Canonical Allele Identifier: CA343011264

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612867-G-T
• MyVariant Identifiers: chr1:g.158582657G>T (hg19) ; chr1:g.158612867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612867G>T , CM000663.2:g.158612867G>T	GRCh38
NC_000001.10:g.158582657G>T , CM000663.1:g.158582657G>T	GRCh37
NC_000001.9:g.156849281G>T	NCBI36
NG_011474.1:g.78850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7084C>A MANE Select	ENSP00000495214.1:p.Gln2362Lys
ENST00000368147.8:c.7084C>A	ENSP00000357129.4:p.Gln2362Lys
ENST00000481212.5:n.525C>A
ENST00000498708.1:n.516C>A
ENST00000614909.4:c.7084C>A	ENSP00000482595.1:p.Gln2362Lys
NM_003126.2:c.7084C>A	NP_003117.2:p.Gln2362Lys
XM_011509916.1:c.7084C>A	XP_011508218.1:p.Gln2362Lys
XM_011509917.1:c.7066C>A	XP_011508219.1:p.Gln2356Lys
NM_003126.3:c.7084C>A	NP_003117.2:p.Gln2362Lys
XM_011509916.2:c.7084C>A	XP_011508218.1:p.Gln2362Lys
XM_011509917.3:c.7066C>A	XP_011508219.1:p.Gln2356Lys
NM_003126.4:c.7084C>A MANE Select	NP_003117.2:p.Gln2362Lys