Canonical Allele Identifier: CA1182432
Gene: SPTA1 HGNC NCBI
ClinVar RCV:
RCV000249864
RCV000306625
RCV000345998
RCV000394217
RCV001812721
ClinVar Variation:
258943
COSMIC:
COSM5009589
dbSNP:
857725
gnomAD v2:
1:158607935 T / G
gnomAD v3:
1:158638145 T / G
gnomAD v4:
chr1-158638145-T-G
Joint Max Group AF 0.40814431 (EAS)
Genomes Max Group AF 0.43659085 (EAS)
Exomes Max Group AF 0.40283157 (EAS)
MyVariant.info:
GRCh38 chr1:g.158638145T>G
GRCh37 chr1:g.158607935T>G
Revel Score:
ENST00000368148 0.013
ENST00000368147 0.013
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158638145T>G , CM000663.2:g.158638145T>G GRCh38
NC_000001.10:g.158607935T>G , CM000663.1:g.158607935T>G GRCh37
NC_000001.9:g.156874559T>G NCBI36
NG_011474.1:g.53572A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.5077A>C MANE Select ENSP00000495214.1:p.Lys1693Gln
ENST00000368147.8:c.5077A>C ENSP00000357129.4:p.Lys1693Gln
ENST00000614909.4:c.5077A>C ENSP00000482595.1:p.Lys1693Gln
NM_003126.2:c.5077A>C NP_003117.2:p.Lys1693Gln
XM_011509916.1:c.5077A>C XP_011508218.1:p.Lys1693Gln
XM_011509917.1:c.5077A>C XP_011508219.1:p.Lys1693Gln
XM_011509918.1:c.5077A>C XP_011508220.1:p.Lys1693Gln
XM_011509919.1:c.4981-1384A>C XP_011508221.1:n.4981-1384A>C
XR_921911.1:n.5190A>C
NM_003126.3:c.5077A>C NP_003117.2:p.Lys1693Gln
XM_011509916.2:c.5077A>C XP_011508218.1:p.Lys1693Gln
XM_011509917.3:c.5077A>C XP_011508219.1:p.Lys1693Gln
XM_011509918.3:c.5077A>C XP_011508220.1:p.Lys1693Gln
XM_011509919.3:c.4981-1384A>C XP_011508221.1:n.4981-1384A>C
XR_921911.3:n.5203A>C
NM_003126.4:c.5077A>C MANE Select NP_003117.2:p.Lys1693Gln
Search 100 bp 5'
Search 100 bp 3'