Canonical Allele Identifier: CA1184229

Gene: SPTA1

Linked Data

• dbSNP Id: rs575200288
• ExAC: 1:158654931 G / A
• gnomAD v2: 1-158654931-G-A
• gnomAD v3: 1-158685141-G-A
• gnomAD v4: 1-158685141-G-A
• MyVariant Identifiers: chr1:g.158654931G>A (hg19) ; chr1:g.158685141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685141G>A , CM000663.2:g.158685141G>A	GRCh38
NC_000001.10:g.158654931G>A , CM000663.1:g.158654931G>A	GRCh37
NC_000001.9:g.156921555G>A	NCBI36
NG_011474.1:g.6576C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.231C>T MANE Select	ENSP00000495214.1:p.Thr77=
ENST00000368147.8:c.231C>T	ENSP00000357129.4:p.Thr77=
ENST00000467387.1:c.132+99C>T	ENSP00000476485.1:n.132+99C>T
ENST00000614909.4:c.231C>T	ENSP00000482595.1:p.Thr77=
NM_003126.2:c.231C>T	NP_003117.2:p.Thr77=
XM_011509916.1:c.231C>T	XP_011508218.1:p.Thr77=
XM_011509917.1:c.231C>T	XP_011508219.1:p.Thr77=
XM_011509918.1:c.231C>T	XP_011508220.1:p.Thr77=
XM_011509919.1:c.231C>T	XP_011508221.1:p.Thr77=
XR_921911.1:n.344C>T
XR_921912.1:n.349C>T
NM_003126.3:c.231C>T	NP_003117.2:p.Thr77=
XM_011509916.2:c.231C>T	XP_011508218.1:p.Thr77=
XM_011509917.3:c.231C>T	XP_011508219.1:p.Thr77=
XM_011509918.3:c.231C>T	XP_011508220.1:p.Thr77=
XM_011509919.3:c.231C>T	XP_011508221.1:p.Thr77=
XR_921911.3:n.357C>T
XR_921912.2:n.359C>T
NM_003126.4:c.231C>T MANE Select	NP_003117.2:p.Thr77=