Canonical Allele Identifier: CA493026484

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2187018
• ClinVar RCV Id: RCV002611282
• dbSNP Id: rs530486639
• gnomAD v4: 16-1362217-G-T
• MyVariant Identifiers: chr16:g.1412218G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362217G>T , CM000678.2:g.1362217G>T	GRCh38
NC_000016.9:g.1412218G>T , CM000678.1:g.1412218G>T	GRCh37
NC_000016.8:g.1352219G>T	NCBI36
NG_016985.1:g.15319G>T
NG_033129.1:g.57488C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.522G>T
ENST00000529110.2:c.507G>T	ENSP00000435349.2:p.Ala169=
ENST00000529957.6:n.481G>T
ENST00000683366.1:c.*155G>T	ENSP00000507283.1:n.*155G>T
ENST00000683887.1:c.471G>T	ENSP00000506886.1:p.Ala157=
ENST00000684100.1:n.417G>T
ENST00000684126.1:n.481G>T
ENST00000684688.1:n.1048G>T
ENST00000204679.9:c.423G>T MANE Select	ENSP00000204679.4:p.Ala141=
ENST00000204679.8:c.423G>T	ENSP00000204679.4:p.Ala141=
ENST00000527076.1:n.1439G>T
ENST00000527168.5:n.459G>T
ENST00000529110.1:c.490G>T
ENST00000529957.5:n.522G>T
NM_032520.4:c.423G>T	NP_115909.1:p.Ala141=
XM_017023782.1:c.471G>T	XP_016879271.1:p.Ala157=
XM_017023783.1:c.63G>T	XP_016879272.1:p.Ala21=
NM_032520.5:c.423G>T MANE Select	NP_115909.1:p.Ala141=