Canonical Allele Identifier: CA493026727

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412870G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362869G>A , CM000678.2:g.1362869G>A	GRCh38
NC_000016.9:g.1412870G>A , CM000678.1:g.1412870G>A	GRCh37
NC_000016.8:g.1352871G>A	NCBI36
NG_016985.1:g.15971G>A
NG_033129.1:g.56836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.885G>A
ENST00000529110.2:c.870G>A	ENSP00000435349.2:p.Leu290=
ENST00000529957.6:n.844G>A
ENST00000683366.1:c.*518G>A	ENSP00000507283.1:n.*518G>A
ENST00000683887.1:c.834G>A	ENSP00000506886.1:p.Leu278=
ENST00000684100.1:n.780G>A
ENST00000684126.1:n.920G>A
ENST00000684688.1:n.1411G>A
ENST00000204679.9:c.786G>A MANE Select	ENSP00000204679.4:p.Leu262=
ENST00000204679.8:c.786G>A	ENSP00000204679.4:p.Leu262=
ENST00000527076.1:n.2009G>A
ENST00000527168.5:n.953G>A
ENST00000529957.5:n.885G>A
NM_032520.4:c.786G>A	NP_115909.1:p.Leu262=
XM_017023782.1:c.834G>A	XP_016879271.1:p.Leu278=
XM_017023783.1:c.426G>A	XP_016879272.1:p.Leu142=
NM_032520.5:c.786G>A MANE Select	NP_115909.1:p.Leu262=