Canonical Allele Identifier: CA394188765

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412877C>A (hg19) ; chr16:g.1362876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362876C>A , CM000678.2:g.1362876C>A	GRCh38
NC_000016.9:g.1412877C>A , CM000678.1:g.1412877C>A	GRCh37
NC_000016.8:g.1352878C>A	NCBI36
NG_016985.1:g.15978C>A
NG_033129.1:g.56829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.892C>A
ENST00000529110.2:c.877C>A	ENSP00000435349.2:p.Gln293Lys
ENST00000529957.6:n.851C>A
ENST00000683366.1:c.*525C>A	ENSP00000507283.1:n.*525C>A
ENST00000683887.1:c.841C>A	ENSP00000506886.1:p.Gln281Lys
ENST00000684100.1:n.787C>A
ENST00000684126.1:n.927C>A
ENST00000684688.1:n.1418C>A
ENST00000204679.9:c.793C>A MANE Select	ENSP00000204679.4:p.Gln265Lys
ENST00000204679.8:c.793C>A	ENSP00000204679.4:p.Gln265Lys
ENST00000527076.1:n.2016C>A
ENST00000527168.5:n.960C>A
ENST00000529957.5:n.892C>A
NM_032520.4:c.793C>A	NP_115909.1:p.Gln265Lys
XM_017023782.1:c.841C>A	XP_016879271.1:p.Gln281Lys
XM_017023783.1:c.433C>A	XP_016879272.1:p.Gln145Lys
NM_032520.5:c.793C>A MANE Select	NP_115909.1:p.Gln265Lys