Canonical Allele Identifier: CA7807799

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 841944
• ClinVar RCV Id: RCV001044265 ; RCV001827271
• dbSNP Id: rs776105074
• ExAC: 16:1412464 C / G
• gnomAD v2: 16-1412464-C-G
• gnomAD v3: 16-1362463-C-G
• gnomAD v4: 16-1362463-C-G
• MyVariant Identifiers: chr16:g.1412464C>G (hg19) ; chr16:g.1362463C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362463C>G , CM000678.2:g.1362463C>G	GRCh38
NC_000016.9:g.1412464C>G , CM000678.1:g.1412464C>G	GRCh37
NC_000016.8:g.1352465C>G	NCBI36
NG_016985.1:g.15565C>G
NG_033129.1:g.57242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.637C>G
ENST00000529110.2:c.622C>G	ENSP00000435349.2:p.Leu208Val
ENST00000529957.6:n.596C>G
ENST00000683366.1:c.*270C>G	ENSP00000507283.1:n.*270C>G
ENST00000683887.1:c.586C>G	ENSP00000506886.1:p.Leu196Val
ENST00000684100.1:n.532C>G
ENST00000684126.1:n.596C>G
ENST00000684688.1:n.1163C>G
ENST00000204679.9:c.538C>G MANE Select	ENSP00000204679.4:p.Leu180Val
ENST00000204679.8:c.538C>G	ENSP00000204679.4:p.Leu180Val
ENST00000527076.1:n.1685C>G
ENST00000527168.5:n.705C>G
ENST00000529957.5:n.637C>G
NM_032520.4:c.538C>G	NP_115909.1:p.Leu180Val
XM_017023782.1:c.586C>G	XP_016879271.1:p.Leu196Val
XM_017023783.1:c.178C>G	XP_016879272.1:p.Leu60Val
NM_032520.5:c.538C>G MANE Select	NP_115909.1:p.Leu180Val