Canonical Allele Identifier: CA394188785

Gene: GNPTG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.902T>C
ENST00000529110.2:c.887T>C	ENSP00000435349.2:p.Ile296Thr
ENST00000529957.6:n.861T>C
ENST00000683366.1:c.*535T>C	ENSP00000507283.1:n.*535T>C
ENST00000683887.1:c.851T>C	ENSP00000506886.1:p.Ile284Thr
ENST00000684100.1:n.797T>C
ENST00000684126.1:n.937T>C
ENST00000684688.1:n.1428T>C
ENST00000204679.9:c.803T>C MANE Select	ENSP00000204679.4:p.Ile268Thr
ENST00000204679.8:c.803T>C	ENSP00000204679.4:p.Ile268Thr
ENST00000527076.1:n.2026T>C
ENST00000527168.5:n.970T>C
ENST00000529957.5:n.902T>C
NM_032520.4:c.803T>C	NP_115909.1:p.Ile268Thr
XM_017023782.1:c.851T>C	XP_016879271.1:p.Ile284Thr
XM_017023783.1:c.443T>C	XP_016879272.1:p.Ile148Thr
NM_032520.5:c.803T>C MANE Select	NP_115909.1:p.Ile268Thr