Canonical Allele Identifier: CA343036051

Gene: SPTA1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158649938A>G , CM000663.2:g.158649938A>G	GRCh38
NC_000001.10:g.158619728A>G , CM000663.1:g.158619728A>G	GRCh37
NC_000001.9:g.156886352A>G	NCBI36
NG_011474.1:g.41779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3487T>C MANE Select	ENSP00000495214.1:p.Ser1163Pro
ENST00000368147.8:c.3487T>C	ENSP00000357129.4:p.Ser1163Pro
ENST00000614909.4:c.3487T>C	ENSP00000482595.1:p.Ser1163Pro
NM_003126.2:c.3487T>C	NP_003117.2:p.Ser1163Pro
XM_011509916.1:c.3487T>C	XP_011508218.1:p.Ser1163Pro
XM_011509917.1:c.3487T>C	XP_011508219.1:p.Ser1163Pro
XM_011509918.1:c.3487T>C	XP_011508220.1:p.Ser1163Pro
XM_011509919.1:c.3487T>C	XP_011508221.1:p.Ser1163Pro
XR_921911.1:n.3600T>C
XR_921912.1:n.3605T>C
NM_003126.3:c.3487T>C	NP_003117.2:p.Ser1163Pro
XM_011509916.2:c.3487T>C	XP_011508218.1:p.Ser1163Pro
XM_011509917.3:c.3487T>C	XP_011508219.1:p.Ser1163Pro
XM_011509918.3:c.3487T>C	XP_011508220.1:p.Ser1163Pro
XM_011509919.3:c.3487T>C	XP_011508221.1:p.Ser1163Pro
XR_921911.3:n.3613T>C
XR_921912.2:n.3615T>C
NM_003126.4:c.3487T>C MANE Select	NP_003117.2:p.Ser1163Pro