Canonical Allele Identifier: CA7807700

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2050017
• ClinVar RCV Id: RCV002937398
• dbSNP Id: rs756379978
• ExAC: 16:1412217 C / T
• gnomAD v2: 16-1412217-C-T
• gnomAD v3: 16-1362216-C-T
• gnomAD v4: 16-1362216-C-T
• MyVariant Identifiers: chr16:g.1412217C>T (hg19) ; chr16:g.1362216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362216C>T , CM000678.2:g.1362216C>T	GRCh38
NC_000016.9:g.1412217C>T , CM000678.1:g.1412217C>T	GRCh37
NC_000016.8:g.1352218C>T	NCBI36
NG_016985.1:g.15318C>T
NG_033129.1:g.57489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.521C>T
ENST00000529110.2:c.506C>T	ENSP00000435349.2:p.Ala169Val
ENST00000529957.6:n.480C>T
ENST00000683366.1:c.*154C>T	ENSP00000507283.1:n.*154C>T
ENST00000683887.1:c.470C>T	ENSP00000506886.1:p.Ala157Val
ENST00000684100.1:n.416C>T
ENST00000684126.1:n.480C>T
ENST00000684688.1:n.1047C>T
ENST00000204679.9:c.422C>T MANE Select	ENSP00000204679.4:p.Ala141Val
ENST00000204679.8:c.422C>T	ENSP00000204679.4:p.Ala141Val
ENST00000527076.1:n.1438C>T
ENST00000527168.5:n.458C>T
ENST00000529110.1:c.489C>T
ENST00000529957.5:n.521C>T
NM_032520.4:c.422C>T	NP_115909.1:p.Ala141Val
XM_017023782.1:c.470C>T	XP_016879271.1:p.Ala157Val
XM_017023783.1:c.62C>T	XP_016879272.1:p.Ala21Val
NM_032520.5:c.422C>T MANE Select	NP_115909.1:p.Ala141Val