Thr374=) single nucleotide variant not provided [RCV002882241] Chr4:112430669 [GRCh38]
Chr4:113351825 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2380del (p.Ser794fs) deletion not provided [RCV002819956] Chr4:112431925 [GRCh38]
Chr4:113353081 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.875C>T (p.Thr292Met) single nucleotide variant not provided [RCV002975666] Chr4:112429228 [GRCh38]
Chr4:113350384 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1979C>T (p.Pro660Leu) single nucleotide variant not provided [RCV002947878] Chr4:112431526 [GRCh38]
Chr4:113352682 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2706C>T (p.Ser902=) single nucleotide variant not provided [RCV002908914] Chr4:112432253 [GRCh38]
Chr4:113353409 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1830G>T (p.Glu610Asp) single nucleotide variant not provided [RCV002618468] Chr4:112431377 [GRCh38]
Chr4:113352533 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1465T>G (p.Cys489Gly) single nucleotide variant not provided [RCV002618750] Chr4:112431012 [GRCh38]
Chr4:113352168 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1894G>C (p.Asp632His) single nucleotide variant ALPK1-related disorder [RCV003916679]|not provided [RCV002975374] Chr4:112431441 [GRCh38]
Chr4:113352597 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2533G>C (p.Asp845His) single nucleotide variant not provided [RCV002970681] Chr4:112432080 [GRCh38]
Chr4:113353236 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2339C>G (p.Ala780Gly) single nucleotide variant not provided [RCV003015818] Chr4:112431886 [GRCh38]
Chr4:113353042 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.504G>A (p.Leu168=) single nucleotide variant not provided [RCV002994415] Chr4:112423972 [GRCh38]
Chr4:113345128 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2320G>A (p.Ala774Thr) single nucleotide variant not provided [RCV003074143] Chr4:112431867 [GRCh38]
Chr4:113353023 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1544A>T (p.Asp515Val) single nucleotide variant Inborn genetic diseases [RCV002728536] Chr4:112431091 [GRCh38]
Chr4:113352247 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.103G>A (p.Glu35Lys) single nucleotide variant not provided [RCV002968015] Chr4:112377880 [GRCh38]
Chr4:113299036 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.699G>A (p.Lys233=) single nucleotide variant not provided [RCV002971062] Chr4:112426543 [GRCh38]
Chr4:113347699 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.475+13del deletion not provided [RCV002776501] Chr4:112412037 [GRCh38]
Chr4:113333193 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3529G>A (p.Asp1177Asn) single nucleotide variant Inborn genetic diseases [RCV002773286]|not provided [RCV003777762] Chr4:112439863 [GRCh38]
Chr4:113361019 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1225A>G (p.Met409Val) single nucleotide variant not provided [RCV002615512] Chr4:112430772 [GRCh38]
Chr4:113351928 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1511G>A (p.Ser504Asn) single nucleotide variant not provided [RCV002971273] Chr4:112431058 [GRCh38]
Chr4:113352214 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2412G>C (p.Arg804Ser) single nucleotide variant Inborn genetic diseases [RCV002994821]|not provided [RCV002994822] Chr4:112431959 [GRCh38]
Chr4:113353115 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1826A>G (p.Lys609Arg) single nucleotide variant not provided [RCV002967512] Chr4:112431373 [GRCh38]
Chr4:113352529 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.478A>C (p.Lys160Gln) single nucleotide variant Inborn genetic diseases [RCV002840032] Chr4:112423946 [GRCh38]
Chr4:113345102 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.136G>A (p.Glu46Lys) single nucleotide variant not provided [RCV002967534] Chr4:112382412 [GRCh38]
Chr4:113303568 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.274C>T (p.Leu92=) single nucleotide variant not provided [RCV002838559] Chr4:112382550 [GRCh38]
Chr4:113303706 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3311T>C (p.Ile1104Thr) single nucleotide variant not provided [RCV002617091] Chr4:112438606 [GRCh38]
Chr4:113359762 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1688G>A (p.Ser563Asn) single nucleotide variant not provided [RCV003034224] Chr4:112431235 [GRCh38]
Chr4:113352391 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2778A>G (p.Ser926=) single nucleotide variant not provided [RCV002908249] Chr4:112432325 [GRCh38]
Chr4:113353481 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.54G>A (p.Leu18=) single nucleotide variant ALPK1-related disorder [RCV003961298]|not provided [RCV002975031] Chr4:112377831 [GRCh38]
Chr4:113298987 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2252C>A (p.Pro751Gln) single nucleotide variant not provided [RCV002616810] Chr4:112431799 [GRCh38]
Chr4:113352955 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2607C>T (p.His869=) single nucleotide variant not provided [RCV002995272] Chr4:112432154 [GRCh38]
Chr4:113353310 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.959T>G (p.Leu320Trp) single nucleotide variant not provided [RCV002907881] Chr4:112430506 [GRCh38]
Chr4:113351662 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2565G>C (p.Gly855=) single nucleotide variant not provided [RCV002613817] Chr4:112432112 [GRCh38]
Chr4:113353268 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.84G>A (p.Val28=) single nucleotide variant not provided [RCV002616233] Chr4:112377861 [GRCh38]
Chr4:113299017 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2130T>C (p.Ser710=) single nucleotide variant not provided [RCV002571992] Chr4:112431677 [GRCh38]
Chr4:113352833 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3188+16A>C single nucleotide variant not provided [RCV002663103] Chr4:112435317 [GRCh38]
Chr4:113356473 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3462_3497del (p.Thr1155_Tyr1166del) deletion not provided [RCV003022006] Chr4:112439796..112439831 [GRCh38]
Chr4:113360952..113360987 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1904G>A (p.Gly635Asp) single nucleotide variant not provided [RCV002740414] Chr4:112431451 [GRCh38]
Chr4:113352607 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3400A>T (p.Ile1134Leu) single nucleotide variant not provided [RCV002999267] Chr4:112439734 [GRCh38]
Chr4:113360890 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3035-6del deletion not provided [RCV002569823] Chr4:112435134 [GRCh38]
Chr4:113356290 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.465del (p.Ser155_Val156insTer) deletion not provided [RCV002591988] Chr4:112412014 [GRCh38]
Chr4:113333170 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2660C>T (p.Thr887Ile) single nucleotide variant not provided [RCV002786130] Chr4:112432207 [GRCh38]
Chr4:113353363 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.1562C>T (p.Ser521Phe) single nucleotide variant not provided [RCV002639982] Chr4:112431109 [GRCh38]
Chr4:113352265 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2608G>A (p.Gly870Ser) single nucleotide variant not provided [RCV002913197] Chr4:112432155 [GRCh38]
Chr4:113353311 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.476-7_476-3del deletion not provided [RCV002662909] Chr4:112423936..112423940 [GRCh38]
Chr4:113345092..113345096 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2295G>A (p.Gln765=) single nucleotide variant not provided [RCV002914235] Chr4:112431842 [GRCh38]
Chr4:113352998 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1369G>A (p.Asp457Asn) single nucleotide variant Inborn genetic diseases [RCV002706685]|not provided [RCV002706684] Chr4:112430916 [GRCh38]
Chr4:113352072 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.489A>G (p.Lys163=) single nucleotide variant not provided [RCV002927779] Chr4:112423957 [GRCh38]
Chr4:113345113 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2994dup (p.Thr999fs) duplication not provided [RCV002927780] Chr4:112432540..112432541 [GRCh38]
Chr4:113353696..113353697 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1978C>G (p.Pro660Ala) single nucleotide variant Inborn genetic diseases [RCV002799211]|not provided [RCV003777785] Chr4:112431525 [GRCh38]
Chr4:113352681 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3185G>A (p.Gly1062Glu) single nucleotide variant Inborn genetic diseases [RCV003039311]|not provided [RCV003039310] Chr4:112435298 [GRCh38]
Chr4:113356454 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1941T>G (p.Asp647Glu) single nucleotide variant not provided [RCV002927744] Chr4:112431488 [GRCh38]
Chr4:113352644 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.340G>C (p.Val114Leu) single nucleotide variant not provided [RCV002705355] Chr4:112411890 [GRCh38]
Chr4:113333046 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.122-16A>G single nucleotide variant not provided [RCV003035487] Chr4:112382382 [GRCh38]
Chr4:113303538 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.557A>G (p.Glu186Gly) single nucleotide variant Inborn genetic diseases [RCV004064331]|not provided [RCV002571957] Chr4:112425686 [GRCh38]
Chr4:113346842 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.835G>T (p.Ala279Ser) single nucleotide variant Inborn genetic diseases [RCV002823247] Chr4:112429188 [GRCh38]
Chr4:113350344 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3352-15A>G single nucleotide variant not provided [RCV003019610] Chr4:112439671 [GRCh38]
Chr4:113360827 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2973G>A (p.Trp991Ter) single nucleotide variant not provided [RCV002885010] Chr4:112432520 [GRCh38]
Chr4:113353676 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.259G>A (p.Gly87Arg) single nucleotide variant Inborn genetic diseases [RCV002782080] Chr4:112382535 [GRCh38]
Chr4:113303691 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1810G>A (p.Asp604Asn) single nucleotide variant Inborn genetic diseases [RCV002909724]|not provided [RCV002927831] Chr4:112431357 [GRCh38]
Chr4:113352513 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.700-3C>T single nucleotide variant not provided [RCV002638030] Chr4:112427567 [GRCh38]
Chr4:113348723 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1020A>T (p.Arg340Ser) single nucleotide variant not provided [RCV002694844] Chr4:112430567 [GRCh38]
Chr4:113351723 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1944C>T (p.Leu648=) single nucleotide variant not provided [RCV002948918] Chr4:112431491 [GRCh38]
Chr4:113352647 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2918G>A (p.Arg973His) single nucleotide variant not provided [RCV002923652] Chr4:112432465 [GRCh38]
Chr4:113353621 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.355T>C (p.Tyr119His) single nucleotide variant Inborn genetic diseases [RCV002759271] Chr4:112411905 [GRCh38]
Chr4:113333061 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2346C>A (p.Pro782=) single nucleotide variant not provided [RCV002591401] Chr4:112431893 [GRCh38]
Chr4:113353049 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1024G>C (p.Asp342His) single nucleotide variant not provided [RCV002619335] Chr4:112430571 [GRCh38]
Chr4:113351727 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2437A>G (p.Ile813Val) single nucleotide variant not provided [RCV002795193] Chr4:112431984 [GRCh38]
Chr4:113353140 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2587G>A (p.Val863Ile) single nucleotide variant Inborn genetic diseases [RCV004634188]|not provided [RCV002620041] Chr4:112432134 [GRCh38]
Chr4:113353290 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.465C>T (p.Ser155=) single nucleotide variant not provided [RCV002797278] Chr4:112412015 [GRCh38]
Chr4:113333171 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1739C>G (p.Ser580Cys) single nucleotide variant Inborn genetic diseases [RCV002848594] Chr4:112431286 [GRCh38]
Chr4:113352442 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2177C>G (p.Ser726Cys) single nucleotide variant Inborn genetic diseases [RCV002694484]|not provided [RCV003778590] Chr4:112431724 [GRCh38]
Chr4:113352880 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.475+4T>A single nucleotide variant not provided [RCV002866994] Chr4:112412029 [GRCh38]
Chr4:113333185 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.879G>T (p.Pro293=) single nucleotide variant not provided [RCV002736860] Chr4:112429232 [GRCh38]
Chr4:113350388 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2453G>A (p.Cys818Tyr) single nucleotide variant Inborn genetic diseases [RCV002933977]|not provided [RCV002948966] Chr4:112432000 [GRCh38]
Chr4:113353156 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2639C>T (p.Pro880Leu) single nucleotide variant not provided [RCV002570220] Chr4:112432186 [GRCh38]
Chr4:113353342 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.392C>G (p.Ala131Gly) single nucleotide variant not provided [RCV003038581] Chr4:112411942 [GRCh38]
Chr4:113333098 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2542G>T (p.Ala848Ser) single nucleotide variant not provided [RCV002735249] Chr4:112432089 [GRCh38]
Chr4:113353245 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.86C>T (p.Ser29Leu) single nucleotide variant not provided [RCV002619275] Chr4:112377863 [GRCh38]
Chr4:113299019 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.1804G>C (p.Val602Leu) single nucleotide variant not provided [RCV003053910] Chr4:112431351 [GRCh38]
Chr4:113352507 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2042G>A (p.Gly681Asp) single nucleotide variant not provided [RCV002913429] Chr4:112431589 [GRCh38]
