Canonical Allele Identifier: CA343011073

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158582612T>G (hg19) ; chr1:g.158612822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612822T>G , CM000663.2:g.158612822T>G	GRCh38
NC_000001.10:g.158582612T>G , CM000663.1:g.158582612T>G	GRCh37
NC_000001.9:g.156849236T>G	NCBI36
NG_011474.1:g.78895A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.7129A>C MANE Select	ENSP00000495214.1:p.Lys2377Gln
ENST00000368147.8:c.7129A>C	ENSP00000357129.4:p.Lys2377Gln
ENST00000481212.5:n.570A>C
ENST00000498708.1:n.561A>C
ENST00000614909.4:c.7129A>C	ENSP00000482595.1:p.Lys2377Gln
NM_003126.2:c.7129A>C	NP_003117.2:p.Lys2377Gln
XM_011509916.1:c.7129A>C	XP_011508218.1:p.Lys2377Gln
XM_011509917.1:c.7111A>C	XP_011508219.1:p.Lys2371Gln
NM_003126.3:c.7129A>C	NP_003117.2:p.Lys2377Gln
XM_011509916.2:c.7129A>C	XP_011508218.1:p.Lys2377Gln
XM_011509917.3:c.7111A>C	XP_011508219.1:p.Lys2371Gln
NM_003126.4:c.7129A>C MANE Select	NP_003117.2:p.Lys2377Gln