Canonical Allele Identifier: CA646235467

Gene: SPTA1

Linked Data

• COSMIC: COSN24396745

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613018T>C , CM000663.2:g.158613018T>C	GRCh38
NC_000001.10:g.158582808T>C , CM000663.1:g.158582808T>C	GRCh37
NC_000001.9:g.156849432T>C	NCBI36
NG_011474.1:g.78699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-57A>G MANE Select	ENSP00000495214.1:n.6990-57A>G
ENST00000368147.8:c.6990-57A>G	ENSP00000357129.4:n.6990-57A>G
ENST00000481212.5:n.431-57A>G
ENST00000498708.1:n.422-57A>G
ENST00000614909.4:c.6990-57A>G	ENSP00000482595.1:n.6990-57A>G
NM_003126.2:c.6990-57A>G	NP_003117.2:n.6990-57A>G
XM_011509916.1:c.6990-57A>G	XP_011508218.1:n.6990-57A>G
XM_011509917.1:c.6972-57A>G	XP_011508219.1:n.6972-57A>G
NM_003126.3:c.6990-57A>G	NP_003117.2:n.6990-57A>G
XM_011509916.2:c.6990-57A>G	XP_011508218.1:n.6990-57A>G
XM_011509917.3:c.6972-57A>G	XP_011508219.1:n.6972-57A>G
NM_003126.4:c.6990-57A>G MANE Select	NP_003117.2:n.6990-57A>G