Canonical Allele Identifier: CA1182595
Gene: SPTA1 HGNC NCBI
COSMIC:
COSM5003622 (not active)
MyVariant.info:
GRCh38 chr1:g.158642446A>G
GRCh37 chr1:g.158612236A>G
Revel Score:
ENST00000368148 0.049
ENST00000368147 0.049
gnomAD v2:
1:158612236 A / G
gnomAD v3:
1:158642446 A / G
gnomAD v4:
chr1-158642446-A-G
Joint Max Group AF 0.66551826 (AFR)
Genomes Max Group AF 0.65910629 (AFR)
Exomes Max Group AF 0.66893525 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158642446A>G , CM000663.2:g.158642446A>G GRCh38
NC_000001.10:g.158612236A>G , CM000663.1:g.158612236A>G GRCh37
NC_000001.9:g.156878860A>G NCBI36
NG_011474.1:g.49271T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.4702T>C MANE Select ENSP00000495214.1:p.Cys1568Arg
ENST00000368147.8:c.4702T>C ENSP00000357129.4:p.Cys1568Arg
ENST00000465741.1:n.87T>C
ENST00000614909.4:c.4702T>C ENSP00000482595.1:p.Cys1568Arg
NM_003126.2:c.4702T>C NP_003117.2:p.Cys1568Arg
XM_011509916.1:c.4702T>C XP_011508218.1:p.Cys1568Arg
XM_011509917.1:c.4702T>C XP_011508219.1:p.Cys1568Arg
XM_011509918.1:c.4702T>C XP_011508220.1:p.Cys1568Arg
XM_011509919.1:c.4702T>C XP_011508221.1:p.Cys1568Arg
XR_921911.1:n.4815T>C
XR_921912.1:n.4890T>C
NM_003126.3:c.4702T>C NP_003117.2:p.Cys1568Arg
XM_011509916.2:c.4702T>C XP_011508218.1:p.Cys1568Arg
XM_011509917.3:c.4702T>C XP_011508219.1:p.Cys1568Arg
XM_011509918.3:c.4702T>C XP_011508220.1:p.Cys1568Arg
XM_011509919.3:c.4702T>C XP_011508221.1:p.Cys1568Arg
XR_921911.3:n.4828T>C
XR_921912.2:n.4900T>C
NM_003126.4:c.4702T>C MANE Select NP_003117.2:p.Cys1568Arg
Search 100 bp 5'
Search 100 bp 3'