ASRGL1 (asparaginase and isoaspartyl peptidase 1) - Rat Genome Database

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Gene: ASRGL1 (asparaginase and isoaspartyl peptidase 1) Homo sapiens
Analyze
Symbol: ASRGL1
Name: asparaginase and isoaspartyl peptidase 1
RGD ID: 1343525
HGNC Page HGNC:16448
Description: Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in asparagine catabolic process via L-aspartate. Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ALP; ALP1; asparaginase like 1; asparaginase-like 1 protein; asparaginase-like protein 1; beta-aspartyl-peptidase; CRASH; FLJ22316; isoaspartyl dipeptidase; isoaspartyl peptidase/L-asparaginase; L-asparaginase; L-asparagine amidohydrolase; testis secretory sperm-binding protein Li 242mP
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,337,448 - 62,401,431 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,337,448 - 62,393,412 (+)EnsemblGRCh38hg38GRCh38
GRCh371162,104,920 - 62,160,884 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,861,350 - 61,917,463 (+)NCBINCBI36Build 36hg18NCBI36
Build 341161,861,540 - 61,916,616NCBI
Celera1159,434,150 - 59,490,290 (+)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,433,119 - 58,488,977 (+)NCBIHuRef
CHM1_11161,987,987 - 62,043,930 (+)NCBICHM1_1
T2T-CHM13v2.01162,326,729 - 62,390,808 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
acetamide  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP)
bisphenol F  (EXP)
calcitriol  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
inulin  (ISO)
L-methionine  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA,ISS)
cytosol  (TAS)
nucleus  (HDA)
photoreceptor inner segment  (IEA,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11984834   PMID:12477932   PMID:14702039   PMID:15342556   PMID:16344560   PMID:17213182   PMID:18029348   PMID:19414332   PMID:19839645   PMID:21630459   PMID:21873635  
PMID:21900206   PMID:22891768   PMID:23144326   PMID:23383108   PMID:25858696   PMID:26186194   PMID:26780688   PMID:27106100   PMID:28514442   PMID:28671681   PMID:29096882   PMID:29486992  
PMID:29684683   PMID:29767260   PMID:29791485   PMID:31091453   PMID:31980649   PMID:32434038   PMID:33637726   PMID:33961781   PMID:35013556   PMID:35439318   PMID:35831314   PMID:35944360  
PMID:36572570   PMID:36842323  


Genomics

Comparative Map Data
ASRGL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,337,448 - 62,401,431 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,337,448 - 62,393,412 (+)EnsemblGRCh38hg38GRCh38
GRCh371162,104,920 - 62,160,884 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,861,350 - 61,917,463 (+)NCBINCBI36Build 36hg18NCBI36
Build 341161,861,540 - 61,916,616NCBI
Celera1159,434,150 - 59,490,290 (+)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,433,119 - 58,488,977 (+)NCBIHuRef
CHM1_11161,987,987 - 62,043,930 (+)NCBICHM1_1
T2T-CHM13v2.01162,326,729 - 62,390,808 (+)NCBIT2T-CHM13v2.0
Asrgl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39199,089,083 - 9,112,930 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl199,087,232 - 9,113,000 (-)EnsemblGRCm39 Ensembl
GRCm38199,111,719 - 9,135,566 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl199,109,868 - 9,135,636 (-)EnsemblGRCm38mm10GRCm38
MGSCv37199,186,209 - 9,210,056 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36199,178,764 - 9,202,611 (-)NCBIMGSCv36mm8
Celera198,872,234 - 8,896,083 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map196.06NCBI
Asrgl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81215,436,180 - 215,456,188 (-)NCBIGRCr8
mRatBN7.21206,006,103 - 206,027,115 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1206,006,109 - 206,027,108 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1214,424,837 - 214,444,989 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01221,450,459 - 221,470,476 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01214,139,868 - 214,159,873 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01225,309,737 - 225,329,743 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,309,246 - 225,329,770 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,247,185 - 232,267,027 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,788,145 - 211,808,943 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11211,945,611 - 211,967,379 (-)NCBI
Celera1203,517,344 - 203,537,342 (-)NCBICelera
Cytogenetic Map1q43NCBI
ASRGL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2963,569,499 - 63,620,018 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11164,612,245 - 64,662,759 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01157,700,104 - 57,750,371 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11161,056,817 - 61,107,485 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,056,817 - 61,107,485 (+)Ensemblpanpan1.1panPan2
ASRGL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11854,215,920 - 54,238,094 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1854,216,926 - 54,238,059 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1852,821,517 - 52,843,789 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01855,269,510 - 55,291,720 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1855,241,056 - 55,291,719 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11854,366,156 - 54,388,161 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01853,939,643 - 53,961,840 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01854,736,115 - 54,758,461 (-)NCBIUU_Cfam_GSD_1.0
Asrgl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494710,709,837 - 10,733,792 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936581821,771 - 847,704 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936581823,665 - 847,579 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASRGL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,328,269 - 9,353,340 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,328,260 - 9,353,384 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,651,527 - 8,675,547 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ASRGL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,503,137 - 11,529,745 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl111,502,578 - 11,529,598 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038108,849,009 - 108,884,156 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asrgl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249261,010,069 - 1,020,159 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249261,009,865 - 1,018,538 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASRGL1
241 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 copy number gain See cases [RCV000138411] Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3		 pathogenic
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 copy number loss See cases [RCV000448355] Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 copy number gain not provided [RCV000683362] Chr11:58935215..62177656 [GRCh37]
Chr11:11q12.1-12.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q12.3(chr11:62096355-62139467)x3 copy number gain not provided [RCV000737552] Chr11:62096355..62139467 [GRCh37]
Chr11:11q12.3		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q12.3(chr11:62099144-62139467)x3 copy number gain not provided [RCV000750069] Chr11:62099144..62139467 [GRCh37]
Chr11:11q12.3		 benign
GRCh37/hg19 11q12.3(chr11:62157418-62362465)x3 copy number gain not provided [RCV000750070] Chr11:62157418..62362465 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.589G>A (p.Val197Ile) single nucleotide variant Inborn genetic diseases [RCV003243444]|not provided [RCV001055309] Chr11:62389230 [GRCh38]
