SPTA1 (spectrin alpha, erythrocytic 1) - Rat Genome Database

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Gene: SPTA1 (spectrin alpha, erythrocytic 1) Homo sapiens
Analyze
Symbol: SPTA1
Name: spectrin alpha, erythrocytic 1
RGD ID: 1313077
HGNC Page HGNC
Description: Predicted to have actin filament binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in actin cytoskeleton organization. Localizes to spectrin-associated cytoskeleton. Implicated in hereditary spherocytosis and hereditary spherocytosis type 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-I spectrin; EL2; elliptocytosis 2; erythroid alpha-spectrin; HPP; HS3; mutant alpha spectrin; spectrin alpha chain, erythrocyte; spectrin alpha chain, erythrocytic 1; spectrin, alpha, erythrocytic 1 (elliptocytosis 2); SPH3; SPTA
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh38.p13 Ensembl1158,610,704 - 158,686,715 (-)EnsemblGRCh38hg38GRCh38
GRCh381158,610,498 - 158,686,715 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371158,580,494 - 158,656,505 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361156,847,120 - 156,923,130 (-)NCBINCBI36hg18NCBI36
Build 341155,393,568 - 155,469,561NCBI
Celera1131,651,547 - 131,727,219 (-)NCBI
Cytogenetic Map1q23.1NCBI
HuRef1129,938,262 - 130,013,934 (-)NCBIHuRef
CHM1_11159,976,850 - 160,052,530 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

Additional References at PubMed
PMID:379653   PMID:1339473   PMID:1391962   PMID:1541680   PMID:1634521   PMID:1638030   PMID:1672285   PMID:1679439   PMID:1689726   PMID:1845156   PMID:1878597   PMID:1991513  
PMID:2056132   PMID:2070088   PMID:2346784   PMID:2384601   PMID:2568861   PMID:2568862   PMID:2794061   PMID:2807277   PMID:2936753   PMID:2971657   PMID:3000887   PMID:3027087  
PMID:3268039   PMID:3458204   PMID:3580577   PMID:3600811   PMID:6215583   PMID:6472478   PMID:6654895   PMID:6654896   PMID:7104494   PMID:7772539   PMID:7883966   PMID:7929303  
PMID:8018926   PMID:8040317   PMID:8094577   PMID:8102379   PMID:8193371   PMID:8226774   PMID:8364215   PMID:8434258   PMID:8486776   PMID:8493579   PMID:8626479   PMID:8844207  
PMID:8997639   PMID:9005995   PMID:9075575   PMID:9163587   PMID:9192783   PMID:9414314   PMID:9573679   PMID:9593709   PMID:9889281   PMID:10187839   PMID:10215350   PMID:10551855  
PMID:10852813   PMID:10950304   PMID:11165260   PMID:11856323   PMID:12049649   PMID:12105217   PMID:12119179   PMID:12196550   PMID:12432217   PMID:12571280   PMID:12672815   PMID:12820899  
PMID:14625392   PMID:15161933   PMID:15203218   PMID:15310273   PMID:15456760   PMID:15492010   PMID:15795915   PMID:15929114   PMID:16051665   PMID:16150946   PMID:16171554   PMID:16336193  
PMID:16407147   PMID:16461343   PMID:16551696   PMID:16841024   PMID:16889989   PMID:17414207   PMID:17885671   PMID:17905835   PMID:17977835   PMID:18218854   PMID:18548008   PMID:18815189  
PMID:19008453   PMID:19380743   PMID:19593814   PMID:19747366   PMID:19807924   PMID:19862010   PMID:20197550   PMID:20379614   PMID:20585040   PMID:20807499   PMID:20858683   PMID:21080425  
PMID:21412925   PMID:22164239   PMID:22197999   PMID:22727745   PMID:23200054   PMID:23222517   PMID:23373410   PMID:23533167   PMID:23935956   PMID:23974198   PMID:24003435   PMID:24077844  
PMID:24569979   PMID:25277063   PMID:25628009   PMID:25830635   PMID:26460568   PMID:26468747   PMID:28031328   PMID:28040451   PMID:28694211   PMID:29484404   PMID:29884876   PMID:30021884  
PMID:30198572   PMID:30393954   PMID:30404004   PMID:30442766   PMID:30575818   PMID:30631154   PMID:30804502   PMID:30816434   PMID:31038472   PMID:31397976   PMID:31452512   PMID:31854503  
PMID:32235678   PMID:32287101   PMID:32296183   PMID:33210974   PMID:33556202  


Genomics

Comparative Map Data
SPTA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1158,610,704 - 158,686,715 (-)EnsemblGRCh38hg38GRCh38
GRCh381158,610,498 - 158,686,715 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371158,580,494 - 158,656,505 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361156,847,120 - 156,923,130 (-)NCBINCBI36hg18NCBI36
Build 341155,393,568 - 155,469,561NCBI
