Canonical Allele Identifier: CA1182596
Gene: SPTA1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.4702T>A MANE Select ENSP00000495214.1:p.Cys1568Ser
ENST00000368147.8:c.4702T>A ENSP00000357129.4:p.Cys1568Ser
ENST00000465741.1:n.87T>A
ENST00000614909.4:c.4702T>A ENSP00000482595.1:p.Cys1568Ser
NM_003126.2:c.4702T>A NP_003117.2:p.Cys1568Ser
XM_011509916.1:c.4702T>A XP_011508218.1:p.Cys1568Ser
XM_011509917.1:c.4702T>A XP_011508219.1:p.Cys1568Ser
XM_011509918.1:c.4702T>A XP_011508220.1:p.Cys1568Ser
XM_011509919.1:c.4702T>A XP_011508221.1:p.Cys1568Ser
XR_921911.1:n.4815T>A
XR_921912.1:n.4890T>A
NM_003126.3:c.4702T>A NP_003117.2:p.Cys1568Ser
XM_011509916.2:c.4702T>A XP_011508218.1:p.Cys1568Ser
XM_011509917.3:c.4702T>A XP_011508219.1:p.Cys1568Ser
XM_011509918.3:c.4702T>A XP_011508220.1:p.Cys1568Ser
XM_011509919.3:c.4702T>A XP_011508221.1:p.Cys1568Ser
XR_921911.3:n.4828T>A
XR_921912.2:n.4900T>A
NM_003126.4:c.4702T>A MANE Select NP_003117.2:p.Cys1568Ser