Canonical Allele Identifier: CA7807856

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1142646
• ClinVar RCV Id: RCV001480530
• dbSNP Id: rs780930809
• ExAC: 16:1412629 G / A
• gnomAD v2: 16-1412629-G-A
• gnomAD v3: 16-1362628-G-A
• gnomAD v4: 16-1362628-G-A
• MyVariant Identifiers: chr16:g.1412629G>A (hg19) ; chr16:g.1362628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362628G>A , CM000678.2:g.1362628G>A	GRCh38
NC_000016.9:g.1412629G>A , CM000678.1:g.1412629G>A	GRCh37
NC_000016.8:g.1352630G>A	NCBI36
NG_016985.1:g.15730G>A
NG_033129.1:g.57077C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.726G>A
ENST00000529110.2:c.711G>A	ENSP00000435349.2:p.Leu237=
ENST00000529957.6:n.685G>A
ENST00000683366.1:c.*359G>A	ENSP00000507283.1:n.*359G>A
ENST00000683887.1:c.675G>A	ENSP00000506886.1:p.Leu225=
ENST00000684100.1:n.621G>A
ENST00000684126.1:n.761G>A
ENST00000684688.1:n.1252G>A
ENST00000204679.9:c.627G>A MANE Select	ENSP00000204679.4:p.Leu209=
ENST00000204679.8:c.627G>A	ENSP00000204679.4:p.Leu209=
ENST00000527076.1:n.1850G>A
ENST00000527168.5:n.794G>A
ENST00000529957.5:n.726G>A
NM_032520.4:c.627G>A	NP_115909.1:p.Leu209=
XM_017023782.1:c.675G>A	XP_016879271.1:p.Leu225=
XM_017023783.1:c.267G>A	XP_016879272.1:p.Leu89=
NM_032520.5:c.627G>A MANE Select	NP_115909.1:p.Leu209=