Canonical Allele Identifier: CA493026742

Gene: GNPTG

Linked Data

• COSMIC: COSM4833784
• MyVariant Identifiers: chr16:g.1412897G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362896G>T , CM000678.2:g.1362896G>T	GRCh38
NC_000016.9:g.1412897G>T , CM000678.1:g.1412897G>T	GRCh37
NC_000016.8:g.1352898G>T	NCBI36
NG_016985.1:g.15998G>T
NG_033129.1:g.56809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.912G>T
ENST00000529110.2:c.897G>T	ENSP00000435349.2:p.Thr299=
ENST00000529957.6:n.871G>T
ENST00000683366.1:c.*545G>T	ENSP00000507283.1:n.*545G>T
ENST00000683887.1:c.861G>T	ENSP00000506886.1:p.Thr287=
ENST00000684100.1:n.807G>T
ENST00000684126.1:n.947G>T
ENST00000684688.1:n.1438G>T
ENST00000204679.9:c.813G>T MANE Select	ENSP00000204679.4:p.Thr271=
ENST00000204679.8:c.813G>T	ENSP00000204679.4:p.Thr271=
ENST00000527076.1:n.2036G>T
ENST00000527168.5:n.980G>T
ENST00000529957.5:n.912G>T
NM_032520.4:c.813G>T	NP_115909.1:p.Thr271=
XM_017023782.1:c.861G>T	XP_016879271.1:p.Thr287=
XM_017023783.1:c.453G>T	XP_016879272.1:p.Thr151=
NM_032520.5:c.813G>T MANE Select	NP_115909.1:p.Thr271=