Canonical Allele Identifier: CA493026631

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412529C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362528C>G , CM000678.2:g.1362528C>G	GRCh38
NC_000016.9:g.1412529C>G , CM000678.1:g.1412529C>G	GRCh37
NC_000016.8:g.1352530C>G	NCBI36
NG_016985.1:g.15630C>G
NG_033129.1:g.57177G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.702C>G
ENST00000529110.2:c.687C>G	ENSP00000435349.2:p.Thr229=
ENST00000529957.6:n.661C>G
ENST00000683366.1:c.*335C>G	ENSP00000507283.1:n.*335C>G
ENST00000683887.1:c.651C>G	ENSP00000506886.1:p.Thr217=
ENST00000684100.1:n.597C>G
ENST00000684126.1:n.661C>G
ENST00000684688.1:n.1228C>G
ENST00000204679.9:c.603C>G MANE Select	ENSP00000204679.4:p.Thr201=
ENST00000204679.8:c.603C>G	ENSP00000204679.4:p.Thr201=
ENST00000527076.1:n.1750C>G
ENST00000527168.5:n.770C>G
ENST00000529957.5:n.702C>G
NM_032520.4:c.603C>G	NP_115909.1:p.Thr201=
XM_017023782.1:c.651C>G	XP_016879271.1:p.Thr217=
XM_017023783.1:c.243C>G	XP_016879272.1:p.Thr81=
NM_032520.5:c.603C>G MANE Select	NP_115909.1:p.Thr201=