Canonical Allele Identifier: CA7807743

Gene: GNPTG

Linked Data

• dbSNP Id: rs190614894
• ExAC: 16:1412297 G / C
• gnomAD v2: 16-1412297-G-C
• gnomAD v4: 16-1362296-G-C
• MyVariant Identifiers: chr16:g.1412297G>C (hg19) ; chr16:g.1362296G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.601G>C
ENST00000529110.2:c.586G>C	ENSP00000435349.2:p.Val196Leu
ENST00000529957.6:n.560G>C
ENST00000683366.1:c.*234G>C	ENSP00000507283.1:n.*234G>C
ENST00000683887.1:c.550G>C	ENSP00000506886.1:p.Val184Leu
ENST00000684100.1:n.496G>C
ENST00000684126.1:n.560G>C
ENST00000684688.1:n.1127G>C
ENST00000204679.9:c.502G>C MANE Select	ENSP00000204679.4:p.Val168Leu
ENST00000204679.8:c.502G>C	ENSP00000204679.4:p.Val168Leu
ENST00000527076.1:n.1518G>C
ENST00000527168.5:n.538G>C
ENST00000529957.5:n.601G>C
NM_032520.4:c.502G>C	NP_115909.1:p.Val168Leu
XM_017023782.1:c.550G>C	XP_016879271.1:p.Val184Leu
XM_017023783.1:c.142G>C	XP_016879272.1:p.Val48Leu
NM_032520.5:c.502G>C MANE Select	NP_115909.1:p.Val168Leu