Canonical Allele Identifier: CA394187630

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362219-G-A
• COSMIC: COSM1253377
• MyVariant Identifiers: chr16:g.1412220G>A (hg19) ; chr16:g.1362219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362219G>A , CM000678.2:g.1362219G>A	GRCh38
NC_000016.9:g.1412220G>A , CM000678.1:g.1412220G>A	GRCh37
NC_000016.8:g.1352221G>A	NCBI36
NG_016985.1:g.15321G>A
NG_033129.1:g.57486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.524G>A
ENST00000529110.2:c.509G>A	ENSP00000435349.2:p.Cys170Tyr
ENST00000529957.6:n.483G>A
ENST00000683366.1:c.*157G>A	ENSP00000507283.1:n.*157G>A
ENST00000683887.1:c.473G>A	ENSP00000506886.1:p.Cys158Tyr
ENST00000684100.1:n.419G>A
ENST00000684126.1:n.483G>A
ENST00000684688.1:n.1050G>A
ENST00000204679.9:c.425G>A MANE Select	ENSP00000204679.4:p.Cys142Tyr
ENST00000204679.8:c.425G>A	ENSP00000204679.4:p.Cys142Tyr
ENST00000527076.1:n.1441G>A
ENST00000527168.5:n.461G>A
ENST00000529110.1:c.492G>A
ENST00000529957.5:n.524G>A
NM_032520.4:c.425G>A	NP_115909.1:p.Cys142Tyr
XM_017023782.1:c.473G>A	XP_016879271.1:p.Cys158Tyr
XM_017023783.1:c.65G>A	XP_016879272.1:p.Cys22Tyr
NM_032520.5:c.425G>A MANE Select	NP_115909.1:p.Cys142Tyr