Celera1131,651,547 - 131,727,219 (-)NCBI
Cytogenetic Map1q23.1NCBI
HuRef1129,938,262 - 130,013,934 (-)NCBIHuRef
CHM1_11159,976,850 - 160,052,530 (-)NCBICHM1_1
Spta1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391174,000,305 - 174,076,015 (+)NCBIGRCm39mm39
GRCm39 Ensembl1174,000,342 - 174,076,016 (+)Ensembl
GRCm381174,172,739 - 174,248,449 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1174,172,776 - 174,248,450 (+)EnsemblGRCm38mm10GRCm38
MGSCv371176,102,907 - 176,178,580 (+)NCBIGRCm37mm9NCBIm37
MGSCv361176,009,543 - 176,084,742 (+)NCBImm8
MGSCv361175,481,229 - 175,556,592 (+)NCBImm8
Celera1181,280,976 - 181,363,312 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map180.97NCBI
Spta1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21386,203,504 - 86,279,371 (+)NCBI
Rnor_6.0 Ensembl1392,264,231 - 92,340,083 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01392,264,231 - 92,340,091 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01396,782,387 - 96,860,327 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41389,951,924 - 90,028,592 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11390,140,807 - 90,217,468 (+)NCBI
Celera1385,806,253 - 85,882,378 (+)NCBICelera
Cytogenetic Map13q24NCBI
Spta1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546810,472,671 - 10,545,313 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546810,472,601 - 10,545,402 (-)NCBIChiLan1.0ChiLan1.0
SPTA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11137,760,188 - 137,836,131 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1137,760,942 - 137,835,927 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01133,969,717 - 134,045,301 (-)NCBIMhudiblu_PPA_v0panPan3
SPTA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13823,052,046 - 23,118,933 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3823,051,563 - 23,118,966 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3823,074,219 - 23,141,493 (+)NCBI
ROS_Cfam_1.03823,183,707 - 23,251,018 (+)NCBI
UMICH_Zoey_3.13822,946,752 - 23,013,687 (+)NCBI
UNSW_CanFamBas_1.03823,481,482 - 23,548,479 (+)NCBI
UU_Cfam_GSD_1.03823,912,752 - 23,979,956 (+)NCBI
Spta1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050584,995,049 - 5,068,389 (-)NCBI
SpeTri2.0NW_0049367401,686,218 - 1,759,083 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPTA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl491,485,067 - 91,640,063 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1491,573,470 - 91,640,057 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2499,567,778 - 99,634,336 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPTA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1205,238,246 - 5,314,204 (+)NCBI
ChlSab1.1 Ensembl205,238,447 - 5,313,887 (+)Ensembl
Vero_WHO_p1.0NW_0236660384,407,178 - 4,482,460 (+)NCBI
Spta1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247942,638,605 - 2,715,934 (-)NCBI

Position Markers
G15944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,580,862 - 158,580,978UniSTSGRCh37
Build 361156,847,486 - 156,847,602RGDNCBI36
Celera1131,651,913 - 131,652,027RGD
Cytogenetic Map1q21UniSTS
HuRef1129,938,627 - 129,938,741UniSTS
RH102597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,581,871 - 158,581,994UniSTSGRCh37
Build 361156,848,495 - 156,848,618RGDNCBI36
Celera1131,652,920 - 131,653,043RGD
Cytogenetic Map1q21UniSTS
HuRef1129,939,634 - 129,939,757UniSTS
GDB:181583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,643,924 - 158,644,328UniSTSGRCh37
Build 361156,910,548 - 156,910,952RGDNCBI36
Celera1131,714,643 - 131,715,047RGD
Cytogenetic Map1q21UniSTS
HuRef1130,001,357 - 130,001,761UniSTS
GDB:191077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,580,859 - 158,580,989UniSTSGRCh37
Build 361156,847,483 - 156,847,613RGDNCBI36
Celera1131,651,910 - 131,652,038RGD
Cytogenetic Map1q21UniSTS
HuRef1129,938,624 - 129,938,752UniSTS
GDB:196442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,580,850 - 158,581,061UniSTSGRCh37
Build 361156,847,474 - 156,847,685RGDNCBI36
Celera1131,651,901 - 131,652,110RGD
Cytogenetic Map1q21UniSTS
HuRef1129,938,615 - 129,938,824UniSTS
