Canonical Allele Identifier: CA343026712

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158655016A>C (hg19) ; chr1:g.158685226A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685226A>C , CM000663.2:g.158685226A>C	GRCh38
NC_000001.10:g.158655016A>C , CM000663.1:g.158655016A>C	GRCh37
NC_000001.9:g.156921640A>C	NCBI36
NG_011474.1:g.6491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.146T>G MANE Select	ENSP00000495214.1:p.Leu49Arg
ENST00000368147.8:c.146T>G	ENSP00000357129.4:p.Leu49Arg
ENST00000467387.1:c.132+14T>G	ENSP00000476485.1:n.132+14T>G
ENST00000614909.4:c.146T>G	ENSP00000482595.1:p.Leu49Arg
NM_003126.2:c.146T>G	NP_003117.2:p.Leu49Arg
XM_011509916.1:c.146T>G	XP_011508218.1:p.Leu49Arg
XM_011509917.1:c.146T>G	XP_011508219.1:p.Leu49Arg
XM_011509918.1:c.146T>G	XP_011508220.1:p.Leu49Arg
XM_011509919.1:c.146T>G	XP_011508221.1:p.Leu49Arg
XR_921911.1:n.259T>G
XR_921912.1:n.264T>G
NM_003126.3:c.146T>G	NP_003117.2:p.Leu49Arg
XM_011509916.2:c.146T>G	XP_011508218.1:p.Leu49Arg
XM_011509917.3:c.146T>G	XP_011508219.1:p.Leu49Arg
XM_011509918.3:c.146T>G	XP_011508220.1:p.Leu49Arg
XM_011509919.3:c.146T>G	XP_011508221.1:p.Leu49Arg
XR_921911.3:n.272T>G
XR_921912.2:n.274T>G
NM_003126.4:c.146T>G MANE Select	NP_003117.2:p.Leu49Arg