Canonical Allele Identifier: CA394187889

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412280C>G (hg19) ; chr16:g.1362279C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362279C>G , CM000678.2:g.1362279C>G	GRCh38
NC_000016.9:g.1412280C>G , CM000678.1:g.1412280C>G	GRCh37
NC_000016.8:g.1352281C>G	NCBI36
NG_016985.1:g.15381C>G
NG_033129.1:g.57426G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.584C>G
ENST00000529110.2:c.569C>G	ENSP00000435349.2:p.Thr190Arg
ENST00000529957.6:n.543C>G
ENST00000683366.1:c.*217C>G	ENSP00000507283.1:n.*217C>G
ENST00000683887.1:c.533C>G	ENSP00000506886.1:p.Thr178Arg
ENST00000684100.1:n.479C>G
ENST00000684126.1:n.543C>G
ENST00000684688.1:n.1110C>G
ENST00000204679.9:c.485C>G MANE Select	ENSP00000204679.4:p.Thr162Arg
ENST00000204679.8:c.485C>G	ENSP00000204679.4:p.Thr162Arg
ENST00000527076.1:n.1501C>G
ENST00000527168.5:n.521C>G
ENST00000529110.1:c.552C>G
ENST00000529957.5:n.584C>G
NM_032520.4:c.485C>G	NP_115909.1:p.Thr162Arg
XM_017023782.1:c.533C>G	XP_016879271.1:p.Thr178Arg
XM_017023783.1:c.125C>G	XP_016879272.1:p.Thr42Arg
NM_032520.5:c.485C>G MANE Select	NP_115909.1:p.Thr162Arg