Canonical Allele Identifier: CA394187898

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412285G>T (hg19) ; chr16:g.1362284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362284G>T , CM000678.2:g.1362284G>T	GRCh38
NC_000016.9:g.1412285G>T , CM000678.1:g.1412285G>T	GRCh37
NC_000016.8:g.1352286G>T	NCBI36
NG_016985.1:g.15386G>T
NG_033129.1:g.57421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.589G>T
ENST00000529110.2:c.574G>T	ENSP00000435349.2:p.Glu192Ter
ENST00000529957.6:n.548G>T
ENST00000683366.1:c.*222G>T	ENSP00000507283.1:n.*222G>T
ENST00000683887.1:c.538G>T	ENSP00000506886.1:p.Glu180Ter
ENST00000684100.1:n.484G>T
ENST00000684126.1:n.548G>T
ENST00000684688.1:n.1115G>T
ENST00000204679.9:c.490G>T MANE Select	ENSP00000204679.4:p.Glu164Ter
ENST00000204679.8:c.490G>T	ENSP00000204679.4:p.Glu164Ter
ENST00000527076.1:n.1506G>T
ENST00000527168.5:n.526G>T
ENST00000529957.5:n.589G>T
NM_032520.4:c.490G>T	NP_115909.1:p.Glu164Ter
XM_017023782.1:c.538G>T	XP_016879271.1:p.Glu180Ter
XM_017023783.1:c.130G>T	XP_016879272.1:p.Glu44Ter
NM_032520.5:c.490G>T MANE Select	NP_115909.1:p.Glu164Ter