Canonical Allele Identifier: CA343011652

Gene: SPTA1

Linked Data

• dbSNP Id: rs1390703308
• gnomAD v2: 1-158582716-A-G
• gnomAD v4: 1-158612926-A-G
• MyVariant Identifiers: chr1:g.158582716A>G (hg19) ; chr1:g.158612926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612926A>G , CM000663.2:g.158612926A>G	GRCh38
NC_000001.10:g.158582716A>G , CM000663.1:g.158582716A>G	GRCh37
NC_000001.9:g.156849340A>G	NCBI36
NG_011474.1:g.78791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7025T>C MANE Select	ENSP00000495214.1:p.Phe2342Ser
ENST00000368147.8:c.7025T>C	ENSP00000357129.4:p.Phe2342Ser
ENST00000481212.5:n.466T>C
ENST00000498708.1:n.457T>C
ENST00000614909.4:c.7025T>C	ENSP00000482595.1:p.Phe2342Ser
NM_003126.2:c.7025T>C	NP_003117.2:p.Phe2342Ser
XM_011509916.1:c.7025T>C	XP_011508218.1:p.Phe2342Ser
XM_011509917.1:c.7007T>C	XP_011508219.1:p.Phe2336Ser
NM_003126.3:c.7025T>C	NP_003117.2:p.Phe2342Ser
XM_011509916.2:c.7025T>C	XP_011508218.1:p.Phe2342Ser
XM_011509917.3:c.7007T>C	XP_011508219.1:p.Phe2336Ser
NM_003126.4:c.7025T>C MANE Select	NP_003117.2:p.Phe2342Ser