Chr11:62156702 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.210C>A (p.Asn70Lys) single nucleotide variant Inborn genetic diseases [RCV002553838]|not provided [RCV001057793] Chr11:62356344 [GRCh38]
Chr11:62123816 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.371A>C (p.Gln124Pro) single nucleotide variant not provided [RCV002001563] Chr11:62357024 [GRCh38]
Chr11:62124496 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.191G>A (p.Gly64Asp) single nucleotide variant Inborn genetic diseases [RCV002552568]|not provided [RCV001044853] Chr11:62356325 [GRCh38]
Chr11:62123797 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.385A>G (p.Met129Val) single nucleotide variant not provided [RCV000939714] Chr11:62357038 [GRCh38]
Chr11:62124510 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV001248325] Chr11:62357021 [GRCh38]
Chr11:62124493 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.462A>C (p.Glu154Asp) single nucleotide variant Inborn genetic diseases [RCV002563744]|not provided [RCV001230681] Chr11:62357115 [GRCh38]
Chr11:62124587 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.712A>G (p.Ile238Val) single nucleotide variant not provided [RCV001241918] Chr11:62391623 [GRCh38]
Chr11:62159095 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.886G>A (p.Gly296Arg) single nucleotide variant not provided [RCV001225749] Chr11:62392243 [GRCh38]
Chr11:62159715 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.333+5A>G single nucleotide variant not provided [RCV001238212] Chr11:62356472 [GRCh38]
Chr11:62123944 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.889A>G (p.Ile297Val) single nucleotide variant not provided [RCV001240440] Chr11:62392246 [GRCh38]
Chr11:62159718 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.491+3_491+6del microsatellite not provided [RCV001211405] Chr11:62357143..62357146 [GRCh38]
Chr11:62124615..62124618 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.697C>G (p.Leu233Val) single nucleotide variant not provided [RCV001211626] Chr11:62391608 [GRCh38]
Chr11:62159080 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.634G>A (p.Asp212Asn) single nucleotide variant not provided [RCV001242118] Chr11:62391545 [GRCh38]
Chr11:62159017 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.56G>A (p.Arg19Gln) single nucleotide variant not provided [RCV001244467] Chr11:62338033 [GRCh38]
Chr11:62105505 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.440G>T (p.Arg147Leu) single nucleotide variant not provided [RCV001222984] Chr11:62357093 [GRCh38]
Chr11:62124565 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.255A>C (p.Lys85Asn) single nucleotide variant not provided [RCV001227796] Chr11:62356389 [GRCh38]
Chr11:62123861 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.100G>A (p.Gly34Ser) single nucleotide variant not provided [RCV001227913] Chr11:62338077 [GRCh38]
Chr11:62105549 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.761A>G (p.Tyr254Cys) single nucleotide variant Inborn genetic diseases [RCV002568575]|not provided [RCV001244142] Chr11:62392118 [GRCh38]
Chr11:62159590 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.375T>C (p.Phe125=) single nucleotide variant not provided [RCV000911198] Chr11:62357028 [GRCh38]
Chr11:62124500 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.637A>G (p.Ile213Val) single nucleotide variant not provided [RCV001057952] Chr11:62391548 [GRCh38]
Chr11:62159020 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.568G>A (p.Val190Ile) single nucleotide variant not provided [RCV001063924] Chr11:62389209 [GRCh38]
Chr11:62156681 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.862G>A (p.Ala288Thr) single nucleotide variant not provided [RCV001215039] Chr11:62392219 [GRCh38]
Chr11:62159691 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.333+6T>C single nucleotide variant not provided [RCV001203994] Chr11:62356473 [GRCh38]
Chr11:62123945 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.492A>G (p.Lys164=) single nucleotide variant not provided [RCV001207154] Chr11:62389133 [GRCh38]
Chr11:62156605 [GRCh37]
Chr11:11q12.3		 likely benign|uncertain significance
NM_001083926.2(ASRGL1):c.440G>A (p.Arg147His) single nucleotide variant not provided [RCV001232827] Chr11:62357093 [GRCh38]
Chr11:62124565 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.13G>A (p.Val5Ile) single nucleotide variant Inborn genetic diseases [RCV002551488]|not provided [RCV001041129] Chr11:62337990 [GRCh38]
Chr11:62105462 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.31G>A (p.Gly11Arg) single nucleotide variant not provided [RCV001041281] Chr11:62338008 [GRCh38]
Chr11:62105480 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.3(chr11:62010938-62116409)x1 copy number loss not provided [RCV001260129] Chr11:62010938..62116409 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.3(chr11:61874941-62236378)x3 copy number gain not provided [RCV001260130] Chr11:61874941..62236378 [GRCh37]
Chr11:11q12.3		 uncertain significance
NC_000011.9:g.(?_62105450)_(62156743_?)dup duplication not provided [RCV001338411] Chr11:62105450..62156743 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.295G>A (p.Ala99Thr) single nucleotide variant not provided [RCV001296397] Chr11:62356429 [GRCh38]
Chr11:62123901 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.926A>C (p.Ter309Ser) single nucleotide variant not provided [RCV001325342] Chr11:62392283 [GRCh38]
Chr11:62159755 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.484T>G (p.Cys162Gly) single nucleotide variant Inborn genetic diseases [RCV002546956]|not provided [RCV001342423] Chr11:62357137 [GRCh38]
Chr11:62124609 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.722-3C>G single nucleotide variant not provided [RCV001340214] Chr11:62392076 [GRCh38]
Chr11:62159548 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.290G>T (p.Cys97Phe) single nucleotide variant not provided [RCV001320919] Chr11:62356424 [GRCh38]
Chr11:62123896 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.78C>T (p.Gly26=) single nucleotide variant not provided [RCV001326162] Chr11:62338055 [GRCh38]
Chr11:62105527 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.550A>T (p.Thr184Ser) single nucleotide variant not provided [RCV001340692] Chr11:62389191 [GRCh38]
Chr11:62156663 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.34G>T (p.Ala12Ser) single nucleotide variant Inborn genetic diseases [RCV003284288]|not provided [RCV001373302] Chr11:62338011 [GRCh38]
Chr11:62105483 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.407G>A (p.Gly136Glu) single nucleotide variant Inborn genetic diseases [RCV002550939]|not provided [RCV001374014] Chr11:62357060 [GRCh38]
Chr11:62124532 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.258C>T (p.Asp86=) single nucleotide variant not provided [RCV001422212] Chr11:62356392 [GRCh38]
Chr11:62123864 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.905CTA[1] (p.Thr303del) microsatellite not provided [RCV001369762] Chr11:62392260..62392262 [GRCh38]
Chr11:62159732..62159734 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.156C>G (p.Val52=) single nucleotide variant not provided [RCV001392463] Chr11:62338133 [GRCh38]
Chr11:62105605 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.691G>T (p.Ala231Ser) single nucleotide variant not provided [RCV001361161] Chr11:62391602 [GRCh38]
Chr11:62159074 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.724A>C (p.Lys242Gln) single nucleotide variant Inborn genetic diseases [RCV002545006]|not provided [RCV001307273] Chr11:62392081 [GRCh38]
