Canonical Allele Identifier: CA7807713

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1437857
• ClinVar RCV Id: RCV001965044
• dbSNP Id: rs754679713
• ExAC: 16:1412256 C / T
• gnomAD v2: 16-1412256-C-T
• gnomAD v3: 16-1362255-C-T
• gnomAD v4: 16-1362255-C-T
• MyVariant Identifiers: chr16:g.1412256C>T (hg19) ; chr16:g.1362255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362255C>T , CM000678.2:g.1362255C>T	GRCh38
NC_000016.9:g.1412256C>T , CM000678.1:g.1412256C>T	GRCh37
NC_000016.8:g.1352257C>T	NCBI36
NG_016985.1:g.15357C>T
NG_033129.1:g.57450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.560C>T
ENST00000529110.2:c.545C>T	ENSP00000435349.2:p.Pro182Leu
ENST00000529957.6:n.519C>T
ENST00000683366.1:c.*193C>T	ENSP00000507283.1:n.*193C>T
ENST00000683887.1:c.509C>T	ENSP00000506886.1:p.Pro170Leu
ENST00000684100.1:n.455C>T
ENST00000684126.1:n.519C>T
ENST00000684688.1:n.1086C>T
ENST00000204679.9:c.461C>T MANE Select	ENSP00000204679.4:p.Pro154Leu
ENST00000204679.8:c.461C>T	ENSP00000204679.4:p.Pro154Leu
ENST00000527076.1:n.1477C>T
ENST00000527168.5:n.497C>T
ENST00000529110.1:c.528C>T
ENST00000529957.5:n.560C>T
NM_032520.4:c.461C>T	NP_115909.1:p.Pro154Leu
XM_017023782.1:c.509C>T	XP_016879271.1:p.Pro170Leu
XM_017023783.1:c.101C>T	XP_016879272.1:p.Pro34Leu
NM_032520.5:c.461C>T MANE Select	NP_115909.1:p.Pro154Leu