RH68459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,581,146 - 158,581,307UniSTSGRCh37
Build 361156,847,770 - 156,847,931RGDNCBI36
Celera1131,652,195 - 131,652,356RGD
Cytogenetic Map1q21UniSTS
HuRef1129,938,909 - 129,939,070UniSTS
GeneMap99-GB4 RH Map1568.56UniSTS
NCBI RH Map11427.3UniSTS
SPTA1__5309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,580,478 - 158,581,107UniSTSGRCh37
Build 361156,847,102 - 156,847,731RGDNCBI36
Celera1131,651,529 - 131,652,156RGD
HuRef1129,938,244 - 129,938,870UniSTS
RH69635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,590,420 - 158,590,619UniSTSGRCh37
Build 361156,857,044 - 156,857,243RGDNCBI36
Celera1131,661,471 - 131,661,670RGD
Cytogenetic Map1q21UniSTS
HuRef1129,948,189 - 129,948,388UniSTS
GeneMap99-GB4 RH Map1568.66UniSTS
NCBI RH Map11426.2UniSTS
D1S3249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,580,797 - 158,580,983UniSTSGRCh37
Build 361156,847,421 - 156,847,607RGDNCBI36
Celera1131,651,848 - 131,652,032RGD
Cytogenetic Map1q21UniSTS
HuRef1129,938,562 - 129,938,746UniSTS
Stanford-G3 RH Map16053.0UniSTS
GeneMap99-GB4 RH Map1568.36UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11426.2UniSTS
GeneMap99-G3 RH Map16009.0UniSTS
RH65132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,592,416 - 158,592,663UniSTSGRCh37
Build 361156,859,040 - 156,859,287RGDNCBI36
Celera1131,663,465 - 131,663,712RGD
Cytogenetic Map1q21UniSTS
HuRef1129,950,186 - 129,950,433UniSTS
GeneMap99-GB4 RH Map1569.25UniSTS
NCBI RH Map11426.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1101
Count of miRNA genes:668
Interacting mature miRNAs:742
Transcripts:ENST00000368147, ENST00000461624, ENST00000465741, ENST00000467387, ENST00000481212, ENST00000484520, ENST00000485680, ENST00000492934, ENST00000498708
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 46 14 14 80 14 1 1 2
Low 22 506 51 24 652 22 177 37 70 28 397 169 2 164 70 2
Below cutoff 1903 2244 1303 386 772 247 3658 1968 2670 176 732 1112 145 1035 2547 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF060556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY138967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU665064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD616351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000461624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,622,719 - 158,634,653 (-)Ensembl
RefSeq Acc Id: ENST00000465741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,639,229 - 158,642,532 (-)Ensembl
RefSeq Acc Id: ENST00000481212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,612,749 - 158,614,535 (-)Ensembl
RefSeq Acc Id: ENST00000484520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,619,186 - 158,620,789 (-)Ensembl
RefSeq Acc Id: ENST00000485680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,611,208 - 158,612,025 (-)Ensembl
RefSeq Acc Id: ENST00000492934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,614,748 - 158,618,101 (-)Ensembl
RefSeq Acc Id: ENST00000498708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,612,783 - 158,617,568 (-)Ensembl
RefSeq Acc Id: ENST00000643759   ⟹   ENSP00000495214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,610,704 - 158,686,715 (-)Ensembl
RefSeq Acc Id: ENST00000647256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1158,656,631 - 158,661,473 (-)Ensembl
RefSeq Acc Id: NM_003126   ⟹   NP_003117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,610,704 - 158,686,715 (-)NCBI
GRCh371158,580,496 - 158,656,506 (-)ENTREZGENE
Build 361156,847,120 - 156,923,130 (-)NCBI Archive
HuRef1129,938,262 - 130,013,934 (-)ENTREZGENE
CHM1_11159,976,850 - 160,052,530 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509916   ⟹   XP_011508218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,610,498 - 158,686,711 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509917   ⟹   XP_011508219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,610,498 - 158,686,642 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509918   ⟹   XP_011508220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,620,384 - 158,686,642 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509919   ⟹   XP_011508221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,635,948 - 158,686,643 (-)NCBI