Chr11:62159553 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.905C>T (p.Thr302Ile) single nucleotide variant not provided [RCV001325399] Chr11:62392262 [GRCh38]
Chr11:62159734 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.875A>G (p.Lys292Arg) single nucleotide variant not provided [RCV001307411] Chr11:62392232 [GRCh38]
Chr11:62159704 [GRCh37]
Chr11:11q12.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001083926.2(ASRGL1):c.194G>A (p.Cys65Tyr) single nucleotide variant not provided [RCV001324375] Chr11:62356328 [GRCh38]
Chr11:62123800 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.728C>T (p.Thr243Met) single nucleotide variant Inborn genetic diseases [RCV002547397]|not provided [RCV001340132] Chr11:62392085 [GRCh38]
Chr11:62159557 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.743C>T (p.Ala248Val) single nucleotide variant not provided [RCV001306063] Chr11:62392100 [GRCh38]
Chr11:62159572 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.694A>G (p.Arg232Gly) single nucleotide variant not provided [RCV001351666] Chr11:62391605 [GRCh38]
Chr11:62159077 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.910A>G (p.Ile304Val) single nucleotide variant not provided [RCV001325382] Chr11:62392267 [GRCh38]
Chr11:62159739 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.280G>T (p.Ala94Ser) single nucleotide variant not provided [RCV001366806] Chr11:62356414 [GRCh38]
Chr11:62123886 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.70C>T (p.His24Tyr) single nucleotide variant not provided [RCV001338588] Chr11:62338047 [GRCh38]
Chr11:62105519 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.806G>A (p.Ser269Asn) single nucleotide variant not provided [RCV001297901] Chr11:62392163 [GRCh38]
Chr11:62159635 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.306T>G (p.Ile102Met) single nucleotide variant not provided [RCV001360790] Chr11:62356440 [GRCh38]
Chr11:62123912 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.163C>G (p.Leu55Val) single nucleotide variant not provided [RCV001365445] Chr11:62338140 [GRCh38]
Chr11:62105612 [GRCh37]
Chr11:11q12.3		 uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
NM_001083926.2(ASRGL1):c.817G>A (p.Asp273Asn) single nucleotide variant not provided [RCV001358906] Chr11:62392174 [GRCh38]
Chr11:62159646 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.798C>T (p.Ile266=) single nucleotide variant ASRGL1-related condition [RCV003921145]|not provided [RCV001519297] Chr11:62392155 [GRCh38]
Chr11:62159627 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.334-9del deletion not provided [RCV001441848] Chr11:62356978 [GRCh38]
Chr11:62124450 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.27C>T (p.Gly9=) single nucleotide variant not provided [RCV001483613] Chr11:62338004 [GRCh38]
Chr11:62105476 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.900C>T (p.Asp300=) single nucleotide variant ASRGL1-related condition [RCV003938739]|not provided [RCV001426052]|not specified [RCV001699543] Chr11:62392257 [GRCh38]
Chr11:62159729 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_001083926.2(ASRGL1):c.24C>T (p.His8=) single nucleotide variant not provided [RCV001517559] Chr11:62338001 [GRCh38]
Chr11:62105473 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.867G>A (p.Lys289=) single nucleotide variant ASRGL1-related condition [RCV003908854]|not provided [RCV001518030]|not specified [RCV001699800] Chr11:62392224 [GRCh38]
Chr11:62159696 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.912C>T (p.Ile304=) single nucleotide variant not provided [RCV001486900] Chr11:62392269 [GRCh38]
Chr11:62159741 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.721+10C>A single nucleotide variant not provided [RCV001483592] Chr11:62391642 [GRCh38]
Chr11:62159114 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.97G>A (p.Val33Met) single nucleotide variant ASRGL1-related condition [RCV003931144]|not provided [RCV001523297] Chr11:62338074 [GRCh38]
Chr11:62105546 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.744G>A (p.Ala248=) single nucleotide variant not provided [RCV001403946] Chr11:62392101 [GRCh38]
Chr11:62159573 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.753G>A (p.Ser251=) single nucleotide variant ASRGL1-related condition [RCV003931108]|not provided [RCV001518443] Chr11:62392110 [GRCh38]
Chr11:62159582 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_001083926.2(ASRGL1):c.504C>T (p.Thr168=) single nucleotide variant not provided [RCV001435676] Chr11:62389145 [GRCh38]
Chr11:62156617 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.163C>T (p.Leu55=) single nucleotide variant not provided [RCV001411945] Chr11:62338140 [GRCh38]
Chr11:62105612 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.585C>T (p.Gly195=) single nucleotide variant not provided [RCV001405311] Chr11:62389226 [GRCh38]
Chr11:62156698 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.918C>T (p.Asp306=) single nucleotide variant not provided [RCV001419097] Chr11:62392275 [GRCh38]
Chr11:62159747 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.96C>T (p.Thr32=) single nucleotide variant not provided [RCV001408002] Chr11:62338073 [GRCh38]
Chr11:62105545 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.259C>T (p.Leu87=) single nucleotide variant not provided [RCV001411086] Chr11:62356393 [GRCh38]
Chr11:62123865 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.915C>T (p.Thr305=) single nucleotide variant not provided [RCV001408538] Chr11:62392272 [GRCh38]
Chr11:62159744 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.645C>T (p.Ala215=) single nucleotide variant not provided [RCV001394021] Chr11:62391556 [GRCh38]
Chr11:62159028 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.495C>T (p.Asn165=) single nucleotide variant ASRGL1-related condition [RCV003980539]|not provided [RCV001515654] Chr11:62389136 [GRCh38]
Chr11:62156608 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.162C>T (p.Ala54=) single nucleotide variant not provided [RCV001520493] Chr11:62338139 [GRCh38]
Chr11:62105611 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.420G>C (p.Val140=) single nucleotide variant not provided [RCV001456721] Chr11:62357073 [GRCh38]
Chr11:62124545 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.141C>G (p.Ala47=) single nucleotide variant not provided [RCV001426849] Chr11:62338118 [GRCh38]
Chr11:62105590 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.491+17del deletion not provided [RCV001473581] Chr11:62357160 [GRCh38]
Chr11:62124632 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.472C>G (p.Gln158Glu) single nucleotide variant not provided [RCV001501784] Chr11:62357125 [GRCh38]
Chr11:62124597 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.191-14_191-12del microsatellite not provided [RCV001523048] Chr11:62356308..62356310 [GRCh38]
Chr11:62123780..62123782 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.399G>A (p.Glu133=) single nucleotide variant ASRGL1-related condition [RCV003956027]|not provided [RCV001468708] Chr11:62357052 [GRCh38]
Chr11:62124524 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.561C>T (p.Gly187=) single nucleotide variant not provided [RCV001487983] Chr11:62389202 [GRCh38]
Chr11:62156674 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.753G>C (p.Ser251=) single nucleotide variant not provided [RCV001477319] Chr11:62392110 [GRCh38]
Chr11:62159582 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.388G>C (p.Gly130Arg) single nucleotide variant not provided [RCV001451604] Chr11:62357041 [GRCh38]
