Canonical Allele Identifier: CA7807745

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1112236
• ClinVar RCV Id: RCV001439159
• dbSNP Id: rs779213852
• ExAC: 16:1412308 C / T
• gnomAD v2: 16-1412308-C-T
• gnomAD v3: 16-1362307-C-T
• gnomAD v4: 16-1362307-C-T
• MyVariant Identifiers: chr16:g.1412308C>T (hg19) ; chr16:g.1362307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362307C>T , CM000678.2:g.1362307C>T	GRCh38
NC_000016.9:g.1412308C>T , CM000678.1:g.1412308C>T	GRCh37
NC_000016.8:g.1352309C>T	NCBI36
NG_016985.1:g.15409C>T
NG_033129.1:g.57398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.612C>T
ENST00000529110.2:c.597C>T	ENSP00000435349.2:p.Pro199=
ENST00000529957.6:n.571C>T
ENST00000683366.1:c.*245C>T	ENSP00000507283.1:n.*245C>T
ENST00000683887.1:c.561C>T	ENSP00000506886.1:p.Pro187=
ENST00000684100.1:n.507C>T
ENST00000684126.1:n.571C>T
ENST00000684688.1:n.1138C>T
ENST00000204679.9:c.513C>T MANE Select	ENSP00000204679.4:p.Pro171=
ENST00000204679.8:c.513C>T	ENSP00000204679.4:p.Pro171=
ENST00000527076.1:n.1529C>T
ENST00000527168.5:n.549C>T
ENST00000529957.5:n.612C>T
NM_032520.4:c.513C>T	NP_115909.1:p.Pro171=
XM_017023782.1:c.561C>T	XP_016879271.1:p.Pro187=
XM_017023783.1:c.153C>T	XP_016879272.1:p.Pro51=
NM_032520.5:c.513C>T MANE Select	NP_115909.1:p.Pro171=