Canonical Allele Identifier: CA394187890

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412282T>A (hg19) ; chr16:g.1362281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362281T>A , CM000678.2:g.1362281T>A	GRCh38
NC_000016.9:g.1412282T>A , CM000678.1:g.1412282T>A	GRCh37
NC_000016.8:g.1352283T>A	NCBI36
NG_016985.1:g.15383T>A
NG_033129.1:g.57424A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.586T>A
ENST00000529110.2:c.571T>A	ENSP00000435349.2:p.Phe191Ile
ENST00000529957.6:n.545T>A
ENST00000683366.1:c.*219T>A	ENSP00000507283.1:n.*219T>A
ENST00000683887.1:c.535T>A	ENSP00000506886.1:p.Phe179Ile
ENST00000684100.1:n.481T>A
ENST00000684126.1:n.545T>A
ENST00000684688.1:n.1112T>A
ENST00000204679.9:c.487T>A MANE Select	ENSP00000204679.4:p.Phe163Ile
ENST00000204679.8:c.487T>A	ENSP00000204679.4:p.Phe163Ile
ENST00000527076.1:n.1503T>A
ENST00000527168.5:n.523T>A
ENST00000529957.5:n.586T>A
NM_032520.4:c.487T>A	NP_115909.1:p.Phe163Ile
XM_017023782.1:c.535T>A	XP_016879271.1:p.Phe179Ile
XM_017023783.1:c.127T>A	XP_016879272.1:p.Phe43Ile
NM_032520.5:c.487T>A MANE Select	NP_115909.1:p.Phe163Ile