Canonical Allele Identifier: CA394188683

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 557574
• ClinVar RCV Id: RCV000673731 ; RCV003660829
• dbSNP Id: rs1555452081
• gnomAD v4: 16-1362834-G-T
• COSMIC: COSM4058425
• MyVariant Identifiers: chr16:g.1412835G>T (hg19) ; chr16:g.1362834G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362834G>T , CM000678.2:g.1362834G>T	GRCh38
NC_000016.9:g.1412835G>T , CM000678.1:g.1412835G>T	GRCh37
NC_000016.8:g.1352836G>T	NCBI36
NG_016985.1:g.15936G>T
NG_033129.1:g.56871C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.850G>T
ENST00000529110.2:c.835G>T	ENSP00000435349.2:p.Glu279Ter
ENST00000529957.6:n.809G>T
ENST00000683366.1:c.*483G>T	ENSP00000507283.1:n.*483G>T
ENST00000683887.1:c.799G>T	ENSP00000506886.1:p.Glu267Ter
ENST00000684100.1:n.745G>T
ENST00000684126.1:n.885G>T
ENST00000684688.1:n.1376G>T
ENST00000204679.9:c.751G>T MANE Select	ENSP00000204679.4:p.Glu251Ter
ENST00000204679.8:c.751G>T	ENSP00000204679.4:p.Glu251Ter
ENST00000527076.1:n.1974G>T
ENST00000527168.5:n.918G>T
ENST00000529957.5:n.850G>T
NM_032520.4:c.751G>T	NP_115909.1:p.Glu251Ter
XM_017023782.1:c.799G>T	XP_016879271.1:p.Glu267Ter
XM_017023783.1:c.391G>T	XP_016879272.1:p.Glu131Ter
NM_032520.5:c.751G>T MANE Select	NP_115909.1:p.Glu251Ter