Canonical Allele Identifier: CA493026592

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412454G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362453G>T , CM000678.2:g.1362453G>T	GRCh38
NC_000016.9:g.1412454G>T , CM000678.1:g.1412454G>T	GRCh37
NC_000016.8:g.1352455G>T	NCBI36
NG_016985.1:g.15555G>T
NG_033129.1:g.57252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.627G>T
ENST00000529110.2:c.612G>T	ENSP00000435349.2:p.Val204=
ENST00000529957.6:n.586G>T
ENST00000683366.1:c.*260G>T	ENSP00000507283.1:n.*260G>T
ENST00000683887.1:c.576G>T	ENSP00000506886.1:p.Val192=
ENST00000684100.1:n.522G>T
ENST00000684126.1:n.586G>T
ENST00000684688.1:n.1153G>T
ENST00000204679.9:c.528G>T MANE Select	ENSP00000204679.4:p.Val176=
ENST00000204679.8:c.528G>T	ENSP00000204679.4:p.Val176=
ENST00000527076.1:n.1675G>T
ENST00000527168.5:n.695G>T
ENST00000529957.5:n.627G>T
NM_032520.4:c.528G>T	NP_115909.1:p.Val176=
XM_017023782.1:c.576G>T	XP_016879271.1:p.Val192=
XM_017023783.1:c.168G>T	XP_016879272.1:p.Val56=
NM_032520.5:c.528G>T MANE Select	NP_115909.1:p.Val176=