Canonical Allele Identifier: CA343026842

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158655081C>G (hg19) ; chr1:g.158685291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685291C>G , CM000663.2:g.158685291C>G	GRCh38
NC_000001.10:g.158655081C>G , CM000663.1:g.158655081C>G	GRCh37
NC_000001.9:g.156921705C>G	NCBI36
NG_011474.1:g.6426G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.81G>C MANE Select	ENSP00000495214.1:p.Arg27Ser
ENST00000368147.8:c.81G>C	ENSP00000357129.4:p.Arg27Ser
ENST00000467387.1:c.81G>C	ENSP00000476485.1:p.Arg27Ser
ENST00000614909.4:c.81G>C	ENSP00000482595.1:p.Arg27Ser
NM_003126.2:c.81G>C	NP_003117.2:p.Arg27Ser
XM_011509916.1:c.81G>C	XP_011508218.1:p.Arg27Ser
XM_011509917.1:c.81G>C	XP_011508219.1:p.Arg27Ser
XM_011509918.1:c.81G>C	XP_011508220.1:p.Arg27Ser
XM_011509919.1:c.81G>C	XP_011508221.1:p.Arg27Ser
XR_921911.1:n.194G>C
XR_921912.1:n.199G>C
NM_003126.3:c.81G>C	NP_003117.2:p.Arg27Ser
XM_011509916.2:c.81G>C	XP_011508218.1:p.Arg27Ser
XM_011509917.3:c.81G>C	XP_011508219.1:p.Arg27Ser
XM_011509918.3:c.81G>C	XP_011508220.1:p.Arg27Ser
XM_011509919.3:c.81G>C	XP_011508221.1:p.Arg27Ser
XR_921911.3:n.207G>C
XR_921912.2:n.209G>C
NM_003126.4:c.81G>C MANE Select	NP_003117.2:p.Arg27Ser