Canonical Allele Identifier: CA421300741

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158680604-T-C
• MyVariant Identifiers: chr1:g.158650394T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158680604T>C , CM000663.2:g.158680604T>C	GRCh38
NC_000001.10:g.158650394T>C , CM000663.1:g.158650394T>C	GRCh37
NC_000001.9:g.156917018T>C	NCBI36
NG_011474.1:g.11113A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.657A>G MANE Select	ENSP00000495214.1:p.Gln219=
ENST00000368147.8:c.657A>G	ENSP00000357129.4:p.Gln219=
ENST00000467387.1:c.133-2070A>G	ENSP00000476485.1:n.133-2070A>G
ENST00000614909.4:c.657A>G	ENSP00000482595.1:p.Gln219=
NM_003126.2:c.657A>G	NP_003117.2:p.Gln219=
XM_011509916.1:c.657A>G	XP_011508218.1:p.Gln219=
XM_011509917.1:c.657A>G	XP_011508219.1:p.Gln219=
XM_011509918.1:c.657A>G	XP_011508220.1:p.Gln219=
XM_011509919.1:c.657A>G	XP_011508221.1:p.Gln219=
XR_921911.1:n.770A>G
XR_921912.1:n.775A>G
NM_003126.3:c.657A>G	NP_003117.2:p.Gln219=
XM_011509916.2:c.657A>G	XP_011508218.1:p.Gln219=
XM_011509917.3:c.657A>G	XP_011508219.1:p.Gln219=
XM_011509918.3:c.657A>G	XP_011508220.1:p.Gln219=
XM_011509919.3:c.657A>G	XP_011508221.1:p.Gln219=
XR_921911.3:n.783A>G
XR_921912.2:n.785A>G
NM_003126.4:c.657A>G MANE Select	NP_003117.2:p.Gln219=