Canonical Allele Identifier: CA276658142

Gene: GNPTG

Linked Data

• dbSNP Id: rs11554986
• MyVariant Identifiers: chr16:g.1412459C>A (hg19) ; chr16:g.1362458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362458C>A , CM000678.2:g.1362458C>A	GRCh38
NC_000016.9:g.1412459C>A , CM000678.1:g.1412459C>A	GRCh37
NC_000016.8:g.1352460C>A	NCBI36
NG_016985.1:g.15560C>A
NG_033129.1:g.57247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.632C>A
ENST00000529110.2:c.617C>A	ENSP00000435349.2:p.Pro206Gln
ENST00000529957.6:n.591C>A
ENST00000683366.1:c.*265C>A	ENSP00000507283.1:n.*265C>A
ENST00000683887.1:c.581C>A	ENSP00000506886.1:p.Pro194Gln
ENST00000684100.1:n.527C>A
ENST00000684126.1:n.591C>A
ENST00000684688.1:n.1158C>A
ENST00000204679.9:c.533C>A MANE Select	ENSP00000204679.4:p.Pro178Gln
ENST00000204679.8:c.533C>A	ENSP00000204679.4:p.Pro178Gln
ENST00000527076.1:n.1680C>A
ENST00000527168.5:n.700C>A
ENST00000529957.5:n.632C>A
NM_032520.4:c.533C>A	NP_115909.1:p.Pro178Gln
XM_017023782.1:c.581C>A	XP_016879271.1:p.Pro194Gln
XM_017023783.1:c.173C>A	XP_016879272.1:p.Pro58Gln
NM_032520.5:c.533C>A MANE Select	NP_115909.1:p.Pro178Gln