Canonical Allele Identifier: CA394186778

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411883G>A (hg19) ; chr16:g.1361882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361882G>A , CM000678.2:g.1361882G>A	GRCh38
NC_000016.9:g.1411883G>A , CM000678.1:g.1411883G>A	GRCh37
NC_000016.8:g.1351884G>A	NCBI36
NG_016985.1:g.14984G>A
NG_033129.1:g.57823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.343G>A
ENST00000529110.2:c.328G>A	ENSP00000435349.2:p.Glu110Lys
ENST00000529957.6:n.302G>A
ENST00000683366.1:c.189G>A	ENSP00000507283.1:p.Met63Ile
ENST00000683887.1:c.292G>A	ENSP00000506886.1:p.Glu98Lys
ENST00000684100.1:n.238G>A
ENST00000684126.1:n.302G>A
ENST00000684688.1:n.869G>A
ENST00000204679.9:c.244G>A MANE Select	ENSP00000204679.4:p.Glu82Lys
ENST00000204679.8:c.244G>A	ENSP00000204679.4:p.Glu82Lys
ENST00000526820.5:c.*146G>A	ENSP00000434413.1:n.*146G>A
ENST00000527076.1:n.1260G>A
ENST00000527168.5:n.280G>A
ENST00000529110.1:c.311G>A
ENST00000529957.5:n.343G>A
NM_032520.4:c.244G>A	NP_115909.1:p.Glu82Lys
XM_017023782.1:c.292G>A	XP_016879271.1:p.Glu98Lys
XM_017023783.1:c.-117G>A	XP_016879272.1:n.-117G>A
NM_032520.5:c.244G>A MANE Select	NP_115909.1:p.Glu82Lys