Sequence:
RefSeq Acc Id: XR_921911
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,623,106 - 158,686,643 (-)NCBI
Sequence:
RefSeq Acc Id: XR_921912
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,639,642 - 158,686,645 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003117   ⟸   NM_003126
- UniProtKB: P02549 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508218   ⟸   XM_011509916
- Peptide Label: isoform X1
- UniProtKB: P02549 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508219   ⟸   XM_011509917
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011508220   ⟸   XM_011509918
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011508221   ⟸   XM_011509919
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000495214   ⟸   ENST00000643759
Protein Domains
EF-hand   EFhand_Ca_insen   SH3

Promoters
RGD ID:6786931
Promoter ID:HG_KWN:5660
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000368147,   OTTHUMT00000051851,   OTTHUMT00000089863
Position:
Human AssemblyChrPosition (strand)Source
Build 361156,922,781 - 156,923,281 (-)MPROMDB
RGD ID:6857694
Promoter ID:EPDNEW_H2012
Type:initiation region
Name:SPTA1_1
Description:spectrin alpha, erythrocytic 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
GRCh381158,686,715 - 158,686,775EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) duplication Elliptocytosis 2 [RCV000013700]|Hereditary pyropoikilocytosis [RCV001336016]|not provided [RCV000598724] Chr1:158681595..158681596 [GRCh38]
Chr1:158651385..158651386 [GRCh37]
Chr1:1q23.1
pathogenic|likely pathogenic
NM_003126.4(SPTA1):c.2465-1G>A single nucleotide variant Elliptocytosis 2 [RCV000013718] Chr1:158661410 [GRCh38]
Chr1:158631200 [GRCh37]
Chr1:1q23.1
pathogenic
SPTA1, EX5DEL, SVA RETROTRANSPOSON INS indel Elliptocytosis 2 [RCV000013719]|Pyropoikilocytosis [RCV000013720] Chr1:1q21 pathogenic
NM_003126.4(SPTA1):c.2806-13T>G single nucleotide variant Hereditary pyropoikilocytosis [RCV000013721] Chr1:158656669 [GRCh38]
Chr1:158626459 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.2(SPTA1):c.5190_5310del single nucleotide variant Spherocytosis type 3 [RCV000013723] Chr1:158636763 [GRCh38]
Chr1:158606553 [GRCh37]
Chr1:1q23.1
pathogenic
SPTA1, IVS30, C-T, -99 single nucleotide variant Spherocytosis type 3 [RCV000013724] Chr1:1q21 pathogenic
NM_003126.4(SPTA1):c.3188+5G>A single nucleotide variant Hereditary pyropoikilocytosis [RCV000013725] Chr1:158653269 [GRCh38]
Chr1:158623059 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) single nucleotide variant Elliptocytosis 2 [RCV000355023]|Hereditary pyropoikilocytosis [RCV000304881]|Spherocytosis type 3 [RCV000398747]|not provided [RCV001248301] Chr1:158612883 [GRCh38]
Chr1:158582673 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) single nucleotide variant Elliptocytosis 2 [RCV000403455]|Hereditary pyropoikilocytosis [RCV000339803]|Spherocytosis type 3 [RCV000304977]|not specified [RCV001000669] Chr1:158669714 [GRCh38]
Chr1:158639504 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) single nucleotide variant Elliptocytosis 2 [RCV000305304]|Hereditary pyropoikilocytosis [RCV000340319]|Spherocytosis type 3 [RCV000403808]|none provided [RCV001286949]|not provided [RCV000955801] Chr1:158662748 [GRCh38]
Chr1:158632538 [GRCh37]
Chr1:1q23.1
benign|likely benign
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) single nucleotide variant Elliptocytosis 2 [RCV000013697]|not provided [RCV000413397] Chr1:158678434 [GRCh38]
Chr1:158648224 [GRCh37]
Chr1:1q23.1
pathogenic|likely pathogenic
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) single nucleotide variant Elliptocytosis 2 [RCV000013698] Chr1:158672135 [GRCh38]
Chr1:158641925 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) single nucleotide variant Hereditary pyropoikilocytosis [RCV000986444]|Spherocytosis type 3 [RCV000315888]|Spherocytosis, type 3, autosomal recessive [RCV000013699]|none provided [RCV001283032]|not specified [RCV000251633] Chr1:158654738 [GRCh38]
