Canonical Allele Identifier: CA394187897

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412284C>A (hg19) ; chr16:g.1362283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362283C>A , CM000678.2:g.1362283C>A	GRCh38
NC_000016.9:g.1412284C>A , CM000678.1:g.1412284C>A	GRCh37
NC_000016.8:g.1352285C>A	NCBI36
NG_016985.1:g.15385C>A
NG_033129.1:g.57422G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.588C>A
ENST00000529110.2:c.573C>A	ENSP00000435349.2:p.Phe191Leu
ENST00000529957.6:n.547C>A
ENST00000683366.1:c.*221C>A	ENSP00000507283.1:n.*221C>A
ENST00000683887.1:c.537C>A	ENSP00000506886.1:p.Phe179Leu
ENST00000684100.1:n.483C>A
ENST00000684126.1:n.547C>A
ENST00000684688.1:n.1114C>A
ENST00000204679.9:c.489C>A MANE Select	ENSP00000204679.4:p.Phe163Leu
ENST00000204679.8:c.489C>A	ENSP00000204679.4:p.Phe163Leu
ENST00000527076.1:n.1505C>A
ENST00000527168.5:n.525C>A
ENST00000529957.5:n.588C>A
NM_032520.4:c.489C>A	NP_115909.1:p.Phe163Leu
XM_017023782.1:c.537C>A	XP_016879271.1:p.Phe179Leu
XM_017023783.1:c.129C>A	XP_016879272.1:p.Phe43Leu
NM_032520.5:c.489C>A MANE Select	NP_115909.1:p.Phe163Leu