Canonical Allele Identifier: CA493026550

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412293C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362292C>T , CM000678.2:g.1362292C>T	GRCh38
NC_000016.9:g.1412293C>T , CM000678.1:g.1412293C>T	GRCh37
NC_000016.8:g.1352294C>T	NCBI36
NG_016985.1:g.15394C>T
NG_033129.1:g.57413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.597C>T
ENST00000529110.2:c.582C>T	ENSP00000435349.2:p.Pro194=
ENST00000529957.6:n.556C>T
ENST00000683366.1:c.*230C>T	ENSP00000507283.1:n.*230C>T
ENST00000683887.1:c.546C>T	ENSP00000506886.1:p.Pro182=
ENST00000684100.1:n.492C>T
ENST00000684126.1:n.556C>T
ENST00000684688.1:n.1123C>T
ENST00000204679.9:c.498C>T MANE Select	ENSP00000204679.4:p.Pro166=
ENST00000204679.8:c.498C>T	ENSP00000204679.4:p.Pro166=
ENST00000527076.1:n.1514C>T
ENST00000527168.5:n.534C>T
ENST00000529957.5:n.597C>T
NM_032520.4:c.498C>T	NP_115909.1:p.Pro166=
XM_017023782.1:c.546C>T	XP_016879271.1:p.Pro182=
XM_017023783.1:c.138C>T	XP_016879272.1:p.Pro46=
NM_032520.5:c.498C>T MANE Select	NP_115909.1:p.Pro166=