Canonical Allele Identifier: CA394188357

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412531C>G (hg19) ; chr16:g.1362530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362530C>G , CM000678.2:g.1362530C>G	GRCh38
NC_000016.9:g.1412531C>G , CM000678.1:g.1412531C>G	GRCh37
NC_000016.8:g.1352532C>G	NCBI36
NG_016985.1:g.15632C>G
NG_033129.1:g.57175G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.704C>G
ENST00000529110.2:c.689C>G	ENSP00000435349.2:p.Pro230Arg
ENST00000529957.6:n.663C>G
ENST00000683366.1:c.*337C>G	ENSP00000507283.1:n.*337C>G
ENST00000683887.1:c.653C>G	ENSP00000506886.1:p.Pro218Arg
ENST00000684100.1:n.599C>G
ENST00000684126.1:n.663C>G
ENST00000684688.1:n.1230C>G
ENST00000204679.9:c.605C>G MANE Select	ENSP00000204679.4:p.Pro202Arg
ENST00000204679.8:c.605C>G	ENSP00000204679.4:p.Pro202Arg
ENST00000527076.1:n.1752C>G
ENST00000527168.5:n.772C>G
ENST00000529957.5:n.704C>G
NM_032520.4:c.605C>G	NP_115909.1:p.Pro202Arg
XM_017023782.1:c.653C>G	XP_016879271.1:p.Pro218Arg
XM_017023783.1:c.245C>G	XP_016879272.1:p.Pro82Arg
NM_032520.5:c.605C>G MANE Select	NP_115909.1:p.Pro202Arg