Chr1:158624528 [GRCh37]
Chr1:1q23.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) single nucleotide variant Elliptocytosis 2 [RCV000013701] Chr1:158678432 [GRCh38]
Chr1:158648222 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) single nucleotide variant Elliptocytosis 2 [RCV000013703]|Hereditary pyropoikilocytosis [RCV000013702] Chr1:158685237 [GRCh38]
Chr1:158655027 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) single nucleotide variant Elliptocytosis 2 [RCV000013704] Chr1:158685235 [GRCh38]
Chr1:158655025 [GRCh37]
Chr1:1q23.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) single nucleotide variant Elliptocytosis 2 [RCV000013705]|Elliptocytosis 2 [RCV001004905] Chr1:158685227 [GRCh38]
Chr1:158655017 [GRCh37]
Chr1:1q23.1
pathogenic|uncertain significance
NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) single nucleotide variant Elliptocytosis 2 [RCV000013706] Chr1:158685251 [GRCh38]
Chr1:158655041 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) single nucleotide variant Elliptocytosis 2 [RCV000013707]|not specified [RCV000756697] Chr1:158685289 [GRCh38]
Chr1:158655079 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) single nucleotide variant Elliptocytosis 2 [RCV000013708]|Hereditary pyropoikilocytosis [RCV000013709] Chr1:158685290 [GRCh38]
Chr1:158655080 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) single nucleotide variant Elliptocytosis 2 [RCV000013710]|Hereditary pyropoikilocytosis [RCV000013711] Chr1:158685290 [GRCh38]
Chr1:158655080 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) single nucleotide variant Elliptocytosis 2 [RCV000013712]|Hereditary pyropoikilocytosis [RCV000013713]|Prenatal anemia [RCV000787368]|none provided [RCV000506353]|not provided [RCV000360212] Chr1:158685289 [GRCh38]
Chr1:158655079 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) single nucleotide variant Elliptocytosis 2 [RCV000013715]|Hereditary pyropoikilocytosis [RCV000013714]|none provided [RCV001289780] Chr1:158680641 [GRCh38]
Chr1:158650431 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) single nucleotide variant Hereditary pyropoikilocytosis [RCV000013716]|none provided [RCV001002600] Chr1:158685229 [GRCh38]
Chr1:158655019 [GRCh37]
Chr1:1q23.1
pathogenic|uncertain significance
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) single nucleotide variant Elliptocytosis 2 [RCV000013717]|Hereditary pyropoikilocytosis [RCV000345657]|Spherocytosis type 3 [RCV000404574]|none provided [RCV000756688] Chr1:158662793 [GRCh38]
Chr1:158632583 [GRCh37]
Chr1:1q23.1
pathogenic|benign|likely benign
NM_003126.2(SPTA1):c.6454C>A (p.Gln2152Lys) single nucleotide variant Lung cancer [RCV000089811] Chr1:158619298 [GRCh38]
Chr1:158589088 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.2(SPTA1):c.5432+605G>T single nucleotide variant Lung cancer [RCV000089812] Chr1:158635308 [GRCh38]
Chr1:158605098 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.2(SPTA1):c.4442+59G>C single nucleotide variant Lung cancer [RCV000089813] Chr1:158643263 [GRCh38]
Chr1:158613053 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.2(SPTA1):c.2588-161T>A single nucleotide variant Lung cancer [RCV000089814] Chr1:158657855 [GRCh38]
Chr1:158627645 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.2(SPTA1):c.2220+1379T>A single nucleotide variant Lung cancer [RCV000089815] Chr1:158664937 [GRCh38]
Chr1:158634727 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.2(SPTA1):c.531+116G>T single nucleotide variant Lung cancer [RCV000089816] Chr1:158681411 [GRCh38]
Chr1:158651201 [GRCh37]
Chr1:1q23.1
uncertain significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3
pathogenic
NM_003126.2(SPTA1):c.2703C>T (p.Phe901=) single nucleotide variant Malignant melanoma [RCV000059939] Chr1:158657579 [GRCh38]
Chr1:158627369 [GRCh37]
Chr1:156893993 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.2(SPTA1):c.2648C>T (p.Ser883Phe) single nucleotide variant Malignant melanoma [RCV000059940] Chr1:158657634 [GRCh38]
Chr1:158627424 [GRCh37]
Chr1:156894048 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.2(SPTA1):c.7090C>T (p.Leu2364=) single nucleotide variant Malignant melanoma [RCV000064231] Chr1:158612861 [GRCh38]