Chr4:113352745 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.336_338del (p.Phe112del) deletion not provided [RCV002756756] Chr4:112411884..112411886 [GRCh38]
Chr4:113333040..113333042 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1804G>A (p.Val602Ile) single nucleotide variant not provided [RCV002658491] Chr4:112431351 [GRCh38]
Chr4:113352507 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.461T>C (p.Ile154Thr) single nucleotide variant Inborn genetic diseases [RCV002691806] Chr4:112412011 [GRCh38]
Chr4:113333167 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.174G>A (p.Lys58=) single nucleotide variant not provided [RCV003020505] Chr4:112382450 [GRCh38]
Chr4:113303606 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3270C>T (p.His1090=) single nucleotide variant not provided [RCV002976125] Chr4:112438565 [GRCh38]
Chr4:113359721 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.135C>T (p.Ser45=) single nucleotide variant not provided [RCV002691016] Chr4:112382411 [GRCh38]
Chr4:113303567 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3728-16G>T single nucleotide variant not provided [RCV002847590] Chr4:112441187 [GRCh38]
Chr4:113362343 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2319C>T (p.Gly773=) single nucleotide variant not provided [RCV002913303] Chr4:112431866 [GRCh38]
Chr4:113353022 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2662C>G (p.Pro888Ala) single nucleotide variant not provided [RCV002847339] Chr4:112432209 [GRCh38]
Chr4:113353365 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.160G>A (p.Ala54Thr) single nucleotide variant not provided [RCV002639304] Chr4:112382436 [GRCh38]
Chr4:113303592 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3538+14G>A single nucleotide variant not provided [RCV002621743] Chr4:112439886 [GRCh38]
Chr4:113361042 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1594A>G (p.Arg532Gly) single nucleotide variant not provided [RCV002739997] Chr4:112431141 [GRCh38]
Chr4:113352297 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1395G>A (p.Ser465=) single nucleotide variant not provided [RCV002913700] Chr4:112430942 [GRCh38]
Chr4:113352098 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3084G>A (p.Gln1028=) single nucleotide variant not provided [RCV002848018] Chr4:112435197 [GRCh38]
Chr4:113356353 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.276G>C (p.Leu92=) single nucleotide variant not provided [RCV002591130] Chr4:112382552 [GRCh38]
Chr4:113303708 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3075G>C (p.Trp1025Cys) single nucleotide variant not provided [RCV002999310] Chr4:112435188 [GRCh38]
Chr4:113356344 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3338C>G (p.Ser1113Cys) single nucleotide variant not provided [RCV002621582] Chr4:112438633 [GRCh38]
Chr4:113359789 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2554G>A (p.Asp852Asn) single nucleotide variant Inborn genetic diseases [RCV002636674]|not provided [RCV002606981] Chr4:112432101 [GRCh38]
Chr4:113353257 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.113G>A (p.Arg38His) single nucleotide variant not provided [RCV002620035] Chr4:112377890 [GRCh38]
Chr4:113299046 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2730A>C (p.Glu910Asp) single nucleotide variant not provided [RCV002913198] Chr4:112432277 [GRCh38]
Chr4:113353433 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2746A>G (p.Asn916Asp) single nucleotide variant not provided [RCV002913200] Chr4:112432293 [GRCh38]
Chr4:113353449 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1350G>A (p.Gly450=) single nucleotide variant not provided [RCV002948827] Chr4:112430897 [GRCh38]
Chr4:113352053 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3651C>T (p.Phe1217=) single nucleotide variant not provided [RCV003054119] Chr4:112441029 [GRCh38]
Chr4:113362185 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3538+15G>A single nucleotide variant not provided [RCV002639413]|not specified [RCV003155486] Chr4:112439887 [GRCh38]
Chr4:113361043 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.2066G>A (p.Gly689Glu) single nucleotide variant not provided [RCV003078742] Chr4:112431613 [GRCh38]
Chr4:113352769 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2917C>T (p.Arg973Cys) single nucleotide variant Inborn genetic diseases [RCV003348932]|not provided [RCV002926703] Chr4:112432464 [GRCh38]
Chr4:113353620 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.2266G>A (p.Asp756Asn) single nucleotide variant not provided [RCV002927096] Chr4:112431813 [GRCh38]
Chr4:113352969 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2722A>G (p.Thr908Ala) single nucleotide variant not provided [RCV003039011] Chr4:112432269 [GRCh38]
Chr4:113353425 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3486C>A (p.Gly1162=) single nucleotide variant not provided [RCV002756773] Chr4:112439820 [GRCh38]
Chr4:113360976 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1569G>A (p.Met523Ile) single nucleotide variant ALPK1-related disorder [RCV003906313]|not provided [RCV002932108] Chr4:112431116 [GRCh38]
Chr4:113352272 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.1302C>T (p.Pro434=) single nucleotide variant not provided [RCV002596116] Chr4:112430849 [GRCh38]
Chr4:113352005 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1686C>T (p.Tyr562=) single nucleotide variant not provided [RCV002595593] Chr4:112431233 [GRCh38]
Chr4:113352389 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3078G>A (p.Thr1026=) single nucleotide variant not provided [RCV003084772] Chr4:112435191 [GRCh38]
Chr4:113356347 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.561T>G (p.Ser187Arg) single nucleotide variant not provided [RCV003024423] Chr4:112425690 [GRCh38]
Chr4:113346846 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.32T>C (p.Leu11Pro) single nucleotide variant ALPK1-related disorder [RCV003395551]|Inborn genetic diseases [RCV002967079]|not provided [RCV002959069] Chr4:112377809 [GRCh38]
Chr4:113298965 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.55G>A (p.Asp19Asn) single nucleotide variant Inborn genetic diseases [RCV003170769]|not provided [RCV002982324] Chr4:112377832 [GRCh38]
Chr4:113298988 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2329A>G (p.Thr777Ala) single nucleotide variant not provided [RCV002917310] Chr4:112431876 [GRCh38]
Chr4:113353032 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2326C>A (p.Pro776Thr) single nucleotide variant not provided [RCV002626922] Chr4:112431873 [GRCh38]
Chr4:113353029 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2221del (p.Glu741fs) deletion not provided [RCV002576011] Chr4:112431768 [GRCh38]
Chr4:113352924 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.276+2T>C single nucleotide variant not provided [RCV002740963] Chr4:112382554 [GRCh38]
Chr4:113303710 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3251_3252delinsAG (p.Arg1084Gln) indel not provided [RCV003085877] Chr4:112438546..112438547 [GRCh38]
Chr4:113359702..113359703 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3025C>G (p.Arg1009Gly) single nucleotide variant ALPK1-related disorder [RCV003963504]|not provided [RCV002958998] Chr4:112432572 [GRCh38]
Chr4:113353728 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1311C>G (p.Phe437Leu) single nucleotide variant Inborn genetic diseases [RCV002984473]|not provided [RCV003575015] Chr4:112430858 [GRCh38]
Chr4:113352014 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1758A>T (p.Leu586Phe) single nucleotide variant not provided [RCV002667260] Chr4:112431305 [GRCh38]
Chr4:113352461 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3161A>G (p.His1054Arg) single nucleotide variant Inborn genetic diseases [RCV002986185] Chr4:112435274 [GRCh38]
Chr4:113356430 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3488A>G (p.His1163Arg) single nucleotide variant Inborn genetic diseases [RCV002874181]|not provided [RCV003777875] Chr4:112439822 [GRCh38]
Chr4:113360978 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2380A>G (p.Ser794Gly) single nucleotide variant not provided [RCV002627023] Chr4:112431927 [GRCh38]
Chr4:113353083 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1106A>T (p.His369Leu) single nucleotide variant not provided [RCV002958843] Chr4:112430653 [GRCh38]
Chr4:113351809 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2009C>T (p.Pro670Leu) single nucleotide variant not provided [RCV003085668] Chr4:112431556 [GRCh38]
Chr4:113352712 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3094G>A (p.Val1032Ile) single nucleotide variant not provided [RCV002597100] Chr4:112435207 [GRCh38]
Chr4:113356363 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.885C>T (p.Phe295=) single nucleotide variant not provided [RCV003005168] Chr4:112429238 [GRCh38]
Chr4:113350394 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2904G>C (p.Glu968Asp) single nucleotide variant ALPK1-related disorder [RCV003963439]|not provided [RCV002933149] Chr4:112432451 [GRCh38]
Chr4:113353607 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3542G>C (p.Trp1181Ser) single nucleotide variant not provided [RCV002828303] Chr4:112440920 [GRCh38]
Chr4:113362076 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2771C>G (p.Ser924Cys) single nucleotide variant Inborn genetic diseases [RCV003167935]|not provided [RCV002931845] Chr4:112432318 [GRCh38]
Chr4:113353474 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.2246A>C (p.Glu749Ala) single nucleotide variant not provided [RCV002595076] Chr4:112431793 [GRCh38]
Chr4:113352949 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2225A>C (p.Glu742Ala) single nucleotide variant not provided [RCV003041968] Chr4:112431772 [GRCh38]
Chr4:113352928 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3348A>G (p.Leu1116=) single nucleotide variant not provided [RCV002954111] Chr4:112438643 [GRCh38]
Chr4:113359799 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.900+7G>A single nucleotide variant not provided [RCV002574804] Chr4:112429260 [GRCh38]
Chr4:113350416 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1147A>G (p.Lys383Glu) single nucleotide variant not provided [RCV002928322] Chr4:112430694 [GRCh38]
Chr4:113351850 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.3597C>T (p.Ser1199=) single nucleotide variant not provided [RCV002953999] Chr4:112440975 [GRCh38]
Chr4:113362131 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1785G>A (p.Trp595Ter) single nucleotide variant not provided [RCV002928335] Chr4:112431332 [GRCh38]
Chr4:113352488 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2620C>G (p.Leu874Val) single nucleotide variant not provided [RCV002828528] Chr4:112432167 [GRCh38]
Chr4:113353323 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3032A>G (p.His1011Arg) single nucleotide variant not provided [RCV002931857] Chr4:112432579 [GRCh38]
Chr4:113353735 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1875G>T (p.Leu625Phe) single nucleotide variant Inborn genetic diseases [RCV002625287]|not provided [RCV002625286] Chr4:112431422 [GRCh38]
Chr4:113352578 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.348del (p.Phe117fs) deletion not provided [RCV002802196] Chr4:112411897 [GRCh38]
Chr4:113333053 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1988dup (p.Asn663fs) duplication not provided [RCV002829200] Chr4:112431531..112431532 [GRCh38]
Chr4:113352687..113352688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.690G>A (p.Pro230=) single nucleotide variant not provided [RCV003056329] Chr4:112426534 [GRCh38]
Chr4:113347690 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2021_2028del (p.Phe674fs) deletion not provided [RCV002625534] Chr4:112431565..112431572 [GRCh38]
Chr4:113352721..113352728 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.523A>G (p.Asn175Asp) single nucleotide variant not provided [RCV003024422] Chr4:112423991 [GRCh38]
Chr4:113345147 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.575T>G (p.Val192Gly) single nucleotide variant not provided [RCV003005986] Chr4:112425704 [GRCh38]
Chr4:113346860 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.900+6C>T single nucleotide variant not provided [RCV003024424] Chr4:112429259 [GRCh38]
Chr4:113350415 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2996C>T (p.Thr999Met) single nucleotide variant not provided [RCV002953913] Chr4:112432543 [GRCh38]
Chr4:113353699 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.431C>T (p.Ala144Val) single nucleotide variant not provided [RCV003059499] Chr4:112411981 [GRCh38]
Chr4:113333137 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3301G>A (p.Glu1101Lys) single nucleotide variant not provided [RCV003024426] Chr4:112438596 [GRCh38]
Chr4:113359752 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2886G>A (p.Pro962=) single nucleotide variant not provided [RCV002954264] Chr4:112432433 [GRCh38]
Chr4:113353589 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2980C>T (p.Gln994Ter) single nucleotide variant not provided [RCV002852480] Chr4:112432527 [GRCh38]
Chr4:113353683 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3094G>T (p.Val1032Phe) single nucleotide variant Inborn genetic diseases [RCV002654838]|not provided [RCV002644245] Chr4:112435207 [GRCh38]
Chr4:113356363 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3035-6T>C single nucleotide variant not provided [RCV002919254] Chr4:112435142 [GRCh38]
Chr4:113356298 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2391T>C (p.Asp797=) single nucleotide variant not provided [RCV002597051] Chr4:112431938 [GRCh38]
