Canonical Allele Identifier: CA394187597

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412212G>C (hg19) ; chr16:g.1362211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362211G>C , CM000678.2:g.1362211G>C	GRCh38
NC_000016.9:g.1412212G>C , CM000678.1:g.1412212G>C	GRCh37
NC_000016.8:g.1352213G>C	NCBI36
NG_016985.1:g.15313G>C
NG_033129.1:g.57494C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.516G>C
ENST00000529110.2:c.501G>C	ENSP00000435349.2:p.Glu167Asp
ENST00000529957.6:n.475G>C
ENST00000683366.1:c.*149G>C	ENSP00000507283.1:n.*149G>C
ENST00000683887.1:c.465G>C	ENSP00000506886.1:p.Glu155Asp
ENST00000684100.1:n.411G>C
ENST00000684126.1:n.475G>C
ENST00000684688.1:n.1042G>C
ENST00000204679.9:c.417G>C MANE Select	ENSP00000204679.4:p.Glu139Asp
ENST00000204679.8:c.417G>C	ENSP00000204679.4:p.Glu139Asp
ENST00000527076.1:n.1433G>C
ENST00000527168.5:n.453G>C
ENST00000529110.1:c.484G>C
ENST00000529957.5:n.516G>C
NM_032520.4:c.417G>C	NP_115909.1:p.Glu139Asp
XM_017023782.1:c.465G>C	XP_016879271.1:p.Glu155Asp
XM_017023783.1:c.57G>C	XP_016879272.1:p.Glu19Asp
NM_032520.5:c.417G>C MANE Select	NP_115909.1:p.Glu139Asp