Canonical Allele Identifier: CA394187217

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412055G>T (hg19) ; chr16:g.1362054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362054G>T , CM000678.2:g.1362054G>T	GRCh38
NC_000016.9:g.1412055G>T , CM000678.1:g.1412055G>T	GRCh37
NC_000016.8:g.1352056G>T	NCBI36
NG_016985.1:g.15156G>T
NG_033129.1:g.57651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.433G>T
ENST00000529110.2:c.418G>T	ENSP00000435349.2:p.Glu140Ter
ENST00000529957.6:n.392G>T
ENST00000683366.1:c.*66G>T	ENSP00000507283.1:n.*66G>T
ENST00000683887.1:c.382G>T	ENSP00000506886.1:p.Glu128Ter
ENST00000684100.1:n.328G>T
ENST00000684126.1:n.392G>T
ENST00000684688.1:n.959G>T
ENST00000204679.9:c.334G>T MANE Select	ENSP00000204679.4:p.Glu112Ter
ENST00000204679.8:c.334G>T	ENSP00000204679.4:p.Glu112Ter
ENST00000526820.5:c.*236G>T	ENSP00000434413.1:n.*236G>T
ENST00000527076.1:n.1350G>T
ENST00000527168.5:n.370G>T
ENST00000529110.1:c.401G>T
ENST00000529957.5:n.433G>T
NM_032520.4:c.334G>T	NP_115909.1:p.Glu112Ter
XM_017023782.1:c.382G>T	XP_016879271.1:p.Glu128Ter
XM_017023783.1:c.-27G>T	XP_016879272.1:n.-27G>T
NM_032520.5:c.334G>T MANE Select	NP_115909.1:p.Glu112Ter