Canonical Allele Identifier: CA493026714

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1630970
• ClinVar RCV Id: RCV002123695
• dbSNP Id: rs763568351
• MyVariant Identifiers: chr16:g.1412852C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362851C>T , CM000678.2:g.1362851C>T	GRCh38
NC_000016.9:g.1412852C>T , CM000678.1:g.1412852C>T	GRCh37
NC_000016.8:g.1352853C>T	NCBI36
NG_016985.1:g.15953C>T
NG_033129.1:g.56854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.867C>T
ENST00000529110.2:c.852C>T	ENSP00000435349.2:p.Ile284=
ENST00000529957.6:n.826C>T
ENST00000683366.1:c.*500C>T	ENSP00000507283.1:n.*500C>T
ENST00000683887.1:c.816C>T	ENSP00000506886.1:p.Ile272=
ENST00000684100.1:n.762C>T
ENST00000684126.1:n.902C>T
ENST00000684688.1:n.1393C>T
ENST00000204679.9:c.768C>T MANE Select	ENSP00000204679.4:p.Ile256=
ENST00000204679.8:c.768C>T	ENSP00000204679.4:p.Ile256=
ENST00000527076.1:n.1991C>T
ENST00000527168.5:n.935C>T
ENST00000529957.5:n.867C>T
NM_032520.4:c.768C>T	NP_115909.1:p.Ile256=
XM_017023782.1:c.816C>T	XP_016879271.1:p.Ile272=
XM_017023783.1:c.408C>T	XP_016879272.1:p.Ile136=
NM_032520.5:c.768C>T MANE Select	NP_115909.1:p.Ile256=