Chr11:62124513 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.627C>T (p.Ala209=) single nucleotide variant not provided [RCV001523429] Chr11:62391538 [GRCh38]
Chr11:62159010 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.603G>A (p.Pro201=) single nucleotide variant not provided [RCV001499036] Chr11:62389244 [GRCh38]
Chr11:62156716 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.723A>G (p.Gly241=) single nucleotide variant not provided [RCV001461585] Chr11:62392080 [GRCh38]
Chr11:62159552 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.903T>C (p.Asp301=) single nucleotide variant not provided [RCV001459080] Chr11:62392260 [GRCh38]
Chr11:62159732 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.722-8G>C single nucleotide variant not provided [RCV001434390] Chr11:62392071 [GRCh38]
Chr11:62159543 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.369G>A (p.Ala123=) single nucleotide variant not provided [RCV001404810] Chr11:62357022 [GRCh38]
Chr11:62124494 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.300T>C (p.Asn100=) single nucleotide variant not provided [RCV001437509] Chr11:62356434 [GRCh38]
Chr11:62123906 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.879G>C (p.Leu293=) single nucleotide variant not provided [RCV001428137] Chr11:62392236 [GRCh38]
Chr11:62159708 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.596A>T (p.Asp199Val) single nucleotide variant not provided [RCV001874063] Chr11:62389237 [GRCh38]
Chr11:62156709 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.871G>C (p.Gly291Arg) single nucleotide variant not provided [RCV001987634] Chr11:62392228 [GRCh38]
Chr11:62159700 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.901G>A (p.Asp301Asn) single nucleotide variant not provided [RCV001929888] Chr11:62392258 [GRCh38]
Chr11:62159730 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.833G>A (p.Trp278Ter) single nucleotide variant not provided [RCV001927172] Chr11:62392190 [GRCh38]
Chr11:62159662 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.47C>G (p.Ser16Cys) single nucleotide variant not provided [RCV002025818] Chr11:62338024 [GRCh38]
Chr11:62105496 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV002043335] Chr11:62356451 [GRCh38]
Chr11:62123923 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.815G>A (p.Gly272Glu) single nucleotide variant not provided [RCV001970986] Chr11:62392172 [GRCh38]
Chr11:62159644 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.632A>G (p.Asn211Ser) single nucleotide variant not provided [RCV002043638] Chr11:62391543 [GRCh38]
Chr11:62159015 [GRCh37]
Chr11:11q12.3		 uncertain significance
NC_000011.9:g.(?_62105450)_(62124636_?)del deletion not provided [RCV001927972] Chr11:62105450..62124636 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.820T>G (p.Trp274Gly) single nucleotide variant not provided [RCV002006347] Chr11:62392177 [GRCh38]
Chr11:62159649 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.586C>T (p.Arg196Cys) single nucleotide variant not provided [RCV001965470] Chr11:62389227 [GRCh38]
Chr11:62156699 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.67G>A (p.Val23Met) single nucleotide variant not provided [RCV001890607] Chr11:62338044 [GRCh38]
Chr11:62105516 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.465dup (p.Gly156fs) duplication not provided [RCV002041115] Chr11:62357113..62357114 [GRCh38]
Chr11:62124585..62124586 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.752C>T (p.Ser251Leu) single nucleotide variant not provided [RCV001967092] Chr11:62392109 [GRCh38]
Chr11:62159581 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.890T>C (p.Ile297Thr) single nucleotide variant not provided [RCV002021343] Chr11:62392247 [GRCh38]
Chr11:62159719 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.587G>A (p.Arg196His) single nucleotide variant Inborn genetic diseases [RCV002552845]|not provided [RCV001890378] Chr11:62389228 [GRCh38]
Chr11:62156700 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.479C>G (p.Thr160Arg) single nucleotide variant not provided [RCV001969799] Chr11:62357132 [GRCh38]
Chr11:62124604 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.115C>T (p.Arg39Trp) single nucleotide variant not provided [RCV001968264] Chr11:62338092 [GRCh38]
Chr11:62105564 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.37G>A (p.Gly13Ser) single nucleotide variant not provided [RCV001901666] Chr11:62338014 [GRCh38]
Chr11:62105486 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.583G>A (p.Gly195Ser) single nucleotide variant not provided [RCV002034021] Chr11:62389224 [GRCh38]
Chr11:62156696 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.500G>A (p.Gly167Glu) single nucleotide variant not provided [RCV001903335] Chr11:62389141 [GRCh38]
Chr11:62156613 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.602C>T (p.Pro201Leu) single nucleotide variant not provided [RCV001942682] Chr11:62389243 [GRCh38]
Chr11:62156715 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.640G>A (p.Gly214Arg) single nucleotide variant not provided [RCV001886484] Chr11:62391551 [GRCh38]
Chr11:62159023 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.379G>A (p.Ala127Thr) single nucleotide variant not provided [RCV001944849] Chr11:62357032 [GRCh38]
Chr11:62124504 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.333+3A>T single nucleotide variant not provided [RCV001887445] Chr11:62356470 [GRCh38]
Chr11:62123942 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.628G>A (p.Asp210Asn) single nucleotide variant not provided [RCV002033616] Chr11:62391539 [GRCh38]
Chr11:62159011 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.658G>C (p.Gly220Arg) single nucleotide variant not provided [RCV002036115] Chr11:62391569 [GRCh38]
Chr11:62159041 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.328G>T (p.Glu110Ter) single nucleotide variant not provided [RCV002011266] Chr11:62356462 [GRCh38]
Chr11:62123934 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.391del (p.Val131fs) deletion not provided [RCV002017614] Chr11:62357040 [GRCh38]
Chr11:62124512 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.916G>A (p.Asp306Asn) single nucleotide variant Inborn genetic diseases [RCV003264357]|not provided [RCV001976558] Chr11:62392273 [GRCh38]
Chr11:62159745 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.894T>A (p.Asp298Glu) single nucleotide variant not provided [RCV001876875] Chr11:62392251 [GRCh38]
Chr11:62159723 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.916G>C (p.Asp306His) single nucleotide variant not provided [RCV001922114] Chr11:62392273 [GRCh38]
Chr11:62159745 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.296C>A (p.Ala99Glu) single nucleotide variant not provided [RCV001995920] Chr11:62356430 [GRCh38]
Chr11:62123902 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.191-18A>G single nucleotide variant not provided [RCV001881356] Chr11:62356307 [GRCh38]
Chr11:62123779 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.189A>G (p.Ala63=) single nucleotide variant not provided [RCV002026977] Chr11:62338166 [GRCh38]
Chr11:62105638 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.239G>T (p.Ser80Ile) single nucleotide variant not provided [RCV001972985] Chr11:62356373 [GRCh38]
Chr11:62123845 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.116G>A (p.Arg39Gln) single nucleotide variant not provided [RCV001981288] Chr11:62338093 [GRCh38]
Chr11:62105565 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.590T>C (p.Val197Ala) single nucleotide variant not provided [RCV002012030] Chr11:62389231 [GRCh38]
