Canonical Allele Identifier: CA394188782

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412886A>G (hg19) ; chr16:g.1362885A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362885A>G , CM000678.2:g.1362885A>G	GRCh38
NC_000016.9:g.1412886A>G , CM000678.1:g.1412886A>G	GRCh37
NC_000016.8:g.1352887A>G	NCBI36
NG_016985.1:g.15987A>G
NG_033129.1:g.56820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.901A>G
ENST00000529110.2:c.886A>G	ENSP00000435349.2:p.Ile296Val
ENST00000529957.6:n.860A>G
ENST00000683366.1:c.*534A>G	ENSP00000507283.1:n.*534A>G
ENST00000683887.1:c.850A>G	ENSP00000506886.1:p.Ile284Val
ENST00000684100.1:n.796A>G
ENST00000684126.1:n.936A>G
ENST00000684688.1:n.1427A>G
ENST00000204679.9:c.802A>G MANE Select	ENSP00000204679.4:p.Ile268Val
ENST00000204679.8:c.802A>G	ENSP00000204679.4:p.Ile268Val
ENST00000527076.1:n.2025A>G
ENST00000527168.5:n.969A>G
ENST00000529957.5:n.901A>G
NM_032520.4:c.802A>G	NP_115909.1:p.Ile268Val
XM_017023782.1:c.850A>G	XP_016879271.1:p.Ile284Val
XM_017023783.1:c.442A>G	XP_016879272.1:p.Ile148Val
NM_032520.5:c.802A>G MANE Select	NP_115909.1:p.Ile268Val