Chr1:158582651 [GRCh37]
Chr1:156849275 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.2(SPTA1):c.2728G>A (p.Glu910Lys) single nucleotide variant Malignant melanoma [RCV000064232] Chr1:158657554 [GRCh38]
Chr1:158627344 [GRCh37]
Chr1:156893968 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.2(SPTA1):c.1618A>G (p.Thr540Ala) single nucleotide variant Malignant melanoma [RCV000064233] Chr1:158669768 [GRCh38]
Chr1:158639558 [GRCh37]
Chr1:156906182 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.2(SPTA1):c.807C>T (p.Phe269=) single nucleotide variant Malignant melanoma [RCV000064234] Chr1:158678406 [GRCh38]
Chr1:158648196 [GRCh37]
Chr1:156914820 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.2(SPTA1):c.792A>T (p.Ala264=) single nucleotide variant Malignant melanoma [RCV000064235] Chr1:158678421 [GRCh38]
Chr1:158648211 [GRCh37]
Chr1:156914835 [NCBI36]
Chr1:1q23.1
not provided
NM_001004478.1(OR10Z1):c.231C>T (p.Ile77=) single nucleotide variant Malignant melanoma [RCV000059938] Chr1:158606669 [GRCh38]
Chr1:158576459 [GRCh37]
Chr1:156843083 [NCBI36]
Chr1:1q23.1
not provided
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) single nucleotide variant Spherocytosis type 3 [RCV000660418]|none provided [RCV001286489] Chr1:158683388 [GRCh38]
Chr1:158653178 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg) single nucleotide variant none provided [RCV001286714] Chr1:158676200 [GRCh38]
Chr1:158645990 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) single nucleotide variant none provided [RCV001285030] Chr1:158674664 [GRCh38]
Chr1:158644454 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.6788+11C>T single nucleotide variant Hereditary spherocytosis [RCV001290767] Chr1:158615205 [GRCh38]
Chr1:158584995 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg) single nucleotide variant none provided [RCV001287373] Chr1:158647635 [GRCh38]
Chr1:158617425 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.3257del (p.Leu1086fs) deletion none provided [RCV001286683] Chr1:158652585 [GRCh38]
Chr1:158622375 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) single nucleotide variant Elliptocytosis 2 [RCV001332228] Chr1:158653299 [GRCh38]
Chr1:158623089 [GRCh37]
Chr1:1q23.1
pathogenic
NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu) single nucleotide variant Elliptocytosis 2 [RCV001332231] Chr1:158620211 [GRCh38]
Chr1:158590001 [GRCh37]
Chr1:1q23.1
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_003126.4(SPTA1):c.*68C>G single nucleotide variant Elliptocytosis 2 [RCV000331748]|Hereditary pyropoikilocytosis [RCV000262559]|Spherocytosis type 3 [RCV000375773] Chr1:158611196 [GRCh38]
Chr1:158580986 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.*323T>C single nucleotide variant Elliptocytosis 2 [RCV000353849]|Hereditary pyropoikilocytosis [RCV000301383]|Spherocytosis type 3 [RCV000262480] Chr1:158610941 [GRCh38]
Chr1:158580731 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.1834-14del deletion Elliptocytosis [RCV000393570]|Hereditary pyropoikilocytosis [RCV000352036]|Spherocytosis, Recessive [RCV000292434] Chr1:158668076 [GRCh38]
Chr1:158637866 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) single nucleotide variant Elliptocytosis 2 [RCV000389358]|Hereditary pyropoikilocytosis [RCV000350472]|Spherocytosis type 3 [RCV000293245]|none provided [RCV001001693] Chr1:158651446 [GRCh38]
Chr1:158621236 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) single nucleotide variant Elliptocytosis 2 [RCV000395419]|Hereditary pyropoikilocytosis [RCV000302703]|Spherocytosis type 3 [RCV000348129]|not specified [RCV001001720] Chr1:158635967 [GRCh38]
Chr1:158605757 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.5834-15G>A single nucleotide variant Elliptocytosis 2 [RCV000402300]|Hereditary pyropoikilocytosis [RCV000302956]|Spherocytosis type 3 [RCV000365233] Chr1:158626237 [GRCh38]
Chr1:158596027 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys) single nucleotide variant Elliptocytosis 2 [RCV000293726]|Hereditary pyropoikilocytosis [RCV000375346]|Spherocytosis type 3 [RCV000318294] Chr1:158653296 [GRCh38]
