Canonical Allele Identifier: CA394186989

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411931T>A (hg19) ; chr16:g.1361930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361930T>A , CM000678.2:g.1361930T>A	GRCh38
NC_000016.9:g.1411931T>A , CM000678.1:g.1411931T>A	GRCh37
NC_000016.8:g.1351932T>A	NCBI36
NG_016985.1:g.15032T>A
NG_033129.1:g.57775A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.391T>A
ENST00000529110.2:c.376T>A	ENSP00000435349.2:p.Trp126Arg
ENST00000529957.6:n.350T>A
ENST00000683366.1:c.*24T>A	ENSP00000507283.1:n.*24T>A
ENST00000683887.1:c.340T>A	ENSP00000506886.1:p.Trp114Arg
ENST00000684100.1:n.286T>A
ENST00000684126.1:n.350T>A
ENST00000684688.1:n.917T>A
ENST00000204679.9:c.292T>A MANE Select	ENSP00000204679.4:p.Trp98Arg
ENST00000204679.8:c.292T>A	ENSP00000204679.4:p.Trp98Arg
ENST00000526820.5:c.*194T>A	ENSP00000434413.1:n.*194T>A
ENST00000527076.1:n.1308T>A
ENST00000527168.5:n.328T>A
ENST00000529110.1:c.359T>A
ENST00000529957.5:n.391T>A
NM_032520.4:c.292T>A	NP_115909.1:p.Trp98Arg
XM_017023782.1:c.340T>A	XP_016879271.1:p.Trp114Arg
XM_017023783.1:c.-69T>A	XP_016879272.1:n.-69T>A
NM_032520.5:c.292T>A MANE Select	NP_115909.1:p.Trp98Arg