Chr11:62156703 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.97dup (p.Val33fs) duplication not provided [RCV001976211] Chr11:62338073..62338074 [GRCh38]
Chr11:62105545..62105546 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.82G>A (p.Val28Ile) single nucleotide variant not provided [RCV002031588] Chr11:62338059 [GRCh38]
Chr11:62105531 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.799G>A (p.Val267Met) single nucleotide variant not provided [RCV001998271] Chr11:62392156 [GRCh38]
Chr11:62159628 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.505G>A (p.Val169Met) single nucleotide variant not provided [RCV001960296] Chr11:62389146 [GRCh38]
Chr11:62156618 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.170A>G (p.Asp57Gly) single nucleotide variant not provided [RCV001870306] Chr11:62338147 [GRCh38]
Chr11:62105619 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.572A>G (p.Asn191Ser) single nucleotide variant not provided [RCV001953117] Chr11:62389213 [GRCh38]
Chr11:62156685 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.4A>G (p.Asn2Asp) single nucleotide variant not provided [RCV002049168] Chr11:62337981 [GRCh38]
Chr11:62105453 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.615T>G (p.Ala205=) single nucleotide variant not provided [RCV002085650] Chr11:62391526 [GRCh38]
Chr11:62158998 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.267A>G (p.Ala89=) single nucleotide variant not provided [RCV002110559] Chr11:62356401 [GRCh38]
Chr11:62123873 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.99G>C (p.Val33=) single nucleotide variant not provided [RCV002108754] Chr11:62338076 [GRCh38]
Chr11:62105548 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.190+11del deletion not provided [RCV002168568] Chr11:62338177 [GRCh38]
Chr11:62105649 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.192T>C (p.Gly64=) single nucleotide variant not provided [RCV002186851] Chr11:62356326 [GRCh38]
Chr11:62123798 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.540A>G (p.Val180=) single nucleotide variant not provided [RCV002186941] Chr11:62389181 [GRCh38]
Chr11:62156653 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.491+13T>G single nucleotide variant not provided [RCV002208588] Chr11:62357157 [GRCh38]
Chr11:62124629 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.237T>C (p.Ala79=) single nucleotide variant not provided [RCV002174978] Chr11:62356371 [GRCh38]
Chr11:62123843 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.156C>T (p.Val52=) single nucleotide variant not provided [RCV002212735] Chr11:62338133 [GRCh38]
Chr11:62105605 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.190+12T>C single nucleotide variant not provided [RCV002191484] Chr11:62338179 [GRCh38]
Chr11:62105651 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.492-17C>G single nucleotide variant not provided [RCV002209974] Chr11:62389116 [GRCh38]
Chr11:62156588 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.611-13C>G single nucleotide variant not provided [RCV002213703] Chr11:62391509 [GRCh38]
Chr11:62158981 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.432C>T (p.Asn144=) single nucleotide variant not provided [RCV002174800] Chr11:62357085 [GRCh38]
Chr11:62124557 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.588C>T (p.Arg196=) single nucleotide variant not provided [RCV002077415] Chr11:62389229 [GRCh38]
Chr11:62156701 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.870C>T (p.Asp290=) single nucleotide variant not provided [RCV002115540] Chr11:62392227 [GRCh38]
Chr11:62159699 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.282A>G (p.Ala94=) single nucleotide variant not provided [RCV002215621] Chr11:62356416 [GRCh38]
Chr11:62123888 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.204C>T (p.Val68=) single nucleotide variant not provided [RCV002157332] Chr11:62356338 [GRCh38]
Chr11:62123810 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.722-4del deletion not provided [RCV002098663] Chr11:62392072 [GRCh38]
Chr11:62159544 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.885C>T (p.Phe295=) single nucleotide variant not provided [RCV002101547] Chr11:62392242 [GRCh38]
Chr11:62159714 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.702C>T (p.Thr234=) single nucleotide variant not provided [RCV002121542] Chr11:62391613 [GRCh38]
Chr11:62159085 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.771A>C (p.Ser257=) single nucleotide variant not provided [RCV002184832] Chr11:62392128 [GRCh38]
Chr11:62159600 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.666G>A (p.Gly222=) single nucleotide variant not provided [RCV002120058] Chr11:62391577 [GRCh38]
Chr11:62159049 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.30C>T (p.Gly10=) single nucleotide variant not provided [RCV002122042] Chr11:62338007 [GRCh38]
Chr11:62105479 [GRCh37]
Chr11:11q12.3		 likely benign
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1		 uncertain significance|no classifications from unflagged records
NC_000011.9:g.(?_62156585)_(62159756_?)dup duplication not provided [RCV003122504] Chr11:62156585..62159756 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001083926.2(ASRGL1):c.910_911del (p.Ile304fs) deletion not provided [RCV002727160] Chr11:62392266..62392267 [GRCh38]
Chr11:62159738..62159739 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.521T>C (p.Leu174Ser) single nucleotide variant not provided [RCV002300277] Chr11:62389162 [GRCh38]
Chr11:62156634 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.774G>C (p.Arg258Ser) single nucleotide variant Inborn genetic diseases [RCV002837140]|not provided [RCV003777844] Chr11:62392131 [GRCh38]
Chr11:62159603 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.333+16G>A single nucleotide variant not provided [RCV002904016] Chr11:62356483 [GRCh38]
Chr11:62123955 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.824T>C (p.Val275Ala) single nucleotide variant not provided [RCV002837637] Chr11:62392181 [GRCh38]
Chr11:62159653 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.439C>T (p.Arg147Cys) single nucleotide variant Inborn genetic diseases [RCV002864253] Chr11:62357092 [GRCh38]
Chr11:62124564 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.402del (p.Pro135fs) deletion not provided [RCV003017337] Chr11:62357054 [GRCh38]
Chr11:62124526 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.378A>T (p.Ala126=) single nucleotide variant not provided [RCV002617395] Chr11:62357031 [GRCh38]
Chr11:62124503 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.501A>G (p.Gly167=) single nucleotide variant not provided [RCV002727040] Chr11:62389142 [GRCh38]
Chr11:62156614 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.176C>T (p.Pro59Leu) single nucleotide variant not provided [RCV003034397] Chr11:62338153 [GRCh38]
Chr11:62105625 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.137A>G (p.Asp46Gly) single nucleotide variant Inborn genetic diseases [RCV002997418] Chr11:62338114 [GRCh38]
Chr11:62105586 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.200C>T (p.Ser67Phe) single nucleotide variant not provided [RCV002696009] Chr11:62356334 [GRCh38]
Chr11:62123806 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.909T>C (p.Thr303=) single nucleotide variant not provided [RCV003039201] Chr11:62392266 [GRCh38]
Chr11:62159738 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.143_178del (p.Val48_Pro59del) deletion not provided [RCV002659414] Chr11:62338117..62338152 [GRCh38]
