Canonical Allele Identifier: CA493026556

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1080944
• ClinVar RCV Id: RCV001396773
• dbSNP Id: rs1727079911
• gnomAD v4: 16-1362298-C-G
• MyVariant Identifiers: chr16:g.1412299C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362298C>G , CM000678.2:g.1362298C>G	GRCh38
NC_000016.9:g.1412299C>G , CM000678.1:g.1412299C>G	GRCh37
NC_000016.8:g.1352300C>G	NCBI36
NG_016985.1:g.15400C>G
NG_033129.1:g.57407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.603C>G
ENST00000529110.2:c.588C>G	ENSP00000435349.2:p.Val196=
ENST00000529957.6:n.562C>G
ENST00000683366.1:c.*236C>G	ENSP00000507283.1:n.*236C>G
ENST00000683887.1:c.552C>G	ENSP00000506886.1:p.Val184=
ENST00000684100.1:n.498C>G
ENST00000684126.1:n.562C>G
ENST00000684688.1:n.1129C>G
ENST00000204679.9:c.504C>G MANE Select	ENSP00000204679.4:p.Val168=
ENST00000204679.8:c.504C>G	ENSP00000204679.4:p.Val168=
ENST00000527076.1:n.1520C>G
ENST00000527168.5:n.540C>G
ENST00000529957.5:n.603C>G
NM_032520.4:c.504C>G	NP_115909.1:p.Val168=
XM_017023782.1:c.552C>G	XP_016879271.1:p.Val184=
XM_017023783.1:c.144C>G	XP_016879272.1:p.Val48=
NM_032520.5:c.504C>G MANE Select	NP_115909.1:p.Val168=