Canonical Allele Identifier: CA493026531

Gene: GNPTG

Linked Data

• dbSNP Id: rs1435870730
• gnomAD v4: 16-1362275-C-T
• MyVariant Identifiers: chr16:g.1412276C>T (hg19) ; chr16:g.1362275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362275C>T , CM000678.2:g.1362275C>T	GRCh38
NC_000016.9:g.1412276C>T , CM000678.1:g.1412276C>T	GRCh37
NC_000016.8:g.1352277C>T	NCBI36
NG_016985.1:g.15377C>T
NG_033129.1:g.57430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.580C>T
ENST00000529110.2:c.565C>T	ENSP00000435349.2:p.Leu189=
ENST00000529957.6:n.539C>T
ENST00000683366.1:c.*213C>T	ENSP00000507283.1:n.*213C>T
ENST00000683887.1:c.529C>T	ENSP00000506886.1:p.Leu177=
ENST00000684100.1:n.475C>T
ENST00000684126.1:n.539C>T
ENST00000684688.1:n.1106C>T
ENST00000204679.9:c.481C>T MANE Select	ENSP00000204679.4:p.Leu161=
ENST00000204679.8:c.481C>T	ENSP00000204679.4:p.Leu161=
ENST00000527076.1:n.1497C>T
ENST00000527168.5:n.517C>T
ENST00000529110.1:c.548C>T
ENST00000529957.5:n.580C>T
NM_032520.4:c.481C>T	NP_115909.1:p.Leu161=
XM_017023782.1:c.529C>T	XP_016879271.1:p.Leu177=
XM_017023783.1:c.121C>T	XP_016879272.1:p.Leu41=
NM_032520.5:c.481C>T MANE Select	NP_115909.1:p.Leu161=