Canonical Allele Identifier: CA394186847

Gene: GNPTG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.357C>G
ENST00000529110.2:c.342C>G	ENSP00000435349.2:p.Phe114Leu
ENST00000529957.6:n.316C>G
ENST00000683366.1:c.203C>G	ENSP00000507283.1:p.Ser68Cys
ENST00000683887.1:c.306C>G	ENSP00000506886.1:p.Phe102Leu
ENST00000684100.1:n.252C>G
ENST00000684126.1:n.316C>G
ENST00000684688.1:n.883C>G
ENST00000204679.9:c.258C>G MANE Select	ENSP00000204679.4:p.Phe86Leu
ENST00000204679.8:c.258C>G	ENSP00000204679.4:p.Phe86Leu
ENST00000526820.5:c.*160C>G	ENSP00000434413.1:n.*160C>G
ENST00000527076.1:n.1274C>G
ENST00000527168.5:n.294C>G
ENST00000529110.1:c.325C>G
ENST00000529957.5:n.357C>G
NM_032520.4:c.258C>G	NP_115909.1:p.Phe86Leu
XM_017023782.1:c.306C>G	XP_016879271.1:p.Phe102Leu
XM_017023783.1:c.-103C>G	XP_016879272.1:n.-103C>G
NM_032520.5:c.258C>G MANE Select	NP_115909.1:p.Phe86Leu