Canonical Allele Identifier: CA7807729

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1051934
• ClinVar RCV Id: RCV001360036
• dbSNP Id: rs766647003
• ExAC: 16:1412285 G / A
• gnomAD v2: 16-1412285-G-A
• gnomAD v3: 16-1362284-G-A
• gnomAD v4: 16-1362284-G-A
• MyVariant Identifiers: chr16:g.1412285G>A (hg19) ; chr16:g.1362284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362284G>A , CM000678.2:g.1362284G>A	GRCh38
NC_000016.9:g.1412285G>A , CM000678.1:g.1412285G>A	GRCh37
NC_000016.8:g.1352286G>A	NCBI36
NG_016985.1:g.15386G>A
NG_033129.1:g.57421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.589G>A
ENST00000529110.2:c.574G>A	ENSP00000435349.2:p.Glu192Lys
ENST00000529957.6:n.548G>A
ENST00000683366.1:c.*222G>A	ENSP00000507283.1:n.*222G>A
ENST00000683887.1:c.538G>A	ENSP00000506886.1:p.Glu180Lys
ENST00000684100.1:n.484G>A
ENST00000684126.1:n.548G>A
ENST00000684688.1:n.1115G>A
ENST00000204679.9:c.490G>A MANE Select	ENSP00000204679.4:p.Glu164Lys
ENST00000204679.8:c.490G>A	ENSP00000204679.4:p.Glu164Lys
ENST00000527076.1:n.1506G>A
ENST00000527168.5:n.526G>A
ENST00000529957.5:n.589G>A
NM_032520.4:c.490G>A	NP_115909.1:p.Glu164Lys
XM_017023782.1:c.538G>A	XP_016879271.1:p.Glu180Lys
XM_017023783.1:c.130G>A	XP_016879272.1:p.Glu44Lys
NM_032520.5:c.490G>A MANE Select	NP_115909.1:p.Glu164Lys