Canonical Allele Identifier: CA394188921

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1413037G>T (hg19) ; chr16:g.1363036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1363036G>T , CM000678.2:g.1363036G>T	GRCh38
NC_000016.9:g.1413037G>T , CM000678.1:g.1413037G>T	GRCh37
NC_000016.8:g.1353038G>T	NCBI36
NG_016985.1:g.16138G>T
NG_033129.1:g.56669C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.962G>T
ENST00000529110.2:c.947G>T	ENSP00000435349.2:p.Arg316Ile
ENST00000529957.6:n.921G>T
ENST00000683366.1:c.*595G>T	ENSP00000507283.1:n.*595G>T
ENST00000683887.1:c.911G>T	ENSP00000506886.1:p.Arg304Ile
ENST00000684100.1:n.857G>T
ENST00000684126.1:n.997G>T
ENST00000684688.1:n.1488G>T
ENST00000204679.9:c.863G>T MANE Select	ENSP00000204679.4:p.Arg288Ile
ENST00000204679.8:c.863G>T	ENSP00000204679.4:p.Arg288Ile
ENST00000527076.1:n.2086G>T
ENST00000527168.5:n.1030G>T
NM_032520.4:c.863G>T	NP_115909.1:p.Arg288Ile
XM_017023782.1:c.911G>T	XP_016879271.1:p.Arg304Ile
XM_017023783.1:c.503G>T	XP_016879272.1:p.Arg168Ile
NM_032520.5:c.863G>T MANE Select	NP_115909.1:p.Arg288Ile