Canonical Allele Identifier: CA421213078

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158582745G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612955G>C , CM000663.2:g.158612955G>C	GRCh38
NC_000001.10:g.158582745G>C , CM000663.1:g.158582745G>C	GRCh37
NC_000001.9:g.156849369G>C	NCBI36
NG_011474.1:g.78762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6996C>G MANE Select	ENSP00000495214.1:p.Gly2332=
ENST00000368147.8:c.6996C>G	ENSP00000357129.4:p.Gly2332=
ENST00000481212.5:n.437C>G
ENST00000498708.1:n.428C>G
ENST00000614909.4:c.6996C>G	ENSP00000482595.1:p.Gly2332=
NM_003126.2:c.6996C>G	NP_003117.2:p.Gly2332=
XM_011509916.1:c.6996C>G	XP_011508218.1:p.Gly2332=
XM_011509917.1:c.6978C>G	XP_011508219.1:p.Gly2326=
NM_003126.3:c.6996C>G	NP_003117.2:p.Gly2332=
XM_011509916.2:c.6996C>G	XP_011508218.1:p.Gly2332=
XM_011509917.3:c.6978C>G	XP_011508219.1:p.Gly2326=
NM_003126.4:c.6996C>G MANE Select	NP_003117.2:p.Gly2332=