Chr4:113353094 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2883G>T (p.Leu961Phe) single nucleotide variant not provided [RCV002643030] Chr4:112432430 [GRCh38]
Chr4:113353586 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3317C>T (p.Thr1106Ile) single nucleotide variant not provided [RCV002985612] Chr4:112438612 [GRCh38]
Chr4:113359768 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.574G>T (p.Val192Leu) single nucleotide variant not provided [RCV002593965] Chr4:112425703 [GRCh38]
Chr4:113346859 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1924_1925inv (p.His642Cys) inversion not provided [RCV002593966] Chr4:112431471..112431472 [GRCh38]
Chr4:113352627..113352628 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.475+1_475+5dup duplication not provided [RCV003041157] Chr4:112412024..112412025 [GRCh38]
Chr4:113333180..113333181 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3035-6dup duplication not provided [RCV002790322] Chr4:112435133..112435134 [GRCh38]
Chr4:113356289..113356290 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2914G>A (p.Ala972Thr) single nucleotide variant Inborn genetic diseases [RCV002827458] Chr4:112432461 [GRCh38]
Chr4:113353617 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.878C>A (p.Pro293Gln) single nucleotide variant ALPK1-related disorder [RCV003943561]|not provided [RCV002931896] Chr4:112429231 [GRCh38]
Chr4:113350387 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2724A>T (p.Thr908=) single nucleotide variant not provided [RCV003041832] Chr4:112432271 [GRCh38]
Chr4:113353427 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.241A>G (p.Lys81Glu) single nucleotide variant not provided [RCV002595033] Chr4:112382517 [GRCh38]
Chr4:113303673 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.418G>A (p.Ala140Thr) single nucleotide variant not provided [RCV002701398] Chr4:112411968 [GRCh38]
Chr4:113333124 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.1136G>A (p.Ser379Asn) single nucleotide variant Inborn genetic diseases [RCV002641226]|not provided [RCV003561064] Chr4:112430683 [GRCh38]
Chr4:113351839 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1831C>A (p.Pro611Thr) single nucleotide variant Inborn genetic diseases [RCV002766131]|not provided [RCV002766132] Chr4:112431378 [GRCh38]
Chr4:113352534 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3188+10A>G single nucleotide variant not provided [RCV002985598] Chr4:112435311 [GRCh38]
Chr4:113356467 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.907C>T (p.Arg303Cys) single nucleotide variant not provided [RCV002596746] Chr4:112430454 [GRCh38]
Chr4:113351610 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3394C>A (p.Pro1132Thr) single nucleotide variant not provided [RCV002957453] Chr4:112439728 [GRCh38]
Chr4:113360884 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2885C>T (p.Pro962Leu) single nucleotide variant not provided [RCV002928584] Chr4:112432432 [GRCh38]
Chr4:113353588 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.914C>T (p.Thr305Met) single nucleotide variant not provided [RCV003084405] Chr4:112430461 [GRCh38]
Chr4:113351617 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.102C>T (p.Ser34=) single nucleotide variant not provided [RCV002918925] Chr4:112377879 [GRCh38]
Chr4:113299035 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3002T>G (p.Val1001Gly) single nucleotide variant not provided [RCV002741961] Chr4:112432549 [GRCh38]
Chr4:113353705 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2858C>T (p.Ser953Phe) single nucleotide variant Inborn genetic diseases [RCV004070658]|not provided [RCV002623880] Chr4:112432405 [GRCh38]
Chr4:113353561 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1101G>C (p.Arg367Ser) single nucleotide variant not provided [RCV002966925] Chr4:112430648 [GRCh38]
Chr4:113351804 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.74C>T (p.Ala25Val) single nucleotide variant not provided [RCV002628004] Chr4:112377851 [GRCh38]
Chr4:113299007 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2382C>T (p.Ser794=) single nucleotide variant not provided [RCV002721154] Chr4:112431929 [GRCh38]
Chr4:113353085 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1093C>T (p.His365Tyr) single nucleotide variant not provided [RCV002716187] Chr4:112430640 [GRCh38]
Chr4:113351796 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.756C>T (p.Asn252=) single nucleotide variant not provided [RCV003062953] Chr4:112427626 [GRCh38]
Chr4:113348782 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1752C>A (p.Ser584Arg) single nucleotide variant not provided [RCV002967337] Chr4:112431299 [GRCh38]
Chr4:113352455 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1071T>G (p.Ala357=) single nucleotide variant not provided [RCV002675645] Chr4:112430618 [GRCh38]
Chr4:113351774 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3718G>A (p.Glu1240Lys) single nucleotide variant not provided [RCV002581136] Chr4:112441096 [GRCh38]
Chr4:113362252 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3605A>G (p.Gln1202Arg) single nucleotide variant not provided [RCV003049254] Chr4:112440983 [GRCh38]
Chr4:113362139 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2956G>A (p.Gly986Arg) single nucleotide variant not provided [RCV002576849] Chr4:112432503 [GRCh38]
Chr4:113353659 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.256G>A (p.Ala86Thr) single nucleotide variant Inborn genetic diseases [RCV002964712]|not provided [RCV003778010] Chr4:112382532 [GRCh38]
Chr4:113303688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.796-3C>T single nucleotide variant not provided [RCV002721250] Chr4:112429146 [GRCh38]
Chr4:113350302 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2821TCT[1] (p.Ser942del) microsatellite not provided [RCV002856892] Chr4:112432367..112432369 [GRCh38]
Chr4:113353523..113353525 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2159C>T (p.Ala720Val) single nucleotide variant not provided [RCV002581320] Chr4:112431706 [GRCh38]
Chr4:113352862 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.258C>T (p.Ala86=) single nucleotide variant not provided [RCV002597948] Chr4:112382534 [GRCh38]
Chr4:113303690 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2065G>C (p.Gly689Arg) single nucleotide variant Inborn genetic diseases [RCV002896541] Chr4:112431612 [GRCh38]
Chr4:113352768 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2129C>T (p.Ser710Phe) single nucleotide variant not provided [RCV002811443] Chr4:112431676 [GRCh38]
Chr4:113352832 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1928C>T (p.Ser643Leu) single nucleotide variant not provided [RCV002670852] Chr4:112431475 [GRCh38]
Chr4:113352631 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2640G>A (p.Pro880=) single nucleotide variant not provided [RCV002963424] Chr4:112432187 [GRCh38]
Chr4:113353343 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1491A>G (p.Ile497Met) single nucleotide variant Inborn genetic diseases [RCV002988812]|not provided [RCV002988813] Chr4:112431038 [GRCh38]
Chr4:113352194 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.475+10C>T single nucleotide variant not provided [RCV002630705] Chr4:112412035 [GRCh38]
Chr4:113333191 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1542A>C (p.Arg514Ser) single nucleotide variant not provided [RCV002649620] Chr4:112431089 [GRCh38]
Chr4:113352245 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3037G>A (p.Ala1013Thr) single nucleotide variant not provided [RCV002598907] Chr4:112435150 [GRCh38]
Chr4:113356306 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.343G>A (p.Asp115Asn) single nucleotide variant not provided [RCV002597795] Chr4:112411893 [GRCh38]
Chr4:113333049 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1743T>A (p.Ser581Arg) single nucleotide variant not provided [RCV002598479] Chr4:112431290 [GRCh38]
Chr4:113352446 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1306_1307del (p.Ser436fs) microsatellite not provided [RCV003062724] Chr4:112430850..112430851 [GRCh38]
Chr4:113352006..113352007 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3649T>C (p.Phe1217Leu) single nucleotide variant not provided [RCV003046937] Chr4:112441027 [GRCh38]
Chr4:113362183 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.900+17G>A single nucleotide variant not provided [RCV002597752] Chr4:112429270 [GRCh38]
Chr4:113350426 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.870C>T (p.Ala290=) single nucleotide variant not provided [RCV002933902] Chr4:112429223 [GRCh38]
Chr4:113350379 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2025G>A (p.Ser675=) single nucleotide variant not provided [RCV002600168] Chr4:112431572 [GRCh38]
Chr4:113352728 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1201A>G (p.Arg401Gly) single nucleotide variant Inborn genetic diseases [RCV002936387] Chr4:112430748 [GRCh38]
Chr4:113351904 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1127A>G (p.His376Arg) single nucleotide variant not provided [RCV002833430] Chr4:112430674 [GRCh38]
Chr4:113351830 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1978C>T (p.Pro660Ser) single nucleotide variant not provided [RCV003061268] Chr4:112431525 [GRCh38]
Chr4:113352681 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.630G>A (p.Trp210Ter) single nucleotide variant not provided [RCV003089449] Chr4:112426474 [GRCh38]
Chr4:113347630 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1803C>T (p.His601=) single nucleotide variant not provided [RCV002600847] Chr4:112431350 [GRCh38]
Chr4:113352506 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2523G>A (p.Glu841=) single nucleotide variant not provided [RCV002938723] Chr4:112432070 [GRCh38]
Chr4:113353226 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1086C>T (p.Thr362=) single nucleotide variant not provided [RCV002579876] Chr4:112430633 [GRCh38]
Chr4:113351789 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2349C>T (p.Ser783=) single nucleotide variant not provided [RCV003048564] Chr4:112431896 [GRCh38]
Chr4:113353052 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2056C>T (p.Pro686Ser) single nucleotide variant not provided [RCV003087263] Chr4:112431603 [GRCh38]
Chr4:113352759 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3034+10A>G single nucleotide variant not provided [RCV002962832] Chr4:112432591 [GRCh38]
Chr4:113353747 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3252A>G (p.Arg1084=) single nucleotide variant not provided [RCV003046665] Chr4:112438547 [GRCh38]
Chr4:113359703 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2918G>T (p.Arg973Leu) single nucleotide variant not provided [RCV002597442] Chr4:112432465 [GRCh38]
Chr4:113353621 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2252C>T (p.Pro751Leu) single nucleotide variant not provided [RCV002966258] Chr4:112431799 [GRCh38]
Chr4:113352955 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg) single nucleotide variant not provided [RCV003090032]|not specified [RCV003331431] Chr4:112432251 [GRCh38]
Chr4:113353407 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.1119G>A (p.Gly373=) single nucleotide variant not provided [RCV002811441] Chr4:112430666 [GRCh38]
Chr4:113351822 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1372A>G (p.Thr458Ala) single nucleotide variant not provided [RCV002811442] Chr4:112430919 [GRCh38]
Chr4:113352075 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2533G>A (p.Asp845Asn) single nucleotide variant not provided [RCV003061036] Chr4:112432080 [GRCh38]
Chr4:113353236 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3540T>C (p.Gly1180=) single nucleotide variant not provided [RCV002629287] Chr4:112440918 [GRCh38]
Chr4:113362074 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.73G>A (p.Ala25Thr) single nucleotide variant not provided [RCV002597921] Chr4:112377850 [GRCh38]
Chr4:113299006 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.733A>G (p.Ile245Val) single nucleotide variant Inborn genetic diseases [RCV004071718]|not provided [RCV003061619] Chr4:112427603 [GRCh38]
Chr4:113348759 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.3211G>A (p.Glu1071Lys) single nucleotide variant not provided [RCV002938902] Chr4:112438506 [GRCh38]
Chr4:113359662 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2325C>T (p.Gly775=) single nucleotide variant not provided [RCV003090334] Chr4:112431872 [GRCh38]
Chr4:113353028 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3006del (p.Phe1002fs) deletion not provided [RCV003048130] Chr4:112432549 [GRCh38]
Chr4:113353705 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3444G>A (p.Val1148=) single nucleotide variant not provided [RCV002715846] Chr4:112439778 [GRCh38]
Chr4:113360934 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2518G>A (p.Ala840Thr) single nucleotide variant not provided [RCV002600108] Chr4:112432065 [GRCh38]
Chr4:113353221 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.971A>T (p.His324Leu) single nucleotide variant not provided [RCV002598410] Chr4:112430518 [GRCh38]
Chr4:113351674 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.68T>G (p.Leu23Trp) single nucleotide variant not provided [RCV002602614] Chr4:112377845 [GRCh38]
Chr4:113299001 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3352-14T>C single nucleotide variant not provided [RCV002806192] Chr4:112439672 [GRCh38]
Chr4:113360828 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2296G>C (p.Gly766Arg) single nucleotide variant not provided [RCV002937348] Chr4:112431843 [GRCh38]
Chr4:113352999 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3200A>G (p.Lys1067Arg) single nucleotide variant Inborn genetic diseases [RCV003167590]|not provided [RCV002650499] Chr4:112438495 [GRCh38]
