Canonical Allele Identifier: CA343011630

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612921-T-A
• MyVariant Identifiers: chr1:g.158582711T>A (hg19) ; chr1:g.158612921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612921T>A , CM000663.2:g.158612921T>A	GRCh38
NC_000001.10:g.158582711T>A , CM000663.1:g.158582711T>A	GRCh37
NC_000001.9:g.156849335T>A	NCBI36
NG_011474.1:g.78796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7030A>T MANE Select	ENSP00000495214.1:p.Ile2344Phe
ENST00000368147.8:c.7030A>T	ENSP00000357129.4:p.Ile2344Phe
ENST00000481212.5:n.471A>T
ENST00000498708.1:n.462A>T
ENST00000614909.4:c.7030A>T	ENSP00000482595.1:p.Ile2344Phe
NM_003126.2:c.7030A>T	NP_003117.2:p.Ile2344Phe
XM_011509916.1:c.7030A>T	XP_011508218.1:p.Ile2344Phe
XM_011509917.1:c.7012A>T	XP_011508219.1:p.Ile2338Phe
NM_003126.3:c.7030A>T	NP_003117.2:p.Ile2344Phe
XM_011509916.2:c.7030A>T	XP_011508218.1:p.Ile2344Phe
XM_011509917.3:c.7012A>T	XP_011508219.1:p.Ile2338Phe
NM_003126.4:c.7030A>T MANE Select	NP_003117.2:p.Ile2344Phe