Canonical Allele Identifier: CA394188700

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362844-A-C
• MyVariant Identifiers: chr16:g.1412845A>C (hg19) ; chr16:g.1362844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362844A>C , CM000678.2:g.1362844A>C	GRCh38
NC_000016.9:g.1412845A>C , CM000678.1:g.1412845A>C	GRCh37
NC_000016.8:g.1352846A>C	NCBI36
NG_016985.1:g.15946A>C
NG_033129.1:g.56861T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.860A>C
ENST00000529110.2:c.845A>C	ENSP00000435349.2:p.Lys282Thr
ENST00000529957.6:n.819A>C
ENST00000683366.1:c.*493A>C	ENSP00000507283.1:n.*493A>C
ENST00000683887.1:c.809A>C	ENSP00000506886.1:p.Lys270Thr
ENST00000684100.1:n.755A>C
ENST00000684126.1:n.895A>C
ENST00000684688.1:n.1386A>C
ENST00000204679.9:c.761A>C MANE Select	ENSP00000204679.4:p.Lys254Thr
ENST00000204679.8:c.761A>C	ENSP00000204679.4:p.Lys254Thr
ENST00000527076.1:n.1984A>C
ENST00000527168.5:n.928A>C
ENST00000529957.5:n.860A>C
NM_032520.4:c.761A>C	NP_115909.1:p.Lys254Thr
XM_017023782.1:c.809A>C	XP_016879271.1:p.Lys270Thr
XM_017023783.1:c.401A>C	XP_016879272.1:p.Lys134Thr
NM_032520.5:c.761A>C MANE Select	NP_115909.1:p.Lys254Thr