Chr4:113359651 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1809C>T (p.Asp603=) single nucleotide variant not provided [RCV002938722] Chr4:112431356 [GRCh38]
Chr4:113352512 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3705_3709del (p.Arg1236fs) deletion not provided [RCV002676089] Chr4:112441080..112441084 [GRCh38]
Chr4:113362236..113362240 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.2153G>A (p.Arg718His) single nucleotide variant Inborn genetic diseases [RCV004070678]|not provided [RCV002647257] Chr4:112431700 [GRCh38]
Chr4:113352856 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1787A>T (p.Glu596Val) single nucleotide variant not provided [RCV002716014] Chr4:112431334 [GRCh38]
Chr4:113352490 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2888G>A (p.Gly963Glu) single nucleotide variant not provided [RCV003008383] Chr4:112432435 [GRCh38]
Chr4:113353591 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.457C>G (p.Arg153Gly) single nucleotide variant not provided [RCV003045512] Chr4:112412007 [GRCh38]
Chr4:113333163 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.714G>A (p.Ser238=) single nucleotide variant not provided [RCV002578198] Chr4:112427584 [GRCh38]
Chr4:113348740 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1120A>G (p.Thr374Ala) single nucleotide variant Inborn genetic diseases [RCV002936306]|not provided [RCV003777988] Chr4:112430667 [GRCh38]
Chr4:113351823 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.908G>A (p.Arg303His) single nucleotide variant Inborn genetic diseases [RCV003250777]|not provided [RCV002579406] Chr4:112430455 [GRCh38]
Chr4:113351611 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.622+13A>G single nucleotide variant not provided [RCV002671154] Chr4:112425764 [GRCh38]
Chr4:113346920 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.1614C>G (p.Asn538Lys) single nucleotide variant Inborn genetic diseases [RCV003089811]|not provided [RCV003089810] Chr4:112431161 [GRCh38]
Chr4:113352317 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2731G>C (p.Gly911Arg) single nucleotide variant not provided [RCV002580024] Chr4:112432278 [GRCh38]
Chr4:113353434 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.872A>G (p.Tyr291Cys) single nucleotide variant not provided [RCV002646367] Chr4:112429225 [GRCh38]
Chr4:113350381 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3709C>A (p.Pro1237Thr) single nucleotide variant not provided [RCV002900395] Chr4:112441087 [GRCh38]
Chr4:113362243 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_025144.4(ALPK1):c.3435G>A (p.Thr1145=) single nucleotide variant not provided [RCV002856893] Chr4:112439769 [GRCh38]
Chr4:113360925 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2970T>C (p.Asp990=) single nucleotide variant not provided [RCV003068506] Chr4:112432517 [GRCh38]
Chr4:113353673 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3288C>G (p.Asn1096Lys) single nucleotide variant not provided [RCV002942174] Chr4:112438583 [GRCh38]
Chr4:113359739 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.476-8C>A single nucleotide variant not provided [RCV002633377] Chr4:112423936 [GRCh38]
Chr4:113345092 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1633T>C (p.Phe545Leu) single nucleotide variant not provided [RCV002633378] Chr4:112431180 [GRCh38]
Chr4:113352336 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3098A>G (p.Tyr1033Cys) single nucleotide variant not provided [RCV002653391] Chr4:112435211 [GRCh38]
Chr4:113356367 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3727+17A>G single nucleotide variant not provided [RCV002583171] Chr4:112441122 [GRCh38]
Chr4:113362278 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3549C>T (p.Thr1183=) single nucleotide variant not provided [RCV002725466] Chr4:112440927 [GRCh38]
Chr4:113362083 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.612G>T (p.Leu204=) single nucleotide variant not provided [RCV002725536] Chr4:112425741 [GRCh38]
Chr4:113346897 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1985A>T (p.Gln662Leu) single nucleotide variant not provided [RCV002603038] Chr4:112431532 [GRCh38]
Chr4:113352688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1987_1989del (p.Asn663del) deletion not provided [RCV002603039] Chr4:112431534..112431536 [GRCh38]
Chr4:113352690..113352692 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3691C>T (p.Arg1231Cys) single nucleotide variant not provided [RCV002653384] Chr4:112441069 [GRCh38]
Chr4:113362225 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1835G>T (p.Gly612Val) single nucleotide variant not provided [RCV002584503] Chr4:112431382 [GRCh38]
Chr4:113352538 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.410T>C (p.Leu137Ser) single nucleotide variant not provided [RCV002609197] Chr4:112411960 [GRCh38]
Chr4:113333116 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1533T>C (p.His511=) single nucleotide variant not provided [RCV002635898] Chr4:112431080 [GRCh38]
Chr4:113352236 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2707G>A (p.Glu903Lys) single nucleotide variant Inborn genetic diseases [RCV004634182]|not provided [RCV002588759] Chr4:112432254 [GRCh38]
Chr4:113353410 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.952C>A (p.Pro318Thr) single nucleotide variant not provided [RCV002586642] Chr4:112430499 [GRCh38]
Chr4:113351655 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2090G>A (p.Gly697Asp) single nucleotide variant not provided [RCV002681078] Chr4:112431637 [GRCh38]
Chr4:113352793 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.879G>A (p.Pro293=) single nucleotide variant not provided [RCV002607454] Chr4:112429232 [GRCh38]
Chr4:113350388 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.87G>C (p.Ser29=) single nucleotide variant not provided [RCV002605149] Chr4:112377864 [GRCh38]
Chr4:113299020 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.536-6T>C single nucleotide variant not provided [RCV002633705] Chr4:112425659 [GRCh38]
Chr4:113346815 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.900+13A>T single nucleotide variant not provided [RCV002589831] Chr4:112429266 [GRCh38]
Chr4:113350422 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.749G>A (p.Ser250Asn) single nucleotide variant Inborn genetic diseases [RCV002610326]|not provided [RCV002585295] Chr4:112427619 [GRCh38]
Chr4:113348775 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_025144.4(ALPK1):c.2654C>T (p.Ala885Val) single nucleotide variant not provided [RCV002676730] Chr4:112432201 [GRCh38]
Chr4:113353357 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2101G>A (p.Val701Ile) single nucleotide variant Inborn genetic diseases [RCV002585467]|not provided [RCV002585466] Chr4:112431648 [GRCh38]
Chr4:113352804 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1363dup (p.Ile455fs) duplication not provided [RCV002590318] Chr4:112430904..112430905 [GRCh38]
Chr4:113352060..113352061 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.996T>C (p.Phe332=) single nucleotide variant not provided [RCV002942445] Chr4:112430543 [GRCh38]
Chr4:113351699 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2198G>T (p.Gly733Val) single nucleotide variant Inborn genetic diseases [RCV002724753] Chr4:112431745 [GRCh38]
Chr4:113352901 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1197G>A (p.Gln399=) single nucleotide variant not provided [RCV002607835] Chr4:112430744 [GRCh38]
Chr4:113351900 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.831C>T (p.Ser277=) single nucleotide variant not provided [RCV003068390] Chr4:112429184 [GRCh38]
Chr4:113350340 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3077C>T (p.Thr1026Met) single nucleotide variant not provided [RCV002611892] Chr4:112435190 [GRCh38]
Chr4:113356346 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1677dup (p.Ser560fs) duplication not provided [RCV002589554] Chr4:112431223..112431224 [GRCh38]
Chr4:113352379..113352380 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1044A>C (p.Lys348Asn) single nucleotide variant Inborn genetic diseases [RCV002655180] Chr4:112430591 [GRCh38]
Chr4:113351747 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1034T>C (p.Val345Ala) single nucleotide variant not provided [RCV002587758] Chr4:112430581 [GRCh38]
Chr4:113351737 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1323G>C (p.Leu441Phe) single nucleotide variant not provided [RCV002590111] Chr4:112430870 [GRCh38]
Chr4:113352026 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1323_1324del (p.Leu441_Asp442insTer) deletion not provided [RCV003227210] Chr4:112430870..112430871 [GRCh38]
Chr4:113352026..113352027 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.12:g.110650730_112833790del deletion Axenfeld-Rieger syndrome type 1 [RCV003225703] Chr4:110650730..112833790 [GRCh38]
Chr4:4q25		 likely pathogenic
NM_025144.4(ALPK1):c.885C>A (p.Phe295Leu) single nucleotide variant Inborn genetic diseases [RCV003207870]|not provided [RCV003730456] Chr4:112429238 [GRCh38]
Chr4:113350394 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.449G>C (p.Arg150Pro) single nucleotide variant Inborn genetic diseases [RCV003194548] Chr4:112411999 [GRCh38]
Chr4:113333155 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3069dup (p.Leu1024fs) duplication Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003225908] Chr4:112435180..112435181 [GRCh38]
Chr4:113356336..113356337 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1258C>A (p.Gln420Lys) single nucleotide variant Inborn genetic diseases [RCV003288032] Chr4:112430805 [GRCh38]
Chr4:113351961 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.761A>G (p.Tyr254Cys) single nucleotide variant Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003325431] Chr4:112427631 [GRCh38]
Chr4:113348787 [GRCh37]
Chr4:4q25		 pathogenic
NM_025144.4(ALPK1):c.1579G>A (p.Val527Ile) single nucleotide variant Inborn genetic diseases [RCV003370444] Chr4:112431126 [GRCh38]
Chr4:113352282 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3026G>A (p.Arg1009Gln) single nucleotide variant Inborn genetic diseases [RCV003349892]|not provided [RCV003549071] Chr4:112432573 [GRCh38]
Chr4:113353729 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.1525A>G (p.Lys509Glu) single nucleotide variant Inborn genetic diseases [RCV003352642] Chr4:112431072 [GRCh38]
Chr4:113352228 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2954C>T (p.Ala985Val) single nucleotide variant Inborn genetic diseases [RCV003351679]|not provided [RCV003720866] Chr4:112432501 [GRCh38]
Chr4:113353657 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.1180A>G (p.Thr394Ala) single nucleotide variant not provided [RCV003875268] Chr4:112430727 [GRCh38]
Chr4:113351883 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2259C>A (p.Thr753=) single nucleotide variant not provided [RCV003543171] Chr4:112431806 [GRCh38]
Chr4:113352962 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1865C>T (p.Ser622Phe) single nucleotide variant not provided [RCV003569622] Chr4:112431412 [GRCh38]
Chr4:113352568 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3034+3A>T single nucleotide variant not provided [RCV003570455] Chr4:112432584 [GRCh38]
Chr4:113353740 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2492A>C (p.Asp831Ala) single nucleotide variant Inborn genetic diseases [RCV004369415]|not provided [RCV003571497] Chr4:112432039 [GRCh38]
Chr4:113353195 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3075G>T (p.Trp1025Cys) single nucleotide variant not provided [RCV003543819] Chr4:112435188 [GRCh38]
Chr4:113356344 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2612C>G (p.Ser871Cys) single nucleotide variant not provided [RCV003569154] Chr4:112432159 [GRCh38]
Chr4:113353315 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.648A>G (p.Leu216=) single nucleotide variant not provided [RCV003826501] Chr4:112426492 [GRCh38]
Chr4:113347648 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1810G>T (p.Asp604Tyr) single nucleotide variant ALPK1-related disorder [RCV003399770] Chr4:112431357 [GRCh38]
Chr4:113352513 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1998G>A (p.Gln666=) single nucleotide variant not provided [RCV003435133] Chr4:112431545 [GRCh38]
Chr4:113352701 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.382C>G (p.Leu128Val) single nucleotide variant not provided [RCV003442418] Chr4:112411932 [GRCh38]
Chr4:113333088 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3251G>A (p.Arg1084Gln) single nucleotide variant not provided [RCV003435134] Chr4:112438546 [GRCh38]
Chr4:113359702 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.2833G>C (p.Asp945His) single nucleotide variant not provided [RCV003441245] Chr4:112432380 [GRCh38]
Chr4:113353536 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.256G>T (p.Ala86Ser) single nucleotide variant not provided [RCV003439464] Chr4:112382532 [GRCh38]
Chr4:113303688 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1272C>T (p.Phe424=) single nucleotide variant not provided [RCV003439465] Chr4:112430819 [GRCh38]
Chr4:113351975 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1646T>G (p.Leu549Trp) single nucleotide variant not provided [RCV003695478] Chr4:112431193 [GRCh38]
Chr4:113352349 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.250A>G (p.Ile84Val) single nucleotide variant not provided [RCV003578618] Chr4:112382526 [GRCh38]
Chr4:113303682 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.69G>A (p.Leu23=) single nucleotide variant not provided [RCV003696328] Chr4:112377846 [GRCh38]
