Canonical Allele Identifier: CA493026705

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2014994
• ClinVar RCV Id: RCV002846138
• MyVariant Identifiers: chr16:g.1412837A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362836A>G , CM000678.2:g.1362836A>G	GRCh38
NC_000016.9:g.1412837A>G , CM000678.1:g.1412837A>G	GRCh37
NC_000016.8:g.1352838A>G	NCBI36
NG_016985.1:g.15938A>G
NG_033129.1:g.56869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.852A>G
ENST00000529110.2:c.837A>G	ENSP00000435349.2:p.Glu279=
ENST00000529957.6:n.811A>G
ENST00000683366.1:c.*485A>G	ENSP00000507283.1:n.*485A>G
ENST00000683887.1:c.801A>G	ENSP00000506886.1:p.Glu267=
ENST00000684100.1:n.747A>G
ENST00000684126.1:n.887A>G
ENST00000684688.1:n.1378A>G
ENST00000204679.9:c.753A>G MANE Select	ENSP00000204679.4:p.Glu251=
ENST00000204679.8:c.753A>G	ENSP00000204679.4:p.Glu251=
ENST00000527076.1:n.1976A>G
ENST00000527168.5:n.920A>G
ENST00000529957.5:n.852A>G
NM_032520.4:c.753A>G	NP_115909.1:p.Glu251=
XM_017023782.1:c.801A>G	XP_016879271.1:p.Glu267=
XM_017023783.1:c.393A>G	XP_016879272.1:p.Glu131=
NM_032520.5:c.753A>G MANE Select	NP_115909.1:p.Glu251=