Canonical Allele Identifier: CA394188698

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362843-A-G
• MyVariant Identifiers: chr16:g.1412844A>G (hg19) ; chr16:g.1362843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362843A>G , CM000678.2:g.1362843A>G	GRCh38
NC_000016.9:g.1412844A>G , CM000678.1:g.1412844A>G	GRCh37
NC_000016.8:g.1352845A>G	NCBI36
NG_016985.1:g.15945A>G
NG_033129.1:g.56862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.859A>G
ENST00000529110.2:c.844A>G	ENSP00000435349.2:p.Lys282Glu
ENST00000529957.6:n.818A>G
ENST00000683366.1:c.*492A>G	ENSP00000507283.1:n.*492A>G
ENST00000683887.1:c.808A>G	ENSP00000506886.1:p.Lys270Glu
ENST00000684100.1:n.754A>G
ENST00000684126.1:n.894A>G
ENST00000684688.1:n.1385A>G
ENST00000204679.9:c.760A>G MANE Select	ENSP00000204679.4:p.Lys254Glu
ENST00000204679.8:c.760A>G	ENSP00000204679.4:p.Lys254Glu
ENST00000527076.1:n.1983A>G
ENST00000527168.5:n.927A>G
ENST00000529957.5:n.859A>G
NM_032520.4:c.760A>G	NP_115909.1:p.Lys254Glu
XM_017023782.1:c.808A>G	XP_016879271.1:p.Lys270Glu
XM_017023783.1:c.400A>G	XP_016879272.1:p.Lys134Glu
NM_032520.5:c.760A>G MANE Select	NP_115909.1:p.Lys254Glu