Canonical Allele Identifier: CA421212206

Gene: SPTA1

Linked Data

• dbSNP Id: rs1429748317
• gnomAD v3: 1-158612817-C-T
• gnomAD v4: 1-158612817-C-T
• MyVariant Identifiers: chr1:g.158582607C>T (hg19) ; chr1:g.158612817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612817C>T , CM000663.2:g.158612817C>T	GRCh38
NC_000001.10:g.158582607C>T , CM000663.1:g.158582607C>T	GRCh37
NC_000001.9:g.156849231C>T	NCBI36
NG_011474.1:g.78900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134G>A MANE Select	ENSP00000495214.1:p.Gln2378=
ENST00000368147.8:c.7134G>A	ENSP00000357129.4:p.Gln2378=
ENST00000481212.5:n.575G>A
ENST00000498708.1:n.566G>A
ENST00000614909.4:c.7134G>A	ENSP00000482595.1:p.Gln2378=
NM_003126.2:c.7134G>A	NP_003117.2:p.Gln2378=
XM_011509916.1:c.7134G>A	XP_011508218.1:p.Gln2378=
XM_011509917.1:c.7116G>A	XP_011508219.1:p.Gln2372=
NM_003126.3:c.7134G>A	NP_003117.2:p.Gln2378=
XM_011509916.2:c.7134G>A	XP_011508218.1:p.Gln2378=
XM_011509917.3:c.7116G>A	XP_011508219.1:p.Gln2372=
NM_003126.4:c.7134G>A MANE Select	NP_003117.2:p.Gln2378=