Canonical Allele Identifier: CA394187644

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412222G>C (hg19) ; chr16:g.1362221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362221G>C , CM000678.2:g.1362221G>C	GRCh38
NC_000016.9:g.1412222G>C , CM000678.1:g.1412222G>C	GRCh37
NC_000016.8:g.1352223G>C	NCBI36
NG_016985.1:g.15323G>C
NG_033129.1:g.57484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.526G>C
ENST00000529110.2:c.511G>C	ENSP00000435349.2:p.Gly171Arg
ENST00000529957.6:n.485G>C
ENST00000683366.1:c.*159G>C	ENSP00000507283.1:n.*159G>C
ENST00000683887.1:c.475G>C	ENSP00000506886.1:p.Gly159Arg
ENST00000684100.1:n.421G>C
ENST00000684126.1:n.485G>C
ENST00000684688.1:n.1052G>C
ENST00000204679.9:c.427G>C MANE Select	ENSP00000204679.4:p.Gly143Arg
ENST00000204679.8:c.427G>C	ENSP00000204679.4:p.Gly143Arg
ENST00000527076.1:n.1443G>C
ENST00000527168.5:n.463G>C
ENST00000529110.1:c.494G>C
ENST00000529957.5:n.526G>C
NM_032520.4:c.427G>C	NP_115909.1:p.Gly143Arg
XM_017023782.1:c.475G>C	XP_016879271.1:p.Gly159Arg
XM_017023783.1:c.67G>C	XP_016879272.1:p.Gly23Arg
NM_032520.5:c.427G>C MANE Select	NP_115909.1:p.Gly143Arg