Canonical Allele Identifier: CA7807711

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1147622
• ClinVar RCV Id: RCV001487233
• dbSNP Id: rs760954235
• ExAC: 16:1412251 C / G
• gnomAD v2: 16-1412251-C-G
• gnomAD v4: 16-1362250-C-G
• MyVariant Identifiers: chr16:g.1412251C>G (hg19) ; chr16:g.1362250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362250C>G , CM000678.2:g.1362250C>G	GRCh38
NC_000016.9:g.1412251C>G , CM000678.1:g.1412251C>G	GRCh37
NC_000016.8:g.1352252C>G	NCBI36
NG_016985.1:g.15352C>G
NG_033129.1:g.57455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.555C>G
ENST00000529110.2:c.540C>G	ENSP00000435349.2:p.Ser180=
ENST00000529957.6:n.514C>G
ENST00000683366.1:c.*188C>G	ENSP00000507283.1:n.*188C>G
ENST00000683887.1:c.504C>G	ENSP00000506886.1:p.Ser168=
ENST00000684100.1:n.450C>G
ENST00000684126.1:n.514C>G
ENST00000684688.1:n.1081C>G
ENST00000204679.9:c.456C>G MANE Select	ENSP00000204679.4:p.Ser152=
ENST00000204679.8:c.456C>G	ENSP00000204679.4:p.Ser152=
ENST00000527076.1:n.1472C>G
ENST00000527168.5:n.492C>G
ENST00000529110.1:c.523C>G
ENST00000529957.5:n.555C>G
NM_032520.4:c.456C>G	NP_115909.1:p.Ser152=
XM_017023782.1:c.504C>G	XP_016879271.1:p.Ser168=
XM_017023783.1:c.96C>G	XP_016879272.1:p.Ser32=
NM_032520.5:c.456C>G MANE Select	NP_115909.1:p.Ser152=