Canonical Allele Identifier: CA7807742

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 317885
• ClinVar RCV Id: RCV000331567 ; RCV000892596 ; RCV003957642
• dbSNP Id: rs190614894
• ExAC: 16:1412297 G / A
• gnomAD v2: 16-1412297-G-A
• gnomAD v3: 16-1362296-G-A
• gnomAD v4: 16-1362296-G-A
• COSMIC: COSM5054653
• MyVariant Identifiers: chr16:g.1412297G>A (hg19) ; chr16:g.1362296G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362296G>A , CM000678.2:g.1362296G>A	GRCh38
NC_000016.9:g.1412297G>A , CM000678.1:g.1412297G>A	GRCh37
NC_000016.8:g.1352298G>A	NCBI36
NG_016985.1:g.15398G>A
NG_033129.1:g.57409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.601G>A
ENST00000529110.2:c.586G>A	ENSP00000435349.2:p.Val196Ile
ENST00000529957.6:n.560G>A
ENST00000683366.1:c.*234G>A	ENSP00000507283.1:n.*234G>A
ENST00000683887.1:c.550G>A	ENSP00000506886.1:p.Val184Ile
ENST00000684100.1:n.496G>A
ENST00000684126.1:n.560G>A
ENST00000684688.1:n.1127G>A
ENST00000204679.9:c.502G>A MANE Select	ENSP00000204679.4:p.Val168Ile
ENST00000204679.8:c.502G>A	ENSP00000204679.4:p.Val168Ile
ENST00000527076.1:n.1518G>A
ENST00000527168.5:n.538G>A
ENST00000529957.5:n.601G>A
NM_032520.4:c.502G>A	NP_115909.1:p.Val168Ile
XM_017023782.1:c.550G>A	XP_016879271.1:p.Val184Ile
XM_017023783.1:c.142G>A	XP_016879272.1:p.Val48Ile
NM_032520.5:c.502G>A MANE Select	NP_115909.1:p.Val168Ile