Canonical Allele Identifier: CA394188532

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412687C>G (hg19) ; chr16:g.1362686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362686C>G , CM000678.2:g.1362686C>G	GRCh38
NC_000016.9:g.1412687C>G , CM000678.1:g.1412687C>G	GRCh37
NC_000016.8:g.1352688C>G	NCBI36
NG_016985.1:g.15788C>G
NG_033129.1:g.57019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.784C>G
ENST00000529110.2:c.769C>G	ENSP00000435349.2:p.Gln257Glu
ENST00000529957.6:n.743C>G
ENST00000683366.1:c.*417C>G	ENSP00000507283.1:n.*417C>G
ENST00000683887.1:c.733C>G	ENSP00000506886.1:p.Gln245Glu
ENST00000684100.1:n.679C>G
ENST00000684126.1:n.819C>G
ENST00000684688.1:n.1310C>G
ENST00000204679.9:c.685C>G MANE Select	ENSP00000204679.4:p.Gln229Glu
ENST00000204679.8:c.685C>G	ENSP00000204679.4:p.Gln229Glu
ENST00000527076.1:n.1908C>G
ENST00000527168.5:n.852C>G
ENST00000529957.5:n.784C>G
NM_032520.4:c.685C>G	NP_115909.1:p.Gln229Glu
XM_017023782.1:c.733C>G	XP_016879271.1:p.Gln245Glu
XM_017023783.1:c.325C>G	XP_016879272.1:p.Gln109Glu
NM_032520.5:c.685C>G MANE Select	NP_115909.1:p.Gln229Glu