Chr4:113299002 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1079G>A (p.Gly360Asp) single nucleotide variant not provided [RCV003579264] Chr4:112430626 [GRCh38]
Chr4:113351782 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.915G>A (p.Thr305=) single nucleotide variant not provided [RCV003740131] Chr4:112430462 [GRCh38]
Chr4:113351618 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1772C>T (p.Ser591Phe) single nucleotide variant not provided [RCV003660568] Chr4:112431319 [GRCh38]
Chr4:113352475 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.821A>G (p.His274Arg) single nucleotide variant not provided [RCV003829907] Chr4:112429174 [GRCh38]
Chr4:113350330 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1690A>G (p.Asn564Asp) single nucleotide variant not provided [RCV003877158] Chr4:112431237 [GRCh38]
Chr4:113352393 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2738A>G (p.Gln913Arg) single nucleotide variant not provided [RCV003831325] Chr4:112432285 [GRCh38]
Chr4:113353441 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.276+15A>G single nucleotide variant not provided [RCV003827905] Chr4:112382567 [GRCh38]
Chr4:113303723 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3323T>C (p.Ile1108Thr) single nucleotide variant Inborn genetic diseases [RCV004634404]|not provided [RCV003876145] Chr4:112438618 [GRCh38]
Chr4:113359774 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2589T>C (p.Val863=) single nucleotide variant not provided [RCV003688071] Chr4:112432136 [GRCh38]
Chr4:113353292 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2687T>C (p.Ile896Thr) single nucleotide variant not provided [RCV003689550] Chr4:112432234 [GRCh38]
Chr4:113353390 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3139A>C (p.Arg1047=) single nucleotide variant not provided [RCV003547589] Chr4:112435252 [GRCh38]
Chr4:113356408 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1222G>A (p.Val408Ile) single nucleotide variant not provided [RCV003829214] Chr4:112430769 [GRCh38]
Chr4:113351925 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3035-17A>G single nucleotide variant not provided [RCV003659805] Chr4:112435131 [GRCh38]
Chr4:113356287 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3638G>C (p.Gly1213Ala) single nucleotide variant not provided [RCV003695487] Chr4:112441016 [GRCh38]
Chr4:113362172 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3034+11T>A single nucleotide variant not provided [RCV003690960] Chr4:112432592 [GRCh38]
Chr4:113353748 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3025C>T (p.Arg1009Ter) single nucleotide variant not provided [RCV003826781] Chr4:112432572 [GRCh38]
Chr4:113353728 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3633G>A (p.Lys1211=) single nucleotide variant not provided [RCV003686928] Chr4:112441011 [GRCh38]
Chr4:113362167 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.785A>C (p.Gln262Pro) single nucleotide variant not provided [RCV003544319] Chr4:112427655 [GRCh38]
Chr4:113348811 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2292G>A (p.Glu764=) single nucleotide variant not provided [RCV003713171] Chr4:112431839 [GRCh38]
Chr4:113352995 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.579G>A (p.Gln193=) single nucleotide variant not provided [RCV003738838] Chr4:112425708 [GRCh38]
Chr4:113346864 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.901-6dup duplication not provided [RCV003694584] Chr4:112430437..112430438 [GRCh38]
Chr4:113351593..113351594 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.3683T>A (p.Ile1228Asn) single nucleotide variant not provided [RCV003660117] Chr4:112441061 [GRCh38]
Chr4:113362217 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.136G>T (p.Glu46Ter) single nucleotide variant not provided [RCV003877300] Chr4:112382412 [GRCh38]
Chr4:113303568 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3035G>A (p.Ser1012Asn) single nucleotide variant not provided [RCV003877445] Chr4:112435148 [GRCh38]
Chr4:113356304 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.130C>A (p.Pro44Thr) single nucleotide variant not provided [RCV003881589] Chr4:112382406 [GRCh38]
Chr4:113303562 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3290del (p.Lys1097fs) deletion not provided [RCV003877989] Chr4:112438584 [GRCh38]
Chr4:113359740 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2781C>T (p.Ser927=) single nucleotide variant not provided [RCV003688579] Chr4:112432328 [GRCh38]
Chr4:113353484 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3188+16A>G single nucleotide variant not provided [RCV003690864] Chr4:112435317 [GRCh38]
Chr4:113356473 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1815G>A (p.Arg605=) single nucleotide variant not provided [RCV003692473] Chr4:112431362 [GRCh38]
Chr4:113352518 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3592C>T (p.His1198Tyr) single nucleotide variant not provided [RCV003825983] Chr4:112440970 [GRCh38]
Chr4:113362126 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.797G>A (p.Ser266Asn) single nucleotide variant not provided [RCV003660328] Chr4:112429150 [GRCh38]
Chr4:113350306 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1585A>G (p.Arg529Gly) single nucleotide variant not provided [RCV003686881] Chr4:112431132 [GRCh38]
Chr4:113352288 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1069G>C (p.Ala357Pro) single nucleotide variant not provided [RCV003830325] Chr4:112430616 [GRCh38]
Chr4:113351772 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1679C>T (p.Ser560Leu) single nucleotide variant not provided [RCV003572485] Chr4:112431226 [GRCh38]
Chr4:113352382 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1397T>C (p.Val466Ala) single nucleotide variant not provided [RCV003662609] Chr4:112430944 [GRCh38]
Chr4:113352100 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3166C>T (p.His1056Tyr) single nucleotide variant not provided [RCV003663223] Chr4:112435279 [GRCh38]
Chr4:113356435 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3034+5G>A single nucleotide variant not provided [RCV003876475] Chr4:112432586 [GRCh38]
Chr4:113353742 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2109T>C (p.Asn703=) single nucleotide variant not provided [RCV003876924] Chr4:112431656 [GRCh38]
Chr4:113352812 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1254T>C (p.His418=) single nucleotide variant not provided [RCV003688252] Chr4:112430801 [GRCh38]
Chr4:113351957 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3034+3A>G single nucleotide variant not provided [RCV003693793] Chr4:112432584 [GRCh38]
Chr4:113353740 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2018C>A (p.Pro673His) single nucleotide variant not provided [RCV003578794] Chr4:112431565 [GRCh38]
Chr4:113352721 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1278T>C (p.Asn426=) single nucleotide variant not provided [RCV003713845] Chr4:112430825 [GRCh38]
Chr4:113351981 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3033T>C (p.His1011=) single nucleotide variant not provided [RCV003713060] Chr4:112432580 [GRCh38]
Chr4:113353736 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2366G>A (p.Gly789Glu) single nucleotide variant not provided [RCV003686871] Chr4:112431913 [GRCh38]
Chr4:113353069 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1059C>T (p.Ser353=) single nucleotide variant not provided [RCV003662896] Chr4:112430606 [GRCh38]
Chr4:113351762 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2152C>A (p.Arg718Ser) single nucleotide variant not provided [RCV003714760] Chr4:112431699 [GRCh38]
Chr4:113352855 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.144G>A (p.Arg48=) single nucleotide variant not provided [RCV003545951] Chr4:112382420 [GRCh38]
Chr4:113303576 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.958T>C (p.Leu320=) single nucleotide variant not provided [RCV003878193] Chr4:112430505 [GRCh38]
Chr4:113351661 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3351+7T>C single nucleotide variant not provided [RCV003877690] Chr4:112438653 [GRCh38]
Chr4:113359809 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3157C>T (p.His1053Tyr) single nucleotide variant not provided [RCV003716173] Chr4:112435270 [GRCh38]
Chr4:113356426 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1374C>T (p.Thr458=) single nucleotide variant not provided [RCV003827682] Chr4:112430921 [GRCh38]
Chr4:113352077 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1125C>A (p.Val375=) single nucleotide variant not provided [RCV003880360] Chr4:112430672 [GRCh38]
Chr4:113351828 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.475+16C>G single nucleotide variant not provided [RCV003544681] Chr4:112412041 [GRCh38]
Chr4:113333197 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3440T>C (p.Val1147Ala) single nucleotide variant not provided [RCV003660600] Chr4:112439774 [GRCh38]
Chr4:113360930 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2148A>G (p.Ser716=) single nucleotide variant not provided [RCV003662933] Chr4:112431695 [GRCh38]
Chr4:113352851 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3574C>G (p.Leu1192Val) single nucleotide variant not provided [RCV003663457] Chr4:112440952 [GRCh38]
Chr4:113362108 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2118C>A (p.Pro706=) single nucleotide variant not provided [RCV003573248] Chr4:112431665 [GRCh38]
Chr4:113352821 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1512T>C (p.Ser504=) single nucleotide variant not provided [RCV003573155] Chr4:112431059 [GRCh38]
Chr4:113352215 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1770T>C (p.Ser590=) single nucleotide variant not provided [RCV003544148] Chr4:112431317 [GRCh38]
Chr4:113352473 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.130C>T (p.Pro44Ser) single nucleotide variant not provided [RCV003545403] Chr4:112382406 [GRCh38]
Chr4:113303562 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2280G>A (p.Arg760=) single nucleotide variant not provided [RCV003665682] Chr4:112431827 [GRCh38]
Chr4:113352983 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3189-1G>A single nucleotide variant not provided [RCV003697875] Chr4:112438483 [GRCh38]
Chr4:113359639 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2581A>G (p.Met861Val) single nucleotide variant not provided [RCV003658953] Chr4:112432128 [GRCh38]
Chr4:113353284 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.475+5G>A single nucleotide variant not provided [RCV003664382] Chr4:112412030 [GRCh38]
Chr4:113333186 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.860C>T (p.Ala287Val) single nucleotide variant not provided [RCV003548105] Chr4:112429213 [GRCh38]
Chr4:113350369 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.277-13G>C single nucleotide variant not provided [RCV003850583] Chr4:112411814 [GRCh38]
Chr4:113332970 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1624T>C (p.Ser542Pro) single nucleotide variant not provided [RCV003663647] Chr4:112431171 [GRCh38]
Chr4:113352327 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1091T>C (p.Val364Ala) single nucleotide variant not provided [RCV003548221] Chr4:112430638 [GRCh38]
Chr4:113351794 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.633C>T (p.Tyr211=) single nucleotide variant not provided [RCV003550120] Chr4:112426477 [GRCh38]
Chr4:113347633 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2991G>A (p.Glu997=) single nucleotide variant not provided [RCV003548227] Chr4:112432538 [GRCh38]
Chr4:113353694 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3034+1G>A single nucleotide variant not provided [RCV003697325] Chr4:112432582 [GRCh38]
Chr4:113353738 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2038C>G (p.Pro680Ala) single nucleotide variant not provided [RCV003835954] Chr4:112431585 [GRCh38]
Chr4:113352741 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3351+11C>A single nucleotide variant not provided [RCV003851075] Chr4:112438657 [GRCh38]
Chr4:113359813 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.223G>A (p.Glu75Lys) single nucleotide variant not provided [RCV003852016] Chr4:112382499 [GRCh38]
Chr4:113303655 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1768A>G (p.Ser590Gly) single nucleotide variant not provided [RCV003850104] Chr4:112431315 [GRCh38]
Chr4:113352471 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2103C>T (p.Val701=) single nucleotide variant not provided [RCV003580284] Chr4:112431650 [GRCh38]
Chr4:113352806 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.276+3A>G single nucleotide variant not provided [RCV003548923] Chr4:112382555 [GRCh38]
Chr4:113303711 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3034+7A>G single nucleotide variant not provided [RCV003717553] Chr4:112432588 [GRCh38]
Chr4:113353744 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1463T>C (p.Val488Ala) single nucleotide variant not provided [RCV003718094] Chr4:112431010 [GRCh38]
Chr4:113352166 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2240T>C (p.Ile747Thr) single nucleotide variant not provided [RCV003726408] Chr4:112431787 [GRCh38]
Chr4:113352943 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.686A>G (p.Gln229Arg) single nucleotide variant not provided [RCV003580276] Chr4:112426530 [GRCh38]
Chr4:113347686 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.74C>G (p.Ala25Gly) single nucleotide variant not provided [RCV003851604] Chr4:112377851 [GRCh38]
Chr4:113299007 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3189-15T>G single nucleotide variant not provided [RCV003811456] Chr4:112438469 [GRCh38]
