Canonical Allele Identifier: CA394186990

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411931T>G (hg19) ; chr16:g.1361930T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361930T>G , CM000678.2:g.1361930T>G	GRCh38
NC_000016.9:g.1411931T>G , CM000678.1:g.1411931T>G	GRCh37
NC_000016.8:g.1351932T>G	NCBI36
NG_016985.1:g.15032T>G
NG_033129.1:g.57775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.391T>G
ENST00000529110.2:c.376T>G	ENSP00000435349.2:p.Trp126Gly
ENST00000529957.6:n.350T>G
ENST00000683366.1:c.*24T>G	ENSP00000507283.1:n.*24T>G
ENST00000683887.1:c.340T>G	ENSP00000506886.1:p.Trp114Gly
ENST00000684100.1:n.286T>G
ENST00000684126.1:n.350T>G
ENST00000684688.1:n.917T>G
ENST00000204679.9:c.292T>G MANE Select	ENSP00000204679.4:p.Trp98Gly
ENST00000204679.8:c.292T>G	ENSP00000204679.4:p.Trp98Gly
ENST00000526820.5:c.*194T>G	ENSP00000434413.1:n.*194T>G
ENST00000527076.1:n.1308T>G
ENST00000527168.5:n.328T>G
ENST00000529110.1:c.359T>G
ENST00000529957.5:n.391T>G
NM_032520.4:c.292T>G	NP_115909.1:p.Trp98Gly
XM_017023782.1:c.340T>G	XP_016879271.1:p.Trp114Gly
XM_017023783.1:c.-69T>G	XP_016879272.1:n.-69T>G
NM_032520.5:c.292T>G MANE Select	NP_115909.1:p.Trp98Gly