Canonical Allele Identifier: CA343011106

Gene: SPTA1

Linked Data

• dbSNP Id: rs1183548010
• gnomAD v2: 1-158582620-T-G
• gnomAD v4: 1-158612830-T-G
• MyVariant Identifiers: chr1:g.158582620T>G (hg19) ; chr1:g.158612830T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612830T>G , CM000663.2:g.158612830T>G	GRCh38
NC_000001.10:g.158582620T>G , CM000663.1:g.158582620T>G	GRCh37
NC_000001.9:g.156849244T>G	NCBI36
NG_011474.1:g.78887A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.7121A>C MANE Select	ENSP00000495214.1:p.Glu2374Ala
ENST00000368147.8:c.7121A>C	ENSP00000357129.4:p.Glu2374Ala
ENST00000481212.5:n.562A>C
ENST00000498708.1:n.553A>C
ENST00000614909.4:c.7121A>C	ENSP00000482595.1:p.Glu2374Ala
NM_003126.2:c.7121A>C	NP_003117.2:p.Glu2374Ala
XM_011509916.1:c.7121A>C	XP_011508218.1:p.Glu2374Ala
XM_011509917.1:c.7103A>C	XP_011508219.1:p.Glu2368Ala
NM_003126.3:c.7121A>C	NP_003117.2:p.Glu2374Ala
XM_011509916.2:c.7121A>C	XP_011508218.1:p.Glu2374Ala
XM_011509917.3:c.7103A>C	XP_011508219.1:p.Glu2368Ala
NM_003126.4:c.7121A>C MANE Select	NP_003117.2:p.Glu2374Ala