Canonical Allele Identifier: CA493026731

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2709258
• ClinVar RCV Id: RCV003547914
• MyVariant Identifiers: chr16:g.1412876C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362875C>G , CM000678.2:g.1362875C>G	GRCh38
NC_000016.9:g.1412876C>G , CM000678.1:g.1412876C>G	GRCh37
NC_000016.8:g.1352877C>G	NCBI36
NG_016985.1:g.15977C>G
NG_033129.1:g.56830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.891C>G
ENST00000529110.2:c.876C>G	ENSP00000435349.2:p.Thr292=
ENST00000529957.6:n.850C>G
ENST00000683366.1:c.*524C>G	ENSP00000507283.1:n.*524C>G
ENST00000683887.1:c.840C>G	ENSP00000506886.1:p.Thr280=
ENST00000684100.1:n.786C>G
ENST00000684126.1:n.926C>G
ENST00000684688.1:n.1417C>G
ENST00000204679.9:c.792C>G MANE Select	ENSP00000204679.4:p.Thr264=
ENST00000204679.8:c.792C>G	ENSP00000204679.4:p.Thr264=
ENST00000527076.1:n.2015C>G
ENST00000527168.5:n.959C>G
ENST00000529957.5:n.891C>G
NM_032520.4:c.792C>G	NP_115909.1:p.Thr264=
XM_017023782.1:c.840C>G	XP_016879271.1:p.Thr280=
XM_017023783.1:c.432C>G	XP_016879272.1:p.Thr144=
NM_032520.5:c.792C>G MANE Select	NP_115909.1:p.Thr264=