Canonical Allele Identifier: CA394188704

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412846G>T (hg19) ; chr16:g.1362845G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362845G>T , CM000678.2:g.1362845G>T	GRCh38
NC_000016.9:g.1412846G>T , CM000678.1:g.1412846G>T	GRCh37
NC_000016.8:g.1352847G>T	NCBI36
NG_016985.1:g.15947G>T
NG_033129.1:g.56860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.861G>T
ENST00000529110.2:c.846G>T	ENSP00000435349.2:p.Lys282Asn
ENST00000529957.6:n.820G>T
ENST00000683366.1:c.*494G>T	ENSP00000507283.1:n.*494G>T
ENST00000683887.1:c.810G>T	ENSP00000506886.1:p.Lys270Asn
ENST00000684100.1:n.756G>T
ENST00000684126.1:n.896G>T
ENST00000684688.1:n.1387G>T
ENST00000204679.9:c.762G>T MANE Select	ENSP00000204679.4:p.Lys254Asn
ENST00000204679.8:c.762G>T	ENSP00000204679.4:p.Lys254Asn
ENST00000527076.1:n.1985G>T
ENST00000527168.5:n.929G>T
ENST00000529957.5:n.861G>T
NM_032520.4:c.762G>T	NP_115909.1:p.Lys254Asn
XM_017023782.1:c.810G>T	XP_016879271.1:p.Lys270Asn
XM_017023783.1:c.402G>T	XP_016879272.1:p.Lys134Asn
NM_032520.5:c.762G>T MANE Select	NP_115909.1:p.Lys254Asn