Canonical Allele Identifier: CA493026479

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2732210
• ClinVar RCV Id: RCV003573390
• MyVariant Identifiers: chr16:g.1412215G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362214G>A , CM000678.2:g.1362214G>A	GRCh38
NC_000016.9:g.1412215G>A , CM000678.1:g.1412215G>A	GRCh37
NC_000016.8:g.1352216G>A	NCBI36
NG_016985.1:g.15316G>A
NG_033129.1:g.57491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.519G>A
ENST00000529110.2:c.504G>A	ENSP00000435349.2:p.Leu168=
ENST00000529957.6:n.478G>A
ENST00000683366.1:c.*152G>A	ENSP00000507283.1:n.*152G>A
ENST00000683887.1:c.468G>A	ENSP00000506886.1:p.Leu156=
ENST00000684100.1:n.414G>A
ENST00000684126.1:n.478G>A
ENST00000684688.1:n.1045G>A
ENST00000204679.9:c.420G>A MANE Select	ENSP00000204679.4:p.Leu140=
ENST00000204679.8:c.420G>A	ENSP00000204679.4:p.Leu140=
ENST00000527076.1:n.1436G>A
ENST00000527168.5:n.456G>A
ENST00000529110.1:c.487G>A
ENST00000529957.5:n.519G>A
NM_032520.4:c.420G>A	NP_115909.1:p.Leu140=
XM_017023782.1:c.468G>A	XP_016879271.1:p.Leu156=
XM_017023783.1:c.60G>A	XP_016879272.1:p.Leu20=
NM_032520.5:c.420G>A MANE Select	NP_115909.1:p.Leu140=