Canonical Allele Identifier: CA394187911

Gene: GNPTG

Linked Data

• dbSNP Id: rs764053747
• gnomAD v4: 16-1362293-C-G
• MyVariant Identifiers: chr16:g.1412294C>G (hg19) ; chr16:g.1362293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362293C>G , CM000678.2:g.1362293C>G	GRCh38
NC_000016.9:g.1412294C>G , CM000678.1:g.1412294C>G	GRCh37
NC_000016.8:g.1352295C>G	NCBI36
NG_016985.1:g.15395C>G
NG_033129.1:g.57412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.598C>G
ENST00000529110.2:c.583C>G	ENSP00000435349.2:p.Leu195Val
ENST00000529957.6:n.557C>G
ENST00000683366.1:c.*231C>G	ENSP00000507283.1:n.*231C>G
ENST00000683887.1:c.547C>G	ENSP00000506886.1:p.Leu183Val
ENST00000684100.1:n.493C>G
ENST00000684126.1:n.557C>G
ENST00000684688.1:n.1124C>G
ENST00000204679.9:c.499C>G MANE Select	ENSP00000204679.4:p.Leu167Val
ENST00000204679.8:c.499C>G	ENSP00000204679.4:p.Leu167Val
ENST00000527076.1:n.1515C>G
ENST00000527168.5:n.535C>G
ENST00000529957.5:n.598C>G
NM_032520.4:c.499C>G	NP_115909.1:p.Leu167Val
XM_017023782.1:c.547C>G	XP_016879271.1:p.Leu183Val
XM_017023783.1:c.139C>G	XP_016879272.1:p.Leu47Val
NM_032520.5:c.499C>G MANE Select	NP_115909.1:p.Leu167Val