Canonical Allele Identifier: CA394188809

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412899G>T (hg19) ; chr16:g.1362898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362898G>T , CM000678.2:g.1362898G>T	GRCh38
NC_000016.9:g.1412899G>T , CM000678.1:g.1412899G>T	GRCh37
NC_000016.8:g.1352900G>T	NCBI36
NG_016985.1:g.16000G>T
NG_033129.1:g.56807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.914G>T
ENST00000529110.2:c.899G>T	ENSP00000435349.2:p.Arg300Met
ENST00000529957.6:n.873G>T
ENST00000683366.1:c.*547G>T	ENSP00000507283.1:n.*547G>T
ENST00000683887.1:c.863G>T	ENSP00000506886.1:p.Arg288Met
ENST00000684100.1:n.809G>T
ENST00000684126.1:n.949G>T
ENST00000684688.1:n.1440G>T
ENST00000204679.9:c.815G>T MANE Select	ENSP00000204679.4:p.Arg272Met
ENST00000204679.8:c.815G>T	ENSP00000204679.4:p.Arg272Met
ENST00000527076.1:n.2038G>T
ENST00000527168.5:n.982G>T
ENST00000529957.5:n.914G>T
NM_032520.4:c.815G>T	NP_115909.1:p.Arg272Met
XM_017023782.1:c.863G>T	XP_016879271.1:p.Arg288Met
XM_017023783.1:c.455G>T	XP_016879272.1:p.Arg152Met
NM_032520.5:c.815G>T MANE Select	NP_115909.1:p.Arg272Met