Canonical Allele Identifier: CA394188764

Gene: GNPTG

Linked Data

• dbSNP Id: rs779227679
• gnomAD v4: 16-1362874-C-T
• MyVariant Identifiers: chr16:g.1412875C>T (hg19) ; chr16:g.1362874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362874C>T , CM000678.2:g.1362874C>T	GRCh38
NC_000016.9:g.1412875C>T , CM000678.1:g.1412875C>T	GRCh37
NC_000016.8:g.1352876C>T	NCBI36
NG_016985.1:g.15976C>T
NG_033129.1:g.56831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.890C>T
ENST00000529110.2:c.875C>T	ENSP00000435349.2:p.Thr292Ile
ENST00000529957.6:n.849C>T
ENST00000683366.1:c.*523C>T	ENSP00000507283.1:n.*523C>T
ENST00000683887.1:c.839C>T	ENSP00000506886.1:p.Thr280Ile
ENST00000684100.1:n.785C>T
ENST00000684126.1:n.925C>T
ENST00000684688.1:n.1416C>T
ENST00000204679.9:c.791C>T MANE Select	ENSP00000204679.4:p.Thr264Ile
ENST00000204679.8:c.791C>T	ENSP00000204679.4:p.Thr264Ile
ENST00000527076.1:n.2014C>T
ENST00000527168.5:n.958C>T
ENST00000529957.5:n.890C>T
NM_032520.4:c.791C>T	NP_115909.1:p.Thr264Ile
XM_017023782.1:c.839C>T	XP_016879271.1:p.Thr280Ile
XM_017023783.1:c.431C>T	XP_016879272.1:p.Thr144Ile
NM_032520.5:c.791C>T MANE Select	NP_115909.1:p.Thr264Ile