Canonical Allele Identifier: CA394188713

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412850A>G (hg19) ; chr16:g.1362849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362849A>G , CM000678.2:g.1362849A>G	GRCh38
NC_000016.9:g.1412850A>G , CM000678.1:g.1412850A>G	GRCh37
NC_000016.8:g.1352851A>G	NCBI36
NG_016985.1:g.15951A>G
NG_033129.1:g.56856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.865A>G
ENST00000529110.2:c.850A>G	ENSP00000435349.2:p.Ile284Val
ENST00000529957.6:n.824A>G
ENST00000683366.1:c.*498A>G	ENSP00000507283.1:n.*498A>G
ENST00000683887.1:c.814A>G	ENSP00000506886.1:p.Ile272Val
ENST00000684100.1:n.760A>G
ENST00000684126.1:n.900A>G
ENST00000684688.1:n.1391A>G
ENST00000204679.9:c.766A>G MANE Select	ENSP00000204679.4:p.Ile256Val
ENST00000204679.8:c.766A>G	ENSP00000204679.4:p.Ile256Val
ENST00000527076.1:n.1989A>G
ENST00000527168.5:n.933A>G
ENST00000529957.5:n.865A>G
NM_032520.4:c.766A>G	NP_115909.1:p.Ile256Val
XM_017023782.1:c.814A>G	XP_016879271.1:p.Ile272Val
XM_017023783.1:c.406A>G	XP_016879272.1:p.Ile136Val
NM_032520.5:c.766A>G MANE Select	NP_115909.1:p.Ile256Val