Canonical Allele Identifier: CA394188748

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2164295
• ClinVar RCV Id: RCV003087959
• MyVariant Identifiers: chr16:g.1412866G>C (hg19) ; chr16:g.1362865G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362865G>C , CM000678.2:g.1362865G>C	GRCh38
NC_000016.9:g.1412866G>C , CM000678.1:g.1412866G>C	GRCh37
NC_000016.8:g.1352867G>C	NCBI36
NG_016985.1:g.15967G>C
NG_033129.1:g.56840C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.881G>C
ENST00000529110.2:c.866G>C	ENSP00000435349.2:p.Gly289Ala
ENST00000529957.6:n.840G>C
ENST00000683366.1:c.*514G>C	ENSP00000507283.1:n.*514G>C
ENST00000683887.1:c.830G>C	ENSP00000506886.1:p.Gly277Ala
ENST00000684100.1:n.776G>C
ENST00000684126.1:n.916G>C
ENST00000684688.1:n.1407G>C
ENST00000204679.9:c.782G>C MANE Select	ENSP00000204679.4:p.Gly261Ala
ENST00000204679.8:c.782G>C	ENSP00000204679.4:p.Gly261Ala
ENST00000527076.1:n.2005G>C
ENST00000527168.5:n.949G>C
ENST00000529957.5:n.881G>C
NM_032520.4:c.782G>C	NP_115909.1:p.Gly261Ala
XM_017023782.1:c.830G>C	XP_016879271.1:p.Gly277Ala
XM_017023783.1:c.422G>C	XP_016879272.1:p.Gly141Ala
NM_032520.5:c.782G>C MANE Select	NP_115909.1:p.Gly261Ala