Canonical Allele Identifier: CA343026716

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158655019T>A (hg19) ; chr1:g.158685229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685229T>A , CM000663.2:g.158685229T>A	GRCh38
NC_000001.10:g.158655019T>A , CM000663.1:g.158655019T>A	GRCh37
NC_000001.9:g.156921643T>A	NCBI36
NG_011474.1:g.6488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.143A>T MANE Select	ENSP00000495214.1:p.Lys48Met
ENST00000368147.8:c.143A>T	ENSP00000357129.4:p.Lys48Met
ENST00000467387.1:c.132+11A>T	ENSP00000476485.1:n.132+11A>T
ENST00000614909.4:c.143A>T	ENSP00000482595.1:p.Lys48Met
NM_003126.2:c.143A>T	NP_003117.2:p.Lys48Met
XM_011509916.1:c.143A>T	XP_011508218.1:p.Lys48Met
XM_011509917.1:c.143A>T	XP_011508219.1:p.Lys48Met
XM_011509918.1:c.143A>T	XP_011508220.1:p.Lys48Met
XM_011509919.1:c.143A>T	XP_011508221.1:p.Lys48Met
XR_921911.1:n.256A>T
XR_921912.1:n.261A>T
NM_003126.3:c.143A>T	NP_003117.2:p.Lys48Met
XM_011509916.2:c.143A>T	XP_011508218.1:p.Lys48Met
XM_011509917.3:c.143A>T	XP_011508219.1:p.Lys48Met
XM_011509918.3:c.143A>T	XP_011508220.1:p.Lys48Met
XM_011509919.3:c.143A>T	XP_011508221.1:p.Lys48Met
XR_921911.3:n.269A>T
XR_921912.2:n.271A>T
NM_003126.4:c.143A>T MANE Select	NP_003117.2:p.Lys48Met