Chr1:158623086 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) single nucleotide variant Elliptocytosis 2 [RCV000293657]|Hereditary pyropoikilocytosis [RCV000336888]|Spherocytosis type 3 [RCV000405400]|not provided [RCV000955800] Chr1:158661354 [GRCh38]
Chr1:158631144 [GRCh37]
Chr1:1q23.1
benign|likely benign
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) single nucleotide variant Elliptocytosis 2 [RCV000332397]|Hereditary pyropoikilocytosis [RCV000293760]|Spherocytosis type 3 [RCV000385371] Chr1:158626894 [GRCh38]
Chr1:158596684 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) single nucleotide variant Elliptocytosis 2 [RCV000402406]|Hereditary pyropoikilocytosis [RCV000338302]|Spherocytosis type 3 [RCV000296895]|none provided [RCV001001806]|not provided [RCV000903571] Chr1:158613860 [GRCh38]
Chr1:158583650 [GRCh37]
Chr1:1q23.1
benign|likely benign|uncertain significance
NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=) single nucleotide variant Elliptocytosis 2 [RCV000296971]|Hereditary pyropoikilocytosis [RCV000354054]|Spherocytosis type 3 [RCV000398897] Chr1:158620197 [GRCh38]
Chr1:158589987 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) single nucleotide variant Elliptocytosis 2 [RCV000335869]|Hereditary pyropoikilocytosis [RCV000399026]|Spherocytosis type 3 [RCV000297257] Chr1:158661368 [GRCh38]
Chr1:158631158 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.345G>A (p.Arg115=) single nucleotide variant Elliptocytosis 2 [RCV000404912]|Hereditary pyropoikilocytosis [RCV000297482]|Spherocytosis type 3 [RCV000354624] Chr1:158683416 [GRCh38]
Chr1:158653206 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) single nucleotide variant Elliptocytosis 2 [RCV000349158]|Hereditary pyropoikilocytosis [RCV000405093]|Spherocytosis type 3 [RCV000294265]|not provided [RCV000658527] Chr1:158685318 [GRCh38]
Chr1:158655108 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met) single nucleotide variant Elliptocytosis 2 [RCV000330597]|Hereditary pyropoikilocytosis [RCV000294322]|Spherocytosis type 3 [RCV000375812] Chr1:158643346 [GRCh38]
Chr1:158613136 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.5433-13C>A single nucleotide variant Elliptocytosis 2 [RCV000385394]|Hereditary pyropoikilocytosis [RCV000330756]|Spherocytosis type 3 [RCV000294512] Chr1:158634688 [GRCh38]
Chr1:158604478 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) single nucleotide variant Elliptocytosis 2 [RCV000389064]|Hereditary pyropoikilocytosis [RCV000294742]|Spherocytosis type 3 [RCV000349617]|not provided [RCV000917707] Chr1:158642454 [GRCh38]
Chr1:158612244 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) single nucleotide variant Elliptocytosis 2 [RCV000361908]|Hereditary pyropoikilocytosis [RCV000297861]|Spherocytosis type 3 [RCV000397160] Chr1:158642855 [GRCh38]
Chr1:158612645 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.5566-10A>G single nucleotide variant Elliptocytosis 2 [RCV000399669]|Hereditary pyropoikilocytosis [RCV000355930]|Spherocytosis type 3 [RCV000298769] Chr1:158627733 [GRCh38]
Chr1:158597523 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.1834-16_1834-14del deletion Elliptocytosis [RCV000299198]|Hereditary pyropoikilocytosis [RCV000340126]|Spherocytosis, Recessive [RCV000390595] Chr1:158668076..158668078 [GRCh38]
Chr1:158637866..158637868 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) single nucleotide variant Elliptocytosis 2 [RCV000356499]|Hereditary pyropoikilocytosis [RCV000403433]|Spherocytosis type 3 [RCV000299284] Chr1:158674370 [GRCh38]
Chr1:158644160 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.3189-10C>T single nucleotide variant Elliptocytosis 2 [RCV000397288]|Hereditary pyropoikilocytosis [RCV000304882]|Spherocytosis type 3 [RCV000361144] Chr1:158652663 [GRCh38]
Chr1:158622453 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.6120+11del deletion Elliptocytosis [RCV000395661]|Hereditary pyropoikilocytosis [RCV000338625]|Spherocytosis, Recessive [RCV000300015] Chr1:158622972 [GRCh38]
