Canonical Allele Identifier: CA421212639

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612886-A-G
• COSMIC: COSM1601040
• MyVariant Identifiers: chr1:g.158582676A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612886A>G , CM000663.2:g.158612886A>G	GRCh38
NC_000001.10:g.158582676A>G , CM000663.1:g.158582676A>G	GRCh37
NC_000001.9:g.156849300A>G	NCBI36
NG_011474.1:g.78831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7065T>C MANE Select	ENSP00000495214.1:p.Asp2355=
ENST00000368147.8:c.7065T>C	ENSP00000357129.4:p.Asp2355=
ENST00000481212.5:n.506T>C
ENST00000498708.1:n.497T>C
ENST00000614909.4:c.7065T>C	ENSP00000482595.1:p.Asp2355=
NM_003126.2:c.7065T>C	NP_003117.2:p.Asp2355=
XM_011509916.1:c.7065T>C	XP_011508218.1:p.Asp2355=
XM_011509917.1:c.7047T>C	XP_011508219.1:p.Asp2349=
NM_003126.3:c.7065T>C	NP_003117.2:p.Asp2355=
XM_011509916.2:c.7065T>C	XP_011508218.1:p.Asp2355=
XM_011509917.3:c.7047T>C	XP_011508219.1:p.Asp2349=
NM_003126.4:c.7065T>C MANE Select	NP_003117.2:p.Asp2355=