Canonical Allele Identifier: CA493026633

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2026609
• ClinVar RCV Id: RCV002871448
• MyVariant Identifiers: chr16:g.1412532C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362531C>G , CM000678.2:g.1362531C>G	GRCh38
NC_000016.9:g.1412532C>G , CM000678.1:g.1412532C>G	GRCh37
NC_000016.8:g.1352533C>G	NCBI36
NG_016985.1:g.15633C>G
NG_033129.1:g.57174G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.705C>G
ENST00000529110.2:c.690C>G	ENSP00000435349.2:p.Pro230=
ENST00000529957.6:n.664C>G
ENST00000683366.1:c.*338C>G	ENSP00000507283.1:n.*338C>G
ENST00000683887.1:c.654C>G	ENSP00000506886.1:p.Pro218=
ENST00000684100.1:n.600C>G
ENST00000684126.1:n.664C>G
ENST00000684688.1:n.1231C>G
ENST00000204679.9:c.606C>G MANE Select	ENSP00000204679.4:p.Pro202=
ENST00000204679.8:c.606C>G	ENSP00000204679.4:p.Pro202=
ENST00000527076.1:n.1753C>G
ENST00000527168.5:n.773C>G
ENST00000529957.5:n.705C>G
NM_032520.4:c.606C>G	NP_115909.1:p.Pro202=
XM_017023782.1:c.654C>G	XP_016879271.1:p.Pro218=
XM_017023783.1:c.246C>G	XP_016879272.1:p.Pro82=
NM_032520.5:c.606C>G MANE Select	NP_115909.1:p.Pro202=