Chr11:62105589..62105624 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.191-1G>C single nucleotide variant not provided [RCV003054328] Chr11:62356324 [GRCh38]
Chr11:62123796 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.260T>A (p.Leu87Gln) single nucleotide variant not provided [RCV002706593] Chr11:62356394 [GRCh38]
Chr11:62123866 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.334-14dup duplication not provided [RCV002639958] Chr11:62356969..62356970 [GRCh38]
Chr11:62124441..62124442 [GRCh37]
Chr11:11q12.3		 benign
NM_001083926.2(ASRGL1):c.895C>T (p.Pro299Ser) single nucleotide variant not provided [RCV002948650] Chr11:62392252 [GRCh38]
Chr11:62159724 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.363C>T (p.Gly121=) single nucleotide variant not provided [RCV002785230] Chr11:62357016 [GRCh38]
Chr11:62124488 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.292A>G (p.Ile98Val) single nucleotide variant not provided [RCV002706421] Chr11:62356426 [GRCh38]
Chr11:62123898 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.721+11C>A single nucleotide variant not provided [RCV002870700] Chr11:62391643 [GRCh38]
Chr11:62159115 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.646G>A (p.Val216Ile) single nucleotide variant not provided [RCV002621694] Chr11:62391557 [GRCh38]
Chr11:62159029 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.750A>G (p.Leu250=) single nucleotide variant not provided [RCV002576305] Chr11:62392107 [GRCh38]
Chr11:62159579 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.654C>T (p.Thr218=) single nucleotide variant not provided [RCV002572557] Chr11:62391565 [GRCh38]
Chr11:62159037 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.568G>T (p.Val190Phe) single nucleotide variant Inborn genetic diseases [RCV002830873] Chr11:62389209 [GRCh38]
Chr11:62156681 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.762T>C (p.Tyr254=) single nucleotide variant not provided [RCV002932354] Chr11:62392119 [GRCh38]
Chr11:62159591 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.429A>G (p.Arg143=) single nucleotide variant not provided [RCV003007428] Chr11:62357082 [GRCh38]
Chr11:62124554 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.445G>C (p.Glu149Gln) single nucleotide variant not provided [RCV003083415] Chr11:62357098 [GRCh38]
Chr11:62124570 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.334-20C>A single nucleotide variant not provided [RCV002791285] Chr11:62356967 [GRCh38]
Chr11:62124439 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.333G>T (p.Lys111Asn) single nucleotide variant not provided [RCV002791300] Chr11:62356467 [GRCh38]
Chr11:62123939 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.369G>C (p.Ala123=) single nucleotide variant not provided [RCV002875528] Chr11:62357022 [GRCh38]
Chr11:62124494 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.579G>A (p.Met193Ile) single nucleotide variant not provided [RCV002825784] Chr11:62389220 [GRCh38]
Chr11:62156692 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.205T>C (p.Leu69=) single nucleotide variant not provided [RCV002593598] Chr11:62356339 [GRCh38]
Chr11:62123811 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.880C>T (p.His294Tyr) single nucleotide variant not provided [RCV002711326] Chr11:62392237 [GRCh38]
Chr11:62159709 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.619G>A (p.Gly207Ser) single nucleotide variant not provided [RCV002801762] Chr11:62391530 [GRCh38]
Chr11:62159002 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.610+13G>C single nucleotide variant not provided [RCV002852052] Chr11:62389264 [GRCh38]
Chr11:62156736 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.76G>T (p.Gly26Cys) single nucleotide variant not provided [RCV002627036] Chr11:62338053 [GRCh38]
Chr11:62105525 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.492-9T>A single nucleotide variant not provided [RCV003006179] Chr11:62389124 [GRCh38]
Chr11:62156596 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.130G>A (p.Ala44Thr) single nucleotide variant not provided [RCV002932979] Chr11:62338107 [GRCh38]
Chr11:62105579 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.721+16G>A single nucleotide variant not provided [RCV002745577] Chr11:62391648 [GRCh38]
Chr11:62159120 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.334-20_334-16del deletion not provided [RCV003024241] Chr11:62356965..62356969 [GRCh38]
Chr11:62124437..62124441 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.85A>G (p.Arg29Gly) single nucleotide variant not provided [RCV002625592] Chr11:62338062 [GRCh38]
Chr11:62105534 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.610+9A>G single nucleotide variant not provided [RCV002666960] Chr11:62389260 [GRCh38]
Chr11:62156732 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.214A>G (p.Asn72Asp) single nucleotide variant not provided [RCV003024646] Chr11:62356348 [GRCh38]
Chr11:62123820 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.695G>A (p.Arg232Lys) single nucleotide variant Inborn genetic diseases [RCV002812582]|not provided [RCV003679147] Chr11:62391606 [GRCh38]
Chr11:62159078 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.21C>T (p.Val7=) single nucleotide variant not provided [RCV002715844] Chr11:62337998 [GRCh38]
Chr11:62105470 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.111C>T (p.Ile37=) single nucleotide variant not provided [RCV003090383] Chr11:62338088 [GRCh38]
Chr11:62105560 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.334-18C>A single nucleotide variant not provided [RCV002601590] Chr11:62356969 [GRCh38]
Chr11:62124441 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.280G>A (p.Ala94Thr) single nucleotide variant Inborn genetic diseases [RCV002601651]|not provided [RCV002613051] Chr11:62356414 [GRCh38]
Chr11:62123886 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.468T>C (p.Gly156=) single nucleotide variant not provided [RCV003045106] Chr11:62357121 [GRCh38]
Chr11:62124593 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.511G>C (p.Ala171Pro) single nucleotide variant not provided [RCV002922986] Chr11:62389152 [GRCh38]
Chr11:62156624 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.774G>A (p.Arg258=) single nucleotide variant not provided [RCV002814595] Chr11:62392131 [GRCh38]
Chr11:62159603 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.725A>G (p.Lys242Arg) single nucleotide variant Inborn genetic diseases [RCV002724857]|not provided [RCV003730379] Chr11:62392082 [GRCh38]
Chr11:62159554 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.610+8C>T single nucleotide variant not provided [RCV002815140] Chr11:62389259 [GRCh38]
Chr11:62156731 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.639C>T (p.Ile213=) single nucleotide variant not provided [RCV002586596] Chr11:62391550 [GRCh38]
Chr11:62159022 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.334-9C>T single nucleotide variant not provided [RCV002609899] Chr11:62356978 [GRCh38]
Chr11:62124450 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.76G>A (p.Gly26Ser) single nucleotide variant not provided [RCV002676750] Chr11:62338053 [GRCh38]
Chr11:62105525 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.610+16G>A single nucleotide variant not provided [RCV002604468] Chr11:62389267 [GRCh38]
Chr11:62156739 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.434A>G (p.Lys145Arg) single nucleotide variant not provided [RCV002589061] Chr11:62357087 [GRCh38]
Chr11:62124559 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.325A>G (p.Met109Val) single nucleotide variant not provided [RCV002607849] Chr11:62356459 [GRCh38]