Chr4:113359625 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3385A>G (p.Ser1129Gly) single nucleotide variant Inborn genetic diseases [RCV004366898]|not provided [RCV003837440] Chr4:112439719 [GRCh38]
Chr4:113360875 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3728-10C>G single nucleotide variant not provided [RCV003700883] Chr4:112441193 [GRCh38]
Chr4:113362349 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.315G>A (p.Ala105=) single nucleotide variant not provided [RCV003726892] Chr4:112411865 [GRCh38]
Chr4:113333021 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1815G>C (p.Arg605Ser) single nucleotide variant not provided [RCV003699969] Chr4:112431362 [GRCh38]
Chr4:113352518 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3568A>G (p.Ile1190Val) single nucleotide variant not provided [RCV003666879] Chr4:112440946 [GRCh38]
Chr4:113362102 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.305G>A (p.Arg102Gln) single nucleotide variant not provided [RCV003836098] Chr4:112411855 [GRCh38]
Chr4:113333011 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3386G>A (p.Ser1129Asn) single nucleotide variant not provided [RCV003855558] Chr4:112439720 [GRCh38]
Chr4:113360876 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1568T>C (p.Met523Thr) single nucleotide variant Inborn genetic diseases [RCV004369343]|not provided [RCV003558059] Chr4:112431115 [GRCh38]
Chr4:113352271 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_025144.4(ALPK1):c.277-15A>G single nucleotide variant not provided [RCV003814090] Chr4:112411812 [GRCh38]
Chr4:113332968 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2976G>A (p.Leu992=) single nucleotide variant not provided [RCV003813940] Chr4:112432523 [GRCh38]
Chr4:113353679 [GRCh37]
Chr4:4q25		 benign
NM_025144.4(ALPK1):c.1389T>C (p.His463=) single nucleotide variant not provided [RCV003669523] Chr4:112430936 [GRCh38]
Chr4:113352092 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2174A>G (p.Asp725Gly) single nucleotide variant not provided [RCV003835461] Chr4:112431721 [GRCh38]
Chr4:113352877 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.363C>G (p.Leu121=) single nucleotide variant not provided [RCV003669557] Chr4:112411913 [GRCh38]
Chr4:113333069 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.475+10dup duplication not provided [RCV003667022] Chr4:112412032..112412033 [GRCh38]
Chr4:113333188..113333189 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1037C>T (p.Thr346Ile) single nucleotide variant not provided [RCV003667111] Chr4:112430584 [GRCh38]
Chr4:113351740 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1704del (p.Val569fs) deletion not provided [RCV003725498] Chr4:112431251 [GRCh38]
Chr4:113352407 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.435G>A (p.Pro145=) single nucleotide variant not provided [RCV003839095] Chr4:112411985 [GRCh38]
Chr4:113333141 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.900+10T>C single nucleotide variant not provided [RCV003672118] Chr4:112429263 [GRCh38]
Chr4:113350419 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3474C>G (p.Gly1158=) single nucleotide variant not provided [RCV003716810] Chr4:112439808 [GRCh38]
Chr4:113360964 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.138G>C (p.Glu46Asp) single nucleotide variant not provided [RCV003702050] Chr4:112382414 [GRCh38]
Chr4:113303570 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1648G>A (p.Asp550Asn) single nucleotide variant not provided [RCV003724780] Chr4:112431195 [GRCh38]
Chr4:113352351 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3519T>A (p.Asp1173Glu) single nucleotide variant not provided [RCV003559286] Chr4:112439853 [GRCh38]
Chr4:113361009 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2754A>G (p.Leu918=) single nucleotide variant not provided [RCV003855258] Chr4:112432301 [GRCh38]
Chr4:113353457 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1129G>T (p.Ala377Ser) single nucleotide variant not provided [RCV003666048] Chr4:112430676 [GRCh38]
Chr4:113351832 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2153G>C (p.Arg718Pro) single nucleotide variant not provided [RCV003701021] Chr4:112431700 [GRCh38]
Chr4:113352856 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.872A>T (p.Tyr291Phe) single nucleotide variant not provided [RCV003664312] Chr4:112429225 [GRCh38]
Chr4:113350381 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3528C>T (p.Val1176=) single nucleotide variant not provided [RCV003838569] Chr4:112439862 [GRCh38]
Chr4:113361018 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3415G>T (p.Val1139Leu) single nucleotide variant not provided [RCV003559346] Chr4:112439749 [GRCh38]
Chr4:113360905 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2111T>C (p.Met704Thr) single nucleotide variant not provided [RCV003668260] Chr4:112431658 [GRCh38]
Chr4:113352814 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3539-13A>G single nucleotide variant not provided [RCV003667202] Chr4:112440904 [GRCh38]
Chr4:113362060 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.304C>G (p.Arg102Gly) single nucleotide variant not provided [RCV003717759] Chr4:112411854 [GRCh38]
Chr4:113333010 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.898G>A (p.Val300Met) single nucleotide variant not provided [RCV003832222] Chr4:112429251 [GRCh38]
Chr4:113350407 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2968G>A (p.Asp990Asn) single nucleotide variant not provided [RCV003836881] Chr4:112432515 [GRCh38]
Chr4:113353671 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.307G>T (p.Asp103Tyr) single nucleotide variant not provided [RCV003852466] Chr4:112411857 [GRCh38]
Chr4:113333013 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1564C>T (p.Leu522=) single nucleotide variant not provided [RCV003740477] Chr4:112431111 [GRCh38]
Chr4:113352267 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1101G>A (p.Arg367=) single nucleotide variant not provided [RCV003667457] Chr4:112430648 [GRCh38]
Chr4:113351804 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.536-18T>G single nucleotide variant not provided [RCV003580187] Chr4:112425647 [GRCh38]
Chr4:113346803 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3352-12G>A single nucleotide variant not provided [RCV003673078] Chr4:112439674 [GRCh38]
Chr4:113360830 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.431C>A (p.Ala144Asp) single nucleotide variant not provided [RCV003667559] Chr4:112411981 [GRCh38]
Chr4:113333137 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1186T>C (p.Ser396Pro) single nucleotide variant not provided [RCV003724430] Chr4:112430733 [GRCh38]
Chr4:113351889 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3232C>G (p.His1078Asp) single nucleotide variant not provided [RCV003700642] Chr4:112438527 [GRCh38]
Chr4:113359683 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.463T>C (p.Ser155Pro) single nucleotide variant not provided [RCV003667458] Chr4:112412013 [GRCh38]
Chr4:113333169 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.689C>T (p.Pro230Leu) single nucleotide variant not provided [RCV003816499] Chr4:112426533 [GRCh38]
Chr4:113347689 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1334T>C (p.Ile445Thr) single nucleotide variant not provided [RCV003842656] Chr4:112430881 [GRCh38]
Chr4:113352037 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3189-3T>A single nucleotide variant not provided [RCV003860547] Chr4:112438481 [GRCh38]
Chr4:113359637 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3031C>T (p.His1011Tyr) single nucleotide variant not provided [RCV003734297] Chr4:112432578 [GRCh38]
Chr4:113353734 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.476-8C>T single nucleotide variant not provided [RCV003728186] Chr4:112423936 [GRCh38]
Chr4:113345092 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2032A>G (p.Asn678Asp) single nucleotide variant not provided [RCV003862524] Chr4:112431579 [GRCh38]
Chr4:113352735 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.581C>T (p.Ser194Leu) single nucleotide variant not provided [RCV003554232] Chr4:112425710 [GRCh38]
Chr4:113346866 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3519TGT[1] (p.Val1176del) microsatellite not provided [RCV003706414] Chr4:112439853..112439855 [GRCh38]
Chr4:113361009..113361011 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.459_466dup (p.Val156fs) duplication not provided [RCV003842212] Chr4:112412005..112412006 [GRCh38]
Chr4:113333161..113333162 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3352-18C>T single nucleotide variant not provided [RCV003820485] Chr4:112439668 [GRCh38]
Chr4:113360824 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1394C>T (p.Ser465Leu) single nucleotide variant not provided [RCV003554314] Chr4:112430941 [GRCh38]
Chr4:113352097 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.122-17A>G single nucleotide variant not provided [RCV003853920] Chr4:112382381 [GRCh38]
Chr4:113303537 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.383del (p.Leu128fs) deletion not provided [RCV003845086] Chr4:112411933 [GRCh38]
Chr4:113333089 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.184G>A (p.Val62Met) single nucleotide variant not provided [RCV003728676] Chr4:112382460 [GRCh38]
Chr4:113303616 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3598G>A (p.Val1200Ile) single nucleotide variant not provided [RCV003823850] Chr4:112440976 [GRCh38]
Chr4:113362132 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.280T>C (p.Ser94Pro) single nucleotide variant not provided [RCV003709256] Chr4:112411830 [GRCh38]
Chr4:113332986 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2716A>C (p.Thr906Pro) single nucleotide variant not provided [RCV003679256] Chr4:112432263 [GRCh38]
Chr4:113353419 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.802C>T (p.Leu268=) single nucleotide variant not provided [RCV003819609] Chr4:112429155 [GRCh38]
Chr4:113350311 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2937C>T (p.Asp979=) single nucleotide variant not provided [RCV003710314] Chr4:112432484 [GRCh38]
Chr4:113353640 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1311C>T (p.Phe437=) single nucleotide variant not provided [RCV003862223] Chr4:112430858 [GRCh38]
Chr4:113352014 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1328A>G (p.Lys443Arg) single nucleotide variant not provided [RCV003729926] Chr4:112430875 [GRCh38]
Chr4:113352031 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.806A>G (p.Lys269Arg) single nucleotide variant not provided [RCV003731747] Chr4:112429159 [GRCh38]
Chr4:113350315 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.700G>A (p.Gly234Ser) single nucleotide variant not provided [RCV003860254] Chr4:112427570 [GRCh38]
Chr4:113348726 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1366C>T (p.Leu456Phe) single nucleotide variant not provided [RCV003677766] Chr4:112430913 [GRCh38]
Chr4:113352069 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3725del (p.Pro1242fs) deletion not provided [RCV003844874] Chr4:112441102 [GRCh38]
Chr4:113362258 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.746T>C (p.Met249Thr) single nucleotide variant not provided [RCV003853716] Chr4:112427616 [GRCh38]
Chr4:113348772 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.751A>T (p.Lys251Ter) single nucleotide variant not provided [RCV003727512] Chr4:112427621 [GRCh38]
Chr4:113348777 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1727del (p.Gly576fs) deletion not provided [RCV003708049] Chr4:112431273 [GRCh38]
Chr4:113352429 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.40T>C (p.Cys14Arg) single nucleotide variant not provided [RCV003709273] Chr4:112377817 [GRCh38]
Chr4:113298973 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.713C>T (p.Ser238Leu) single nucleotide variant not provided [RCV003568334] Chr4:112427583 [GRCh38]
Chr4:113348739 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.233C>A (p.Thr78Lys) single nucleotide variant not provided [RCV003857606] Chr4:112382509 [GRCh38]
Chr4:113303665 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3692G>A (p.Arg1231His) single nucleotide variant not provided [RCV003729056] Chr4:112441070 [GRCh38]
Chr4:113362226 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3636_3637del (p.Gly1213fs) microsatellite not provided [RCV003676881] Chr4:112441010..112441011 [GRCh38]
Chr4:113362166..113362167 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1323G>A (p.Leu441=) single nucleotide variant not provided [RCV003711703] Chr4:112430870 [GRCh38]
Chr4:113352026 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.623-10_623-9insC insertion not provided [RCV003683335] Chr4:112426457..112426458 [GRCh38]
Chr4:113347613..113347614 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.121+16G>A single nucleotide variant not provided [RCV003676871] Chr4:112377914 [GRCh38]
Chr4:113299070 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3342A>G (p.Thr1114=) single nucleotide variant not provided [RCV003734214] Chr4:112438637 [GRCh38]
Chr4:113359793 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1003G>T (p.Gly335Cys) single nucleotide variant not provided [RCV003564076] Chr4:112430550 [GRCh38]
Chr4:113351706 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3365A>G (p.Lys1122Arg) single nucleotide variant not provided [RCV003708835] Chr4:112439699 [GRCh38]
Chr4:113360855 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3637G>A (p.Gly1213Arg) single nucleotide variant not provided [RCV003563316] Chr4:112441015 [GRCh38]
Chr4:113362171 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.121+20C>T single nucleotide variant not provided [RCV003683973] Chr4:112377918 [GRCh38]
