Canonical Allele Identifier: CA394188786

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412887T>G (hg19) ; chr16:g.1362886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362886T>G , CM000678.2:g.1362886T>G	GRCh38
NC_000016.9:g.1412887T>G , CM000678.1:g.1412887T>G	GRCh37
NC_000016.8:g.1352888T>G	NCBI36
NG_016985.1:g.15988T>G
NG_033129.1:g.56819A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.902T>G
ENST00000529110.2:c.887T>G	ENSP00000435349.2:p.Ile296Ser
ENST00000529957.6:n.861T>G
ENST00000683366.1:c.*535T>G	ENSP00000507283.1:n.*535T>G
ENST00000683887.1:c.851T>G	ENSP00000506886.1:p.Ile284Ser
ENST00000684100.1:n.797T>G
ENST00000684126.1:n.937T>G
ENST00000684688.1:n.1428T>G
ENST00000204679.9:c.803T>G MANE Select	ENSP00000204679.4:p.Ile268Ser
ENST00000204679.8:c.803T>G	ENSP00000204679.4:p.Ile268Ser
ENST00000527076.1:n.2026T>G
ENST00000527168.5:n.970T>G
ENST00000529957.5:n.902T>G
NM_032520.4:c.803T>G	NP_115909.1:p.Ile268Ser
XM_017023782.1:c.851T>G	XP_016879271.1:p.Ile284Ser
XM_017023783.1:c.443T>G	XP_016879272.1:p.Ile148Ser
NM_032520.5:c.803T>G MANE Select	NP_115909.1:p.Ile268Ser