Chr11:62123931 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.551C>A (p.Thr184Asn) single nucleotide variant not provided [RCV002635453] Chr11:62389192 [GRCh38]
Chr11:62156664 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.327G>A (p.Met109Ile) single nucleotide variant not provided [RCV003666216] Chr11:62356461 [GRCh38]
Chr11:62123933 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_001083926.2(ASRGL1):c.492-7325G>A single nucleotide variant not provided [RCV003395842] Chr11:62381808 [GRCh38]
Chr11:62149280 [GRCh37]
Chr11:11q12.3		 likely benign
NC_000011.10:g.62391524_62391579del deletion not provided [RCV003692580] Chr11:62391521..62391576 [GRCh38]
Chr11:62158993..62159048 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.666G>T (p.Gly222=) single nucleotide variant not provided [RCV003692581] Chr11:62391577 [GRCh38]
Chr11:62159049 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.861C>T (p.Ala287=) single nucleotide variant not provided [RCV003876284] Chr11:62392218 [GRCh38]
Chr11:62159690 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.610+11G>A single nucleotide variant not provided [RCV003662361] Chr11:62389262 [GRCh38]
Chr11:62156734 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.56G>T (p.Arg19Leu) single nucleotide variant not provided [RCV003544471] Chr11:62338033 [GRCh38]
Chr11:62105505 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.773G>A (p.Arg258Lys) single nucleotide variant not provided [RCV003574457] Chr11:62392130 [GRCh38]
Chr11:62159602 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.50A>G (p.Lys17Arg) single nucleotide variant not provided [RCV003827530] Chr11:62338027 [GRCh38]
Chr11:62105499 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.334-16T>C single nucleotide variant not provided [RCV003690416] Chr11:62356971 [GRCh38]
Chr11:62124443 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.605G>A (p.Cys202Tyr) single nucleotide variant not provided [RCV003687602] Chr11:62389246 [GRCh38]
Chr11:62156718 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.293T>A (p.Ile98Lys) single nucleotide variant not provided [RCV003699446] Chr11:62356427 [GRCh38]
Chr11:62123899 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.882C>G (p.His294Gln) single nucleotide variant not provided [RCV003697526] Chr11:62392239 [GRCh38]
Chr11:62159711 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.314C>A (p.Ala105Asp) single nucleotide variant not provided [RCV003548550] Chr11:62356448 [GRCh38]
Chr11:62123920 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.555C>T (p.Ser185=) single nucleotide variant not provided [RCV003700360] Chr11:62389196 [GRCh38]
Chr11:62156668 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.16G>A (p.Val6Met) single nucleotide variant not provided [RCV003839745] Chr11:62337993 [GRCh38]
Chr11:62105465 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.247G>A (p.Asp83Asn) single nucleotide variant not provided [RCV003700794] Chr11:62356381 [GRCh38]
Chr11:62123853 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.726G>A (p.Lys242=) single nucleotide variant not provided [RCV003709322] Chr11:62392083 [GRCh38]
Chr11:62159555 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.190+15C>T single nucleotide variant not provided [RCV003820889] Chr11:62338182 [GRCh38]
Chr11:62105654 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.729G>T (p.Thr243=) single nucleotide variant not provided [RCV003568331] Chr11:62392086 [GRCh38]
Chr11:62159558 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.411A>G (p.Glu137=) single nucleotide variant not provided [RCV003869498] Chr11:62357064 [GRCh38]
Chr11:62124536 [GRCh37]
Chr11:11q12.3		 likely benign
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
NM_001083926.2(ASRGL1):c.141C>A (p.Ala47=) single nucleotide variant not provided [RCV003847785] Chr11:62338118 [GRCh38]
Chr11:62105590 [GRCh37]
Chr11:11q12.3		 likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
NM_001083926.2(ASRGL1):c.695G>C (p.Arg232Thr) single nucleotide variant not provided [RCV003846072] Chr11:62391606 [GRCh38]
Chr11:62159078 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.491+20C>T single nucleotide variant not provided [RCV003841939] Chr11:62357164 [GRCh38]
Chr11:62124636 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.455A>G (p.Lys152Arg) single nucleotide variant not provided [RCV003844622] Chr11:62357108 [GRCh38]
Chr11:62124580 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001083926.2(ASRGL1):c.249T>C (p.Asp83=) single nucleotide variant not provided [RCV003678426] Chr11:62356383 [GRCh38]
Chr11:62123855 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001083926.2(ASRGL1):c.-9T>C single nucleotide variant ASRGL1-related condition [RCV003974393] Chr11:62337969 [GRCh38]
Chr11:62105441 [GRCh37]
Chr11:11q12.3		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2635
Count of miRNA genes:930
Interacting mature miRNAs:1121
Transcripts:ENST00000301776, ENST00000415229, ENST00000525496, ENST00000525708, ENST00000526096, ENST00000528206, ENST00000529226, ENST00000533970, ENST00000534183, ENST00000534571, ENST00000535727
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
STS-T23913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,160,709 - 62,160,863UniSTSGRCh37
Build 361161,917,285 - 61,917,439RGDNCBI36
Celera1159,490,112 - 59,490,266RGD
Cytogenetic Map11q12.3UniSTS
HuRef1158,488,799 - 58,488,953UniSTS
GeneMap99-GB4 RH Map11228.98UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 199 9 270 60 99 41 449 47 2833 238 741 691 24 365 26
Low 2233 2723 1366 486 1635 347 3641 2061 897 172 669 912 149 1 839 2609 5 2
Below cutoff 7 259 90 78 196 77 266 88 4 9 50 9 1 153 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001083926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF411076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP308677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA159051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT220454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301776   ⟹   ENSP00000301776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,453 - 62,393,406 (+)Ensembl
RefSeq Acc Id: ENST00000415229   ⟹   ENSP00000400057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,448 - 62,393,412 (+)Ensembl
RefSeq Acc Id: ENST00000525496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,459 - 62,338,338 (+)Ensembl
RefSeq Acc Id: ENST00000525708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,391,498 - 62,392,585 (+)Ensembl
RefSeq Acc Id: ENST00000526096   ⟹   ENSP00000482684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,503 - 62,357,132 (+)Ensembl
RefSeq Acc Id: ENST00000528206   ⟹   ENSP00000484457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,357,053 - 62,383,247 (+)Ensembl
RefSeq Acc Id: ENST00000529226   ⟹   ENSP00000433136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,470 - 62,389,165 (+)Ensembl
RefSeq Acc Id: ENST00000533970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,391,897 - 62,392,568 (+)Ensembl
RefSeq Acc Id: ENST00000534183   ⟹   ENSP00000431772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,451 - 62,389,826 (+)Ensembl
RefSeq Acc Id: ENST00000534571   ⟹   ENSP00000478649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,495 - 62,357,201 (+)Ensembl
RefSeq Acc Id: ENST00000628829   ⟹   ENSP00000486943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,337,493 - 62,392,568 (+)Ensembl
RefSeq Acc Id: NM_001083926   ⟹   NP_001077395
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,448 - 62,393,412 (+)NCBI
