Canonical Allele Identifier: CA394187208

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412052T>A (hg19) ; chr16:g.1362051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362051T>A , CM000678.2:g.1362051T>A	GRCh38
NC_000016.9:g.1412052T>A , CM000678.1:g.1412052T>A	GRCh37
NC_000016.8:g.1352053T>A	NCBI36
NG_016985.1:g.15153T>A
NG_033129.1:g.57654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.430T>A
ENST00000529110.2:c.415T>A	ENSP00000435349.2:p.Trp139Arg
ENST00000529957.6:n.389T>A
ENST00000683366.1:c.*63T>A	ENSP00000507283.1:n.*63T>A
ENST00000683887.1:c.379T>A	ENSP00000506886.1:p.Trp127Arg
ENST00000684100.1:n.325T>A
ENST00000684126.1:n.389T>A
ENST00000684688.1:n.956T>A
ENST00000204679.9:c.331T>A MANE Select	ENSP00000204679.4:p.Trp111Arg
ENST00000204679.8:c.331T>A	ENSP00000204679.4:p.Trp111Arg
ENST00000526820.5:c.*233T>A	ENSP00000434413.1:n.*233T>A
ENST00000527076.1:n.1347T>A
ENST00000527168.5:n.367T>A
ENST00000529110.1:c.398T>A
ENST00000529957.5:n.430T>A
NM_032520.4:c.331T>A	NP_115909.1:p.Trp111Arg
XM_017023782.1:c.379T>A	XP_016879271.1:p.Trp127Arg
XM_017023783.1:c.-30T>A	XP_016879272.1:n.-30T>A
NM_032520.5:c.331T>A MANE Select	NP_115909.1:p.Trp111Arg