Chr1:158592762 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) single nucleotide variant Elliptocytosis 2 [RCV000300232]|Hereditary pyropoikilocytosis [RCV000357484]|Spherocytosis type 3 [RCV000393171] Chr1:158657610 [GRCh38]
Chr1:158627400 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.3292A>C (p.Ile1098Leu) single nucleotide variant Elliptocytosis 2 [RCV000403843]|Hereditary pyropoikilocytosis [RCV000335285]|Spherocytosis type 3 [RCV000301313] Chr1:158652550 [GRCh38]
Chr1:158622340 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) single nucleotide variant Elliptocytosis 2 [RCV000283192]|Hereditary pyropoikilocytosis [RCV000324353]|Spherocytosis type 3 [RCV000378980] Chr1:158647606 [GRCh38]
Chr1:158617396 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) single nucleotide variant Elliptocytosis 2 [RCV000378935]|Hereditary pyropoikilocytosis [RCV000283382]|Spherocytosis type 3 [RCV000340796]|not provided [RCV000891444] Chr1:158620455 [GRCh38]
Chr1:158590245 [GRCh37]
Chr1:1q23.1
benign|likely benign|uncertain significance
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) single nucleotide variant Elliptocytosis 2 [RCV000283271]|Hereditary pyropoikilocytosis [RCV000404635]|Spherocytosis type 3 [RCV000340574]|not provided [RCV000756701] Chr1:158653313 [GRCh38]
Chr1:158623103 [GRCh37]
Chr1:1q23.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003126.4(SPTA1):c.679-5A>C single nucleotide variant Elliptocytosis 2 [RCV000260955]|Hereditary pyropoikilocytosis [RCV000318369]|Spherocytosis type 3 [RCV000353463] Chr1:158678539 [GRCh38]
Chr1:158648329 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.2484C>T (p.Ser828=) single nucleotide variant Elliptocytosis 2 [RCV000272716]|Hereditary pyropoikilocytosis [RCV000307982]|Spherocytosis type 3 [RCV000362571] Chr1:158661390 [GRCh38]
Chr1:158631180 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) single nucleotide variant Elliptocytosis 2 [RCV000273376]|Hereditary pyropoikilocytosis [RCV000328361]|Spherocytosis type 3 [RCV000365672]|not provided [RCV000955255] Chr1:158677794 [GRCh38]
Chr1:158647584 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=) single nucleotide variant Elliptocytosis 2 [RCV000370625]|Hereditary pyropoikilocytosis [RCV000313651]|Spherocytosis type 3 [RCV000273527] Chr1:158653390 [GRCh38]
Chr1:158623180 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) single nucleotide variant Elliptocytosis 2 [RCV000387627]|Hereditary pyropoikilocytosis [RCV000292120]|Spherocytosis type 3 [RCV000330784] Chr1:158685198 [GRCh38]
Chr1:158654988 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) single nucleotide variant Elliptocytosis 2 [RCV000261580]|Hereditary pyropoikilocytosis [RCV000354150]|Spherocytosis type 3 [RCV000319189] Chr1:158626886 [GRCh38]
Chr1:158596676 [GRCh37]
Chr1:1q23.1
likely benign|uncertain significance
NM_003126.4(SPTA1):c.6549-4C>G single nucleotide variant Elliptocytosis 2 [RCV000318967]|Hereditary pyropoikilocytosis [RCV000261474]|Spherocytosis type 3 [RCV000353819] Chr1:158617592 [GRCh38]
Chr1:158587382 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) single nucleotide variant Elliptocytosis 2 [RCV000327576]|Hereditary pyropoikilocytosis [RCV000273733]|Spherocytosis type 3 [RCV000386741]|none provided [RCV001001518]|not provided [RCV000964375] Chr1:158661402 [GRCh38]
Chr1:158631192 [GRCh37]
Chr1:1q23.1
benign|likely benign
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) single nucleotide variant Elliptocytosis 2 [RCV000261654]|Hereditary pyropoikilocytosis [RCV000300884]|Spherocytosis type 3 [RCV000367197] Chr1:158620209 [GRCh38]
Chr1:158589999 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu) single nucleotide variant Elliptocytosis 2 [RCV000357101]|Hereditary pyropoikilocytosis [RCV000262000]|Spherocytosis type 3 [RCV000320939] Chr1:158686508 [GRCh38]
Chr1:158656298 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=) single nucleotide variant Elliptocytosis 2 [RCV000358555]|Hereditary pyropoikilocytosis [RCV000301081]|Spherocytosis type 3 [RCV000262252] Chr1:158685129 [GRCh38]
Chr1:158654919 [GRCh37]
Chr1:1q23.1
uncertain significance