Canonical Allele Identifier: CA1181757

Gene: SPTA1

Linked Data

• dbSNP Id: rs751500717
• ExAC: 1:158582786 C / T
• gnomAD v2: 1-158582786-C-T
• gnomAD v3: 1-158612996-C-T
• gnomAD v4: 1-158612996-C-T
• MyVariant Identifiers: chr1:g.158582786C>T (hg19) ; chr1:g.158612996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612996C>T , CM000663.2:g.158612996C>T	GRCh38
NC_000001.10:g.158582786C>T , CM000663.1:g.158582786C>T	GRCh37
NC_000001.9:g.156849410C>T	NCBI36
NG_011474.1:g.78721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-35G>A MANE Select	ENSP00000495214.1:n.6990-35G>A
ENST00000368147.8:c.6990-35G>A	ENSP00000357129.4:n.6990-35G>A
ENST00000481212.5:n.431-35G>A
ENST00000498708.1:n.422-35G>A
ENST00000614909.4:c.6990-35G>A	ENSP00000482595.1:n.6990-35G>A
NM_003126.2:c.6990-35G>A	NP_003117.2:n.6990-35G>A
XM_011509916.1:c.6990-35G>A	XP_011508218.1:n.6990-35G>A
XM_011509917.1:c.6972-35G>A	XP_011508219.1:n.6972-35G>A
NM_003126.3:c.6990-35G>A	NP_003117.2:n.6990-35G>A
XM_011509916.2:c.6990-35G>A	XP_011508218.1:n.6990-35G>A
XM_011509917.3:c.6972-35G>A	XP_011508219.1:n.6972-35G>A
NM_003126.4:c.6990-35G>A MANE Select	NP_003117.2:n.6990-35G>A