Canonical Allele Identifier: CA493026577

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362319-A-G
• MyVariant Identifiers: chr16:g.1412320A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362319A>G , CM000678.2:g.1362319A>G	GRCh38
NC_000016.9:g.1412320A>G , CM000678.1:g.1412320A>G	GRCh37
NC_000016.8:g.1352321A>G	NCBI36
NG_016985.1:g.15421A>G
NG_033129.1:g.57386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.624A>G
ENST00000529110.2:c.609A>G	ENSP00000435349.2:p.Leu203=
ENST00000529957.6:n.583A>G
ENST00000683366.1:c.*257A>G	ENSP00000507283.1:n.*257A>G
ENST00000683887.1:c.573A>G	ENSP00000506886.1:p.Leu191=
ENST00000684100.1:n.519A>G
ENST00000684126.1:n.583A>G
ENST00000684688.1:n.1150A>G
ENST00000204679.9:c.525A>G MANE Select	ENSP00000204679.4:p.Leu175=
ENST00000204679.8:c.525A>G	ENSP00000204679.4:p.Leu175=
ENST00000527076.1:n.1541A>G
ENST00000527168.5:n.561A>G
ENST00000529957.5:n.624A>G
NM_032520.4:c.525A>G	NP_115909.1:p.Leu175=
XM_017023782.1:c.573A>G	XP_016879271.1:p.Leu191=
XM_017023783.1:c.165A>G	XP_016879272.1:p.Leu55=
NM_032520.5:c.525A>G MANE Select	NP_115909.1:p.Leu175=