Chr4:113299074 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1600G>A (p.Gly534Arg) single nucleotide variant not provided [RCV003555604] Chr4:112431147 [GRCh38]
Chr4:113352303 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.411G>T (p.Leu137Phe) single nucleotide variant not provided [RCV003684094] Chr4:112411961 [GRCh38]
Chr4:113333117 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.333G>T (p.Val111=) single nucleotide variant not provided [RCV003869386] Chr4:112411883 [GRCh38]
Chr4:113333039 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2029C>G (p.His677Asp) single nucleotide variant not provided [RCV003869456] Chr4:112431576 [GRCh38]
Chr4:113352732 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2614C>T (p.His872Tyr) single nucleotide variant not provided [RCV003861248] Chr4:112432161 [GRCh38]
Chr4:113353317 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1030C>T (p.Pro344Ser) single nucleotide variant not provided [RCV003568273] Chr4:112430577 [GRCh38]
Chr4:113351733 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.786A>G (p.Gln262=) single nucleotide variant ALPK1-related disorder [RCV003939653] Chr4:112427656 [GRCh38]
Chr4:113348812 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2574C>T (p.Leu858=) single nucleotide variant not provided [RCV003866854] Chr4:112432121 [GRCh38]
Chr4:113353277 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3188+18T>G single nucleotide variant not provided [RCV003866899] Chr4:112435319 [GRCh38]
Chr4:113356475 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2413del (p.Val805fs) deletion not provided [RCV003819580] Chr4:112431958 [GRCh38]
Chr4:113353114 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1210C>T (p.Leu404=) single nucleotide variant not provided [RCV003821099] Chr4:112430757 [GRCh38]
Chr4:113351913 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3261C>T (p.Thr1087=) single nucleotide variant not provided [RCV003822750] Chr4:112438556 [GRCh38]
Chr4:113359712 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1122G>C (p.Thr374=) single nucleotide variant not provided [RCV003557303] Chr4:112430669 [GRCh38]
Chr4:113351825 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1121C>T (p.Thr374Met) single nucleotide variant not provided [RCV003823039] Chr4:112430668 [GRCh38]
Chr4:113351824 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_025144.4(ALPK1):c.700-19_700-17del microsatellite not provided [RCV003845963] Chr4:112427548..112427550 [GRCh38]
Chr4:113348704..113348706 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.364G>C (p.Asp122His) single nucleotide variant not provided [RCV003820232] Chr4:112411914 [GRCh38]
Chr4:113333070 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.700-16T>C single nucleotide variant not provided [RCV003685382] Chr4:112427554 [GRCh38]
Chr4:113348710 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2467C>G (p.Pro823Ala) single nucleotide variant not provided [RCV003685419] Chr4:112432014 [GRCh38]
Chr4:113353170 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.398G>A (p.Gly133Asp) single nucleotide variant not provided [RCV003720140] Chr4:112411948 [GRCh38]
Chr4:113333104 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1273T>C (p.Ser425Pro) single nucleotide variant not provided [RCV003720151] Chr4:112430820 [GRCh38]
Chr4:113351976 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.648A>T (p.Leu216Phe) single nucleotide variant not provided [RCV003704546] Chr4:112426492 [GRCh38]
Chr4:113347648 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1760C>A (p.Ser587Ter) single nucleotide variant not provided [RCV003848547] Chr4:112431307 [GRCh38]
Chr4:113352463 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3330C>T (p.Tyr1110=) single nucleotide variant not provided [RCV003718980] Chr4:112438625 [GRCh38]
Chr4:113359781 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.234A>C (p.Thr78=) single nucleotide variant not provided [RCV003865328] Chr4:112382510 [GRCh38]
Chr4:113303666 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3352-3C>T single nucleotide variant not provided [RCV003722661] Chr4:112439683 [GRCh38]
Chr4:113360839 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.876G>A (p.Thr292=) single nucleotide variant not provided [RCV003720336] Chr4:112429229 [GRCh38]
Chr4:113350385 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3188+18T>C single nucleotide variant not provided [RCV003847494] Chr4:112435319 [GRCh38]
Chr4:113356475 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2690T>C (p.Leu897Pro) single nucleotide variant not provided [RCV003720568] Chr4:112432237 [GRCh38]
Chr4:113353393 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2207C>T (p.Pro736Leu) single nucleotide variant not provided [RCV003706922] Chr4:112431754 [GRCh38]
Chr4:113352910 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3464C>T (p.Thr1155Ile) single nucleotide variant not provided [RCV003734110] Chr4:112439798 [GRCh38]
Chr4:113360954 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1856C>T (p.Thr619Ile) single nucleotide variant not provided [RCV003685522] Chr4:112431403 [GRCh38]
Chr4:113352559 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1444A>G (p.Lys482Glu) single nucleotide variant not provided [RCV003721938] Chr4:112430991 [GRCh38]
Chr4:113352147 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.99G>T (p.Lys33Asn) single nucleotide variant not provided [RCV003683660] Chr4:112377876 [GRCh38]
Chr4:113299032 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.411G>A (p.Leu137=) single nucleotide variant not provided [RCV003564235] Chr4:112411961 [GRCh38]
Chr4:113333117 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.929A>G (p.Tyr310Cys) single nucleotide variant Inborn genetic diseases [RCV004634394]|not provided [RCV003865435] Chr4:112430476 [GRCh38]
Chr4:113351632 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3189-4_3189-3insCACAACAAAGAAGGTATGTTGGGA microsatellite not provided [RCV003860546] Chr4:112438479..112438480 [GRCh38]
Chr4:113359635..113359636 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.546G>A (p.Leu182=) single nucleotide variant not provided [RCV003710037] Chr4:112425675 [GRCh38]
Chr4:113346831 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2336A>G (p.Lys779Arg) single nucleotide variant not provided [RCV003858094] Chr4:112431883 [GRCh38]
Chr4:113353039 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2175T>C (p.Asp725=) single nucleotide variant not provided [RCV003680804] Chr4:112431722 [GRCh38]
Chr4:113352878 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1159G>C (p.Gly387Arg) single nucleotide variant not provided [RCV003676793] Chr4:112430706 [GRCh38]
Chr4:113351862 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1235T>C (p.Ile412Thr) single nucleotide variant not provided [RCV003563499] Chr4:112430782 [GRCh38]
Chr4:113351938 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1307G>C (p.Ser436Thr) single nucleotide variant not provided [RCV003674680] Chr4:112430854 [GRCh38]
Chr4:113352010 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2286G>T (p.Gly762=) single nucleotide variant not provided [RCV003675637] Chr4:112431833 [GRCh38]
Chr4:113352989 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.535+13A>G single nucleotide variant not provided [RCV003840695] Chr4:112424016 [GRCh38]
Chr4:113345172 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2770T>C (p.Ser924Pro) single nucleotide variant not provided [RCV003727093] Chr4:112432317 [GRCh38]
Chr4:113353473 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2513C>G (p.Pro838Arg) single nucleotide variant not provided [RCV003857213] Chr4:112432060 [GRCh38]
Chr4:113353216 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1456A>G (p.Thr486Ala) single nucleotide variant not provided [RCV003843366] Chr4:112431003 [GRCh38]
Chr4:113352159 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3125A>G (p.Lys1042Arg) single nucleotide variant not provided [RCV003843385] Chr4:112435238 [GRCh38]
Chr4:113356394 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3539-10T>C single nucleotide variant not provided [RCV003727239] Chr4:112440907 [GRCh38]
Chr4:113362063 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.1368T>C (p.Leu456=) single nucleotide variant not provided [RCV003710847] Chr4:112430915 [GRCh38]
Chr4:113352071 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.2728G>A (p.Glu910Lys) single nucleotide variant not provided [RCV003556443] Chr4:112432275 [GRCh38]
Chr4:113353431 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2247G>A (p.Glu749=) single nucleotide variant not provided [RCV003822402] Chr4:112431794 [GRCh38]
Chr4:113352950 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.304C>T (p.Arg102Trp) single nucleotide variant not provided [RCV003861055] Chr4:112411854 [GRCh38]
Chr4:113333010 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3351+3A>G single nucleotide variant not provided [RCV003553428] Chr4:112438649 [GRCh38]
Chr4:113359805 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.277-14C>T single nucleotide variant not provided [RCV003819874] Chr4:112411813 [GRCh38]
Chr4:113332969 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3363C>T (p.Asp1121=) single nucleotide variant not provided [RCV003844930] Chr4:112439697 [GRCh38]
Chr4:113360853 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3352-16C>T single nucleotide variant not provided [RCV003820246] Chr4:112439670 [GRCh38]
Chr4:113360826 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.3565C>T (p.Leu1189Phe) single nucleotide variant not provided [RCV003676577] Chr4:112440943 [GRCh38]
Chr4:113362099 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.381_382delinsAA (p.Leu128Met) indel not provided [RCV003848318] Chr4:112411931..112411932 [GRCh38]
Chr4:113333087..113333088 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.146_149dup (p.Ile51fs) duplication not provided [RCV003563967] Chr4:112382421..112382422 [GRCh38]
Chr4:113303577..113303578 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1124T>C (p.Val375Ala) single nucleotide variant not provided [RCV003566641] Chr4:112430671 [GRCh38]
Chr4:113351827 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2183G>A (p.Arg728Lys) single nucleotide variant not provided [RCV003554129] Chr4:112431730 [GRCh38]
Chr4:113352886 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1845T>A (p.His615Gln) single nucleotide variant not provided [RCV003718612] Chr4:112431392 [GRCh38]
Chr4:113352548 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1608G>T (p.Arg536Ser) single nucleotide variant not provided [RCV003681810] Chr4:112431155 [GRCh38]
Chr4:113352311 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2653del (p.Ala885fs) deletion Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003989260] Chr4:112432198 [GRCh38]
Chr4:113353354 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.623-5_623-4dup duplication ALPK1-related disorder [RCV003919749] Chr4:112426453..112426454 [GRCh38]
Chr4:113347609..113347610 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_025144.4(ALPK1):c.2953G>T (p.Ala985Ser) single nucleotide variant Inborn genetic diseases [RCV004406309] Chr4:112432500 [GRCh38]
Chr4:113353656 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3142A>C (p.Asn1048His) single nucleotide variant Inborn genetic diseases [RCV004406324] Chr4:112435255 [GRCh38]
Chr4:113356411 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3172G>C (p.Glu1058Gln) single nucleotide variant Inborn genetic diseases [RCV004406325] Chr4:112435285 [GRCh38]
Chr4:113356441 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.328A>C (p.Ile110Leu) single nucleotide variant Inborn genetic diseases [RCV004406329] Chr4:112411878 [GRCh38]
Chr4:113333034 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.1535G>A (p.Cys512Tyr) single nucleotide variant Inborn genetic diseases [RCV004406231] Chr4:112431082 [GRCh38]
Chr4:113352238 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2575G>A (p.Asp859Asn) single nucleotide variant Inborn genetic diseases [RCV004406292] Chr4:112432122 [GRCh38]
Chr4:113353278 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.2680G>A (p.Gly894Ser) single nucleotide variant Inborn genetic diseases [RCV004406297] Chr4:112432227 [GRCh38]
Chr4:113353383 [GRCh37]
Chr4:4q25		 likely benign
NM_025144.4(ALPK1):c.278C>T (p.Ala93Val) single nucleotide variant Inborn genetic diseases [RCV004406299] Chr4:112411828 [GRCh38]
Chr4:113332984 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3434C>T (p.Thr1145Met) single nucleotide variant Inborn genetic diseases [RCV004406336] Chr4:112439768 [GRCh38]
Chr4:113360924 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3659A>G (p.Asn1220Ser) single nucleotide variant Inborn genetic diseases [RCV004406346] Chr4:112441037 [GRCh38]
Chr4:113362193 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.593A>G (p.Gln198Arg) single nucleotide variant Inborn genetic diseases [RCV004406352] Chr4:112425722 [GRCh38]
Chr4:113346878 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.992C>A (p.Ala331Asp) single nucleotide variant Inborn genetic diseases [RCV004406358] Chr4:112430539 [GRCh38]
Chr4:113351695 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.11:g.(?_113298934)_(114302627_?)dup duplication not provided [RCV004580818] Chr4:113298934..114302627 [GRCh37]
Chr4:4q25-26		 uncertain significance
NC_000004.11:g.(?_113332963)_(113362366_?)dup duplication not provided [RCV004580819] Chr4:113332963..113362366 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.700G>C (p.Gly234Arg) single nucleotide variant Inborn genetic diseases [RCV004631245] Chr4:112427570 [GRCh38]