GRCh371162,104,774 - 62,160,887 (+)RGD
Build 361161,861,350 - 61,917,463 (+)NCBI Archive
Celera1159,434,150 - 59,490,290 (+)RGD
HuRef1158,433,119 - 58,488,977 (+)RGD
CHM1_11161,987,987 - 62,043,930 (+)NCBI
T2T-CHM13v2.01162,326,729 - 62,382,841 (+)NCBI
Sequence:
RefSeq Acc Id: NM_025080   ⟹   NP_079356
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,448 - 62,393,412 (+)NCBI
GRCh371162,104,774 - 62,160,887 (+)RGD
Build 361161,861,350 - 61,917,463 (+)NCBI Archive
Celera1159,434,150 - 59,490,290 (+)RGD
HuRef1158,433,119 - 58,488,977 (+)RGD
CHM1_11161,987,987 - 62,043,930 (+)NCBI
T2T-CHM13v2.01162,326,729 - 62,382,841 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545265   ⟹   XP_011543567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,448 - 62,401,431 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545266   ⟹   XP_011543568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,448 - 62,383,248 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427631   ⟹   XP_047283587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,448 - 62,391,633 (+)NCBI
RefSeq Acc Id: XM_047427632   ⟹   XP_047283588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,448 - 62,383,248 (+)NCBI
RefSeq Acc Id: XM_054370025   ⟹   XP_054226000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,326,729 - 62,390,808 (+)NCBI
RefSeq Acc Id: XM_054370026   ⟹   XP_054226001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,326,729 - 62,381,069 (+)NCBI
RefSeq Acc Id: XM_054370027   ⟹   XP_054226002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,326,729 - 62,374,257 (+)NCBI
RefSeq Acc Id: XM_054370028   ⟹   XP_054226003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,326,729 - 62,374,257 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001077395 (Get FASTA)   NCBI Sequence Viewer  
  NP_079356 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543567 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543568 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283587 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283588 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226000 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226001 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226002 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226003 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06267 (Get FASTA)   NCBI Sequence Viewer  
  AAH21295 (Get FASTA)   NCBI Sequence Viewer  
  AAH64963 (Get FASTA)   NCBI Sequence Viewer  
  AAH93070 (Get FASTA)   NCBI Sequence Viewer  
  AAM28434 (Get FASTA)   NCBI Sequence Viewer  
  AEE61252 (Get FASTA)   NCBI Sequence Viewer  
  BAG35897 (Get FASTA)   NCBI Sequence Viewer  
  BAG52245 (Get FASTA)   NCBI Sequence Viewer  
  BAG52437 (Get FASTA)   NCBI Sequence Viewer  
  BAG59656 (Get FASTA)   NCBI Sequence Viewer  
  EAW74012 (Get FASTA)   NCBI Sequence Viewer  
  EAW74013 (Get FASTA)   NCBI Sequence Viewer  
  EAW74014 (Get FASTA)   NCBI Sequence Viewer  
  EAW74015 (Get FASTA)   NCBI Sequence Viewer  
  EAW74016 (Get FASTA)   NCBI Sequence Viewer  
  EAW74017 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000301776
  ENSP00000301776.5
  ENSP00000400057
  ENSP00000400057.2
  ENSP00000431772.1
  ENSP00000433136.1
  ENSP00000478649
  ENSP00000478649.1
  ENSP00000482684.1
  ENSP00000484457.1
  ENSP00000486943.1
GenBank Protein Q7L266 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001077395   ⟸   NM_001083926
- UniProtKB: Q8NI34 (UniProtKB/Swiss-Prot),   Q6P1P0 (UniProtKB/Swiss-Prot),   Q567Q4 (UniProtKB/Swiss-Prot),   B2R7Q0 (UniProtKB/Swiss-Prot),   Q9H6F7 (UniProtKB/Swiss-Prot),   Q7L266 (UniProtKB/Swiss-Prot),   A0A024R573 (UniProtKB/TrEMBL),   B3KR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_079356   ⟸   NM_025080
- UniProtKB: Q8NI34 (UniProtKB/Swiss-Prot),   Q6P1P0 (UniProtKB/Swiss-Prot),   Q567Q4 (UniProtKB/Swiss-Prot),   B2R7Q0 (UniProtKB/Swiss-Prot),   Q9H6F7 (UniProtKB/Swiss-Prot),   Q7L266 (UniProtKB/Swiss-Prot),   A0A024R573 (UniProtKB/TrEMBL),   B3KR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543567   ⟸   XM_011545265
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543568   ⟸   XM_011545266
- Peptide Label: isoform X3
- UniProtKB: A0A087WUG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000400057   ⟸   ENST00000415229
RefSeq Acc Id: ENSP00000431772   ⟸   ENST00000534183
RefSeq Acc Id: ENSP00000478649   ⟸   ENST00000534571
RefSeq Acc Id: ENSP00000486943   ⟸   ENST00000628829
RefSeq Acc Id: ENSP00000301776   ⟸   ENST00000301776
RefSeq Acc Id: ENSP00000482684   ⟸   ENST00000526096
RefSeq Acc Id: ENSP00000484457   ⟸   ENST00000528206
RefSeq Acc Id: ENSP00000433136   ⟸   ENST00000529226
RefSeq Acc Id: XP_047283587   ⟸   XM_047427631
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283588   ⟸   XM_047427632
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226000   ⟸   XM_054370025
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226001   ⟸   XM_054370026
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226003   ⟸   XM_054370028
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226002   ⟸   XM_054370027
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L266-F1-model_v2 AlphaFold Q7L266 1-308 view protein structure

Promoters
RGD ID:6788499
Promoter ID:HG_KWN:13095
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001083926,   NM_025080,   UC001NTG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,861,266 - 61,861,766 (+)MPROMDB
RGD ID:7220633
Promoter ID:EPDNEW_H16063
Type:initiation region
Name:ASRGL1_1
Description:asparaginase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,337,457 - 62,337,517EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16448 AgrOrtholog
COSMIC ASRGL1 COSMIC
Ensembl Genes ENSG00000162174 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301776 ENTREZGENE
  ENST00000301776.9 UniProtKB/Swiss-Prot
  ENST00000415229 ENTREZGENE
  ENST00000415229.6 UniProtKB/Swiss-Prot
  ENST00000526096.2 UniProtKB/TrEMBL
  ENST00000528206.1 UniProtKB/TrEMBL
  ENST00000529226.3 UniProtKB/TrEMBL
  ENST00000534183.5 UniProtKB/TrEMBL
  ENST00000534571 ENTREZGENE
  ENST00000534571.5 UniProtKB/TrEMBL
  ENST00000628829.2 UniProtKB/TrEMBL
Gene3D-CATH (Glycosyl)asparaginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162174 GTEx
HGNC ID HGNC:16448 ENTREZGENE
Human Proteome Map ASRGL1 Human Proteome Map
InterPro ASRGL1_meta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_T2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 80150 ENTREZGENE
OMIM 609212 OMIM
PANTHER ISOASPARTYL PEPTIDASE/L-ASPARAGINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10188 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Asparaginase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25059 PharmGKB
Superfamily-SCOP SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R573 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WUG3 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WZI5_HUMAN UniProtKB/TrEMBL
  A0A087X1T8_HUMAN UniProtKB/TrEMBL
  ASGL1_HUMAN UniProtKB/Swiss-Prot
  B2R7Q0 ENTREZGENE
  B3KR33 ENTREZGENE, UniProtKB/TrEMBL
  E9PJK6_HUMAN UniProtKB/TrEMBL
  Q567Q4 ENTREZGENE
  Q6P1P0 ENTREZGENE
  Q7L266 ENTREZGENE
  Q8NI34 ENTREZGENE
  Q9BRH2_HUMAN UniProtKB/TrEMBL
  Q9H6F7 ENTREZGENE
UniProt Secondary B2R7Q0 UniProtKB/Swiss-Prot
  Q567Q4 UniProtKB/Swiss-Prot
  Q6P1P0 UniProtKB/Swiss-Prot
  Q8NI34 UniProtKB/Swiss-Prot
  Q9H6F7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-12 ASRGL1  asparaginase and isoaspartyl peptidase 1  ASRGL1  asparaginase like 1  Symbol and/or name change 5135510 APPROVED