Canonical Allele Identifier: CA493026630

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1115336
• ClinVar RCV Id: RCV001443327
• dbSNP Id: rs2034919775
• gnomAD v4: 16-1362525-C-T
• MyVariant Identifiers: chr16:g.1412526C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362525C>T , CM000678.2:g.1362525C>T	GRCh38
NC_000016.9:g.1412526C>T , CM000678.1:g.1412526C>T	GRCh37
NC_000016.8:g.1352527C>T	NCBI36
NG_016985.1:g.15627C>T
NG_033129.1:g.57180G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.699C>T
ENST00000529110.2:c.684C>T	ENSP00000435349.2:p.Ile228=
ENST00000529957.6:n.658C>T
ENST00000683366.1:c.*332C>T	ENSP00000507283.1:n.*332C>T
ENST00000683887.1:c.648C>T	ENSP00000506886.1:p.Ile216=
ENST00000684100.1:n.594C>T
ENST00000684126.1:n.658C>T
ENST00000684688.1:n.1225C>T
ENST00000204679.9:c.600C>T MANE Select	ENSP00000204679.4:p.Ile200=
ENST00000204679.8:c.600C>T	ENSP00000204679.4:p.Ile200=
ENST00000527076.1:n.1747C>T
ENST00000527168.5:n.767C>T
ENST00000529957.5:n.699C>T
NM_032520.4:c.600C>T	NP_115909.1:p.Ile200=
XM_017023782.1:c.648C>T	XP_016879271.1:p.Ile216=
XM_017023783.1:c.240C>T	XP_016879272.1:p.Ile80=
NM_032520.5:c.600C>T MANE Select	NP_115909.1:p.Ile200=