Chr4:113348726 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3228G>C (p.Trp1076Cys) single nucleotide variant Inborn genetic diseases [RCV004621674] Chr4:112438523 [GRCh38]
Chr4:113359679 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3613T>C (p.Phe1205Leu) single nucleotide variant Inborn genetic diseases [RCV004631243] Chr4:112440991 [GRCh38]
Chr4:113362147 [GRCh37]
Chr4:4q25		 uncertain significance
NM_025144.4(ALPK1):c.3606G>C (p.Gln1202His) single nucleotide variant Inborn genetic diseases [RCV004631249] Chr4:112440984 [GRCh38]
Chr4:113362140 [GRCh37]
Chr4:4q25		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4354
Count of miRNA genes:1339
Interacting mature miRNAs:1768
Transcripts:ENST00000177648, ENST00000426472, ENST00000458497, ENST00000502366, ENST00000504176, ENST00000504488, ENST00000504745, ENST00000505127, ENST00000505176, ENST00000505912, ENST00000508589, ENST00000509209, ENST00000509688, ENST00000509722, ENST00000512847, ENST00000514594, ENST00000515106, ENST00000515330
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407337543GWAS986519_Hinsomnia QTL GWAS986519 (human)2e-08insomnia4112329113112329114Human
407192964GWAS841940_Hbody mass index QTL GWAS841940 (human)6e-11body mass indexbody mass index (BMI) (CMO:0000105)4112402274112402275Human
407116742GWAS765718_Hbody mass index QTL GWAS765718 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)4112335581112335582Human
406987008GWAS635984_Hbody height QTL GWAS635984 (human)1e-08body height (VT:0001253)body height (CMO:0000106)4112402274112402275Human
407206989GWAS855965_Hgut microbiome measurement QTL GWAS855965 (human)0.0000003gut microbiome measurement4112357355112357356Human
406929416GWAS578392_Halcohol consumption measurement QTL GWAS578392 (human)4e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)4112392830112392831Human
407206478GWAS855454_Hmagnesium measurement QTL GWAS855454 (human)0.000004magnesium measurementserum magnesium level (CMO:0000541)4112431743112431744Human
406960143GWAS609119_Hbody mass index QTL GWAS609119 (human)7e-10body mass indexbody mass index (BMI) (CMO:0000105)4112392830112392831Human
407300759GWAS949735_Hbody mass index QTL GWAS949735 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)4112402274112402275Human
406892822GWAS541798_Hbody mass index QTL GWAS541798 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)4112390634112390635Human
407048020GWAS696996_Hobesity QTL GWAS696996 (human)0.000001obesity4112390634112390635Human
407082333GWAS731309_Hbody mass index QTL GWAS731309 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)4112392830112392831Human
407289382GWAS938358_Hbody height QTL GWAS938358 (human)3e-15body height (VT:0001253)body height (CMO:0000106)4112381201112381202Human
1643256BW127_HBody Weight QTL 127 (human)1.310.007Body weightbody mass index4106319694132319694Human
407295591GWAS944567_Hbody mass index QTL GWAS944567 (human)9e-10body mass indexbody mass index (BMI) (CMO:0000105)4112402274112402275Human
407289383GWAS938359_Hbody height QTL GWAS938359 (human)3e-14body height (VT:0001253)body height (CMO:0000106)4112431472112431473Human
406996967GWAS645943_Halcohol consumption measurement QTL GWAS645943 (human)9e-13alcohol consumption measurementethanol drink intake rate (CMO:0001407)4112386757112386758Human
407116387GWAS765363_Hprotein measurement QTL GWAS765363 (human)2e-08protein measurement4112377272112377273Human
407095850GWAS744826_Hbody mass index QTL GWAS744826 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)4112392830112392831Human
407017901GWAS666877_Hatrial fibrillation QTL GWAS666877 (human)9e-09atrial fibrillation4112408189112408190Human
407115636GWAS764612_Hprotein measurement QTL GWAS764612 (human)2e-08protein measurement4112377503112377504Human
407028211GWAS677187_Hleukopenia QTL GWAS677187 (human)0.000003leukopenia4112406922112406923Human
407316403GWAS965379_Hdiet measurement QTL GWAS965379 (human)3e-08diet measurementfood intake measurement (CMO:0000772)4112402274112402275Human
407037879GWAS686855_Hbody mass index QTL GWAS686855 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)4112339309112339310Human
407263283GWAS912259_Hbrain measurement QTL GWAS912259 (human)9e-09brain measurementbrain measurement (CMO:0000911)4112432129112432130Human
406998911GWAS647887_Hbody mass index QTL GWAS647887 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)4112335581112335582Human

Markers in Region
SHGC-23848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,245,502 - 113,245,620UniSTSGRCh37
Build 364113,464,951 - 113,465,069RGDNCBI36
Celera4110,539,579 - 110,539,697RGD
Cytogenetic Map4q25UniSTS
HuRef4108,977,045 - 108,977,163UniSTS
TNG Radiation Hybrid Map470673.0UniSTS
SHGC-23924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,293,101 - 113,293,253UniSTSGRCh37
Build 364113,512,550 - 113,512,702RGDNCBI36
Celera4110,587,178 - 110,587,330RGD
Cytogenetic Map4q25UniSTS
HuRef4109,024,643 - 109,024,795UniSTS
RH93680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,362,367 - 113,362,520UniSTSGRCh37
Build 364113,581,816 - 113,581,969RGDNCBI36
Celera4110,656,449 - 110,656,602RGD
Cytogenetic Map4q25UniSTS
HuRef4109,094,021 - 109,094,174UniSTS
GeneMap99-GB4 RH Map4528.12UniSTS
RH98332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,264,644 - 113,264,774UniSTSGRCh37
Build 364113,484,093 - 113,484,223RGDNCBI36
Celera4110,558,718 - 110,558,848RGD
Cytogenetic Map4q25UniSTS
HuRef4108,996,184 - 108,996,314UniSTS
GeneMap99-GB4 RH Map4529.82UniSTS
D4S807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,269,671 - 113,269,922UniSTSGRCh37
Build 364113,489,120 - 113,489,371RGDNCBI36
Celera4110,563,745 - 110,563,996RGD
Cytogenetic Map4q25UniSTS
HuRef4109,001,211 - 109,001,462UniSTS
SHGC-83938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,261,771 - 113,262,044UniSTSGRCh37
Build 364113,481,220 - 113,481,493RGDNCBI36
Celera4110,555,845 - 110,556,118RGD
Cytogenetic Map4q25UniSTS
HuRef4108,993,311 - 108,993,584UniSTS
TNG Radiation Hybrid Map470650.0UniSTS
G34085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,293,100 - 113,293,247UniSTSGRCh37
Build 364113,512,549 - 113,512,696RGDNCBI36
Celera4110,587,177 - 110,587,324RGD
Cytogenetic Map4q25UniSTS
HuRef4109,024,642 - 109,024,789UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001102406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB075877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY044164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE155590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB250317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000177648   ⟹   ENSP00000177648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,370 - 112,441,812 (+)Ensembl
Ensembl Acc Id: ENST00000426472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,396 - 112,353,012 (+)Ensembl
Ensembl Acc Id: ENST00000458497   ⟹   ENSP00000398048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,402 - 112,441,659 (+)Ensembl
Ensembl Acc Id: ENST00000502366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,379 - 112,343,584 (+)Ensembl
Ensembl Acc Id: ENST00000504176   ⟹   ENSP00000426044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,343 - 112,442,606 (+)Ensembl
Ensembl Acc Id: ENST00000504488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,385 - 112,316,305 (+)Ensembl
Ensembl Acc Id: ENST00000504745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,382,504 - 112,442,620 (+)Ensembl
Ensembl Acc Id: ENST00000505127   ⟹   ENSP00000425559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,382 - 112,441,664 (+)Ensembl
Ensembl Acc Id: ENST00000505176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,369 - 112,343,276 (+)Ensembl
Ensembl Acc Id: ENST00000505912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,410,915 - 112,415,117 (+)Ensembl
Ensembl Acc Id: ENST00000508589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,425,051 - 112,427,649 (+)Ensembl
Ensembl Acc Id: ENST00000509209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,423,788 - 112,425,963 (+)Ensembl
Ensembl Acc Id: ENST00000509688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,391 - 112,384,846 (+)Ensembl
Ensembl Acc Id: ENST00000509722   ⟹   ENSP00000424492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,380 - 112,441,371 (+)Ensembl
Ensembl Acc Id: ENST00000512847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,426,506 - 112,428,111 (+)Ensembl
Ensembl Acc Id: ENST00000514594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,285,509 - 112,315,851 (+)Ensembl
Ensembl Acc Id: ENST00000515106   ⟹   ENSP00000425273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,401 - 112,412,445 (+)Ensembl
Ensembl Acc Id: ENST00000515330   ⟹   ENSP00000423978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,396 - 112,425,693 (+)Ensembl
Ensembl Acc Id: ENST00000650871   ⟹   ENSP00000498374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4112,297,369 - 112,442,621 (+)Ensembl
RefSeq Acc Id: NM_001102406   ⟹   NP_001095876
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,297,369 - 112,442,621 (+)NCBI
GRCh374113,218,480 - 113,363,774 (+)NCBI
Build 364113,437,948 - 113,583,223 (+)NCBI Archive
Celera4110,512,576 - 110,657,856 (+)RGD
HuRef4108,950,042 - 109,095,428 (+)RGD
CHM1_14113,195,311 - 113,340,525 (+)NCBI
T2T-CHM13v2.04115,605,712 - 115,750,965 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001253884   ⟹   NP_001240813
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,297,369 - 112,442,621 (+)NCBI
GRCh374113,218,480 - 113,363,774 (+)NCBI
HuRef4108,950,042 - 109,095,428 (+)NCBI
CHM1_14113,195,311 - 113,340,525 (+)NCBI
T2T-CHM13v2.04115,605,712 - 115,750,965 (+)NCBI
Sequence:
RefSeq Acc Id: NM_025144   ⟹   NP_079420
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,297,369 - 112,442,621 (+)NCBI
GRCh374113,218,480 - 113,363,774 (+)NCBI
Build 364113,437,948 - 113,583,223 (+)NCBI Archive
Celera4110,512,576 - 110,657,856 (+)RGD
HuRef4108,950,042 - 109,095,428 (+)RGD
CHM1_14113,195,311 - 113,340,525 (+)NCBI
T2T-CHM13v2.04115,605,712 - 115,750,965 (+)NCBI
Sequence:
RefSeq Acc Id: NP_079420   ⟸   NM_025144
- Peptide Label: isoform 1
- UniProtKB: Q6ZNK4 (UniProtKB/Swiss-Prot),   Q6P9F9 (UniProtKB/Swiss-Prot),   Q68CI9 (UniProtKB/Swiss-Prot),   F5H138 (UniProtKB/Swiss-Prot),   B4E3G1 (UniProtKB/Swiss-Prot),   Q9P201 (UniProtKB/Swiss-Prot),   Q96QP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001095876   ⟸   NM_001102406
- Peptide Label: isoform 1
- UniProtKB: Q6ZNK4 (UniProtKB/Swiss-Prot),   Q6P9F9 (UniProtKB/Swiss-Prot),   Q68CI9 (UniProtKB/Swiss-Prot),   F5H138 (UniProtKB/Swiss-Prot),   B4E3G1 (UniProtKB/Swiss-Prot),   Q9P201 (UniProtKB/Swiss-Prot),   Q96QP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001240813   ⟸   NM_001253884
- Peptide Label: isoform 2
- UniProtKB: Q96QP1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000426044   ⟸   ENST00000504176
Ensembl Acc Id: ENSP00000425559   ⟸   ENST00000505127
Ensembl Acc Id: ENSP00000177648   ⟸   ENST00000177648
Ensembl Acc Id: ENSP00000498374   ⟸   ENST00000650871
Ensembl Acc Id: ENSP00000424492   ⟸   ENST00000509722
Ensembl Acc Id: ENSP00000398048   ⟸   ENST00000458497
Ensembl Acc Id: ENSP00000425273   ⟸   ENST00000515106
Ensembl Acc Id: ENSP00000423978   ⟸   ENST00000515330
Protein Domains
Alpha-type protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96QP1-F1-model_v2 AlphaFold Q96QP1 1-1244 view protein structure

Promoters
RGD ID:6868294
Promoter ID:EPDNEW_H7312
Type:initiation region
Name:ALPK1_1
Description:alpha kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7310  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,297,369 - 112,297,429EPDNEW
RGD ID:6802166
Promoter ID:HG_KWN:48931
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000309610,   NM_001102406,   NM_025144,   UC003IAM.2,   UC003IAO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 364113,437,769 - 113,438,269 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20917 AgrOrtholog
COSMIC ALPK1 COSMIC
Ensembl Genes ENSG00000073331 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000177648 ENTREZGENE
  ENST00000177648.13 UniProtKB/Swiss-Prot
  ENST00000458497.6 UniProtKB/Swiss-Prot
  ENST00000504176 ENTREZGENE
  ENST00000504176.6 UniProtKB/Swiss-Prot
  ENST00000505127.5 UniProtKB/TrEMBL
  ENST00000509722.5 UniProtKB/TrEMBL
  ENST00000515330.5 UniProtKB/TrEMBL
  ENST00000650871 ENTREZGENE
  ENST00000650871.1 UniProtKB/Swiss-Prot
Gene3D-CATH MHCK/EF2 kinase UniProtKB/Swiss-Prot
GTEx ENSG00000073331 GTEx
HGNC ID HGNC:20917 ENTREZGENE
Human Proteome Map ALPK1 Human Proteome Map
InterPro ALPK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  MHCK_EF2_kinase UniProtKB/Swiss-Prot
KEGG Report hsa:80216 UniProtKB/Swiss-Prot
NCBI Gene 80216 ENTREZGENE
OMIM 607347 OMIM
PANTHER ALPHA-PROTEIN KINASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46747 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Alpha_kinase UniProtKB/Swiss-Prot
PharmGKB PA134891785 PharmGKB
PROSITE ALPHA_KINASE UniProtKB/Swiss-Prot
SMART Alpha_kinase UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt ALPK1_HUMAN UniProtKB/Swiss-Prot
  B3KUH8_HUMAN UniProtKB/TrEMBL
  B4E0R2_HUMAN UniProtKB/TrEMBL
  B4E3G1 ENTREZGENE
  D6RB29_HUMAN UniProtKB/TrEMBL
  F5H138 ENTREZGENE
  L8E8U4_HUMAN UniProtKB/TrEMBL
  Q68CI9 ENTREZGENE
  Q6P9F9 ENTREZGENE
  Q6ZNK4 ENTREZGENE
  Q96QP1 ENTREZGENE
  Q9P201 ENTREZGENE
UniProt Secondary B4E3G1 UniProtKB/Swiss-Prot
  F5H138 UniProtKB/Swiss-Prot
  Q68CI9 UniProtKB/Swiss-Prot
  Q6P9F9 UniProtKB/Swiss-Prot
  Q6ZNK4 UniProtKB/Swiss-Prot
  Q9P201 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ALPK1  alpha kinase 1    alpha-kinase 1  Symbol and/or name change 5135510 APPROVED