Canonical Allele Identifier: CA7807576

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1912795
• ClinVar RCV Id: RCV002581499
• dbSNP Id: rs764395288
• ExAC: 16:1411904 G / A
• gnomAD v2: 16-1411904-G-A
• gnomAD v3: 16-1361903-G-A
• gnomAD v4: 16-1361903-G-A
• COSMIC: COSM1375956
• MyVariant Identifiers: chr16:g.1411904G>A (hg19) ; chr16:g.1361903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361903G>A , CM000678.2:g.1361903G>A	GRCh38
NC_000016.9:g.1411904G>A , CM000678.1:g.1411904G>A	GRCh37
NC_000016.8:g.1351905G>A	NCBI36
NG_016985.1:g.15005G>A
NG_033129.1:g.57802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.364G>A
ENST00000529110.2:c.349G>A	ENSP00000435349.2:p.Val117Met
ENST00000529957.6:n.323G>A
ENST00000683366.1:c.210G>A	ENSP00000507283.1:p.Thr70=
ENST00000683887.1:c.313G>A	ENSP00000506886.1:p.Val105Met
ENST00000684100.1:n.259G>A
ENST00000684126.1:n.323G>A
ENST00000684688.1:n.890G>A
ENST00000204679.9:c.265G>A MANE Select	ENSP00000204679.4:p.Val89Met
ENST00000204679.8:c.265G>A	ENSP00000204679.4:p.Val89Met
ENST00000526820.5:c.*167G>A	ENSP00000434413.1:n.*167G>A
ENST00000527076.1:n.1281G>A
ENST00000527168.5:n.301G>A
ENST00000529110.1:c.332G>A
ENST00000529957.5:n.364G>A
NM_032520.4:c.265G>A	NP_115909.1:p.Val89Met
XM_017023782.1:c.313G>A	XP_016879271.1:p.Val105Met
XM_017023783.1:c.-96G>A	XP_016879272.1:n.-96G>A
NM_032520.5:c.265G>A MANE Select	NP_115909.1:p.Val89Met