Canonical Allele Identifier: CA889967228

Gene: SPTA1

Linked Data

• dbSNP Id: rs1464089061
• gnomAD v3: 1-158685432-A-G
• gnomAD v4: 1-158685432-A-G
• MyVariant Identifiers: chr1:g.158655222A>G (hg19) ; chr1:g.158685432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685432A>G , CM000663.2:g.158685432A>G	GRCh38
NC_000001.10:g.158655222A>G , CM000663.1:g.158655222A>G	GRCh37
NC_000001.9:g.156921846A>G	NCBI36
NG_011474.1:g.6285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.25-85T>C MANE Select	ENSP00000495214.1:n.25-85T>C
ENST00000368147.8:c.25-85T>C	ENSP00000357129.4:n.25-85T>C
ENST00000467387.1:c.25-85T>C	ENSP00000476485.1:n.25-85T>C
ENST00000614909.4:c.25-85T>C	ENSP00000482595.1:n.25-85T>C
NM_003126.2:c.25-85T>C	NP_003117.2:n.25-85T>C
XM_011509916.1:c.25-85T>C	XP_011508218.1:n.25-85T>C
XM_011509917.1:c.25-85T>C	XP_011508219.1:n.25-85T>C
XM_011509918.1:c.25-85T>C	XP_011508220.1:n.25-85T>C
XM_011509919.1:c.25-85T>C	XP_011508221.1:n.25-85T>C
XR_921911.1:n.138-85T>C
XR_921912.1:n.143-85T>C
NM_003126.3:c.25-85T>C	NP_003117.2:n.25-85T>C
XM_011509916.2:c.25-85T>C	XP_011508218.1:n.25-85T>C
XM_011509917.3:c.25-85T>C	XP_011508219.1:n.25-85T>C
XM_011509918.3:c.25-85T>C	XP_011508220.1:n.25-85T>C
XM_011509919.3:c.25-85T>C	XP_011508221.1:n.25-85T>C
XR_921911.3:n.151-85T>C
XR_921912.2:n.153-85T>C
NM_003126.4:c.25-85T>C MANE Select	NP_003117.2:n.25-85T>C