Canonical Allele Identifier: CA20999108

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2014606
• ClinVar RCV Id: RCV002830125
• dbSNP Id: rs1031494186
• gnomAD v2: 1-40539781-C-T
• gnomAD v4: 1-40074109-C-T
• MyVariant Identifiers: chr1:g.40539781C>T (hg19) ; chr1:g.40074109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074109C>T , CM000663.2:g.40074109C>T	GRCh38
NC_000001.10:g.40539781C>T , CM000663.1:g.40539781C>T	GRCh37
NC_000001.9:g.40312368C>T	NCBI36
NG_009192.1:g.28362G>A , LRG_690:g.28362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.870G>A	ENSP00000394863.4:p.Gln290=
ENST00000439754.6:c.801G>A	ENSP00000403207.2:p.Gln267=
ENST00000449045.7:c.564G>A	ENSP00000392293.2:p.Gln188=
ENST00000530076.6:c.216G>A	ENSP00000434007.1:p.Gln72=
ENST00000530704.6:c.*496G>A	ENSP00000431655.1:n.*496G>A
ENST00000641083.1:c.963G>A
ENST00000641236.1:n.1110G>A
ENST00000641319.1:c.*83G>A	ENSP00000493128.1:n.*83G>A
ENST00000641381.1:c.295G>A
ENST00000641471.1:c.960G>A	ENSP00000493146.1:p.Gln320=
ENST00000641691.1:c.*725G>A	ENSP00000492910.1:n.*725G>A
ENST00000641924.1:c.*302G>A	ENSP00000493063.1:n.*302G>A
ENST00000642050.2:c.873G>A MANE Select	ENSP00000493153.1:p.Gln291=
ENST00000372775.2:n.270G>A
ENST00000433473.7:c.873G>A	ENSP00000394863.3:p.Gln291=
ENST00000439754.5:c.486G>A	ENSP00000403207.1:p.Gln162=
ENST00000449045.6:c.564G>A	ENSP00000392293.2:p.Gln188=
ENST00000529905.5:c.873G>A	ENSP00000432053.1:p.Gln291=
ENST00000530076.5:c.216G>A	ENSP00000434007.1:p.Gln72=
ENST00000530704.5:c.*496G>A	ENSP00000431655.1:n.*496G>A
NM_000310.3:c.873G>A , LRG_690t1:c.873G>A	NP_000301.1:p.Gln291=
NM_001142604.1:c.564G>A	NP_001136076.1:p.Gln188=
XM_005271008.1:c.801G>A	XP_005271065.1:p.Gln267=
NM_001363695.1:c.801G>A	NP_001350624.1:p.Gln267=
NM_000310.4:c.873G>A MANE Select	NP_000301.1:p.Gln291=
NM_001142604.2:c.564G>A	NP_001136076.1:p.Gln188=
NM_001363695.2:c.801G>A	NP_001350624.1:p.Gln267=