Canonical Allele Identifier: CA394186846

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411897C>A (hg19) ; chr16:g.1361896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361896C>A , CM000678.2:g.1361896C>A	GRCh38
NC_000016.9:g.1411897C>A , CM000678.1:g.1411897C>A	GRCh37
NC_000016.8:g.1351898C>A	NCBI36
NG_016985.1:g.14998C>A
NG_033129.1:g.57809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.357C>A
ENST00000529110.2:c.342C>A	ENSP00000435349.2:p.Phe114Leu
ENST00000529957.6:n.316C>A
ENST00000683366.1:c.203C>A	ENSP00000507283.1:p.Ser68Tyr
ENST00000683887.1:c.306C>A	ENSP00000506886.1:p.Phe102Leu
ENST00000684100.1:n.252C>A
ENST00000684126.1:n.316C>A
ENST00000684688.1:n.883C>A
ENST00000204679.9:c.258C>A MANE Select	ENSP00000204679.4:p.Phe86Leu
ENST00000204679.8:c.258C>A	ENSP00000204679.4:p.Phe86Leu
ENST00000526820.5:c.*160C>A	ENSP00000434413.1:n.*160C>A
ENST00000527076.1:n.1274C>A
ENST00000527168.5:n.294C>A
ENST00000529110.1:c.325C>A
ENST00000529957.5:n.357C>A
NM_032520.4:c.258C>A	NP_115909.1:p.Phe86Leu
XM_017023782.1:c.306C>A	XP_016879271.1:p.Phe102Leu
XM_017023783.1:c.-103C>A	XP_016879272.1:n.-103C>A
NM_032520.5:c.258C>A MANE Select	NP_115909.1:p.Phe86Leu