Canonical Allele Identifier: CA417322221

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2040525
• ClinVar RCV Id: RCV002886462
• gnomAD v4: 1-40078617-C-T
• MyVariant Identifiers: chr1:g.40544289C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078617C>T , CM000663.2:g.40078617C>T	GRCh38
NC_000001.10:g.40544289C>T , CM000663.1:g.40544289C>T	GRCh37
NC_000001.9:g.40316876C>T	NCBI36
NG_009192.1:g.23854G>A , LRG_690:g.23854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.666G>A	ENSP00000394863.4:p.Lys222=
ENST00000439754.6:c.669G>A	ENSP00000403207.2:p.Lys223=
ENST00000449045.7:c.360G>A	ENSP00000392293.2:p.Lys120=
ENST00000527311.7:c.438G>A	ENSP00000436695.3:p.Lys146=
ENST00000530076.6:c.12G>A	ENSP00000434007.1:p.Lys4=
ENST00000530704.6:c.*292G>A	ENSP00000431655.1:n.*292G>A
ENST00000641083.1:c.647G>A
ENST00000641236.1:n.906G>A
ENST00000641319.1:c.669G>A	ENSP00000493128.1:p.Lys223=
ENST00000641381.1:c.149-1704G>A
ENST00000641471.1:c.756G>A	ENSP00000493146.1:p.Lys252=
ENST00000641691.1:c.*521G>A	ENSP00000492910.1:n.*521G>A
ENST00000641924.1:c.*98G>A	ENSP00000493063.1:n.*98G>A
ENST00000642050.2:c.669G>A MANE Select	ENSP00000493153.1:p.Lys223=
ENST00000372775.2:n.66G>A
ENST00000372779.8:c.756G>A	ENSP00000361865.4:p.Lys252=
ENST00000433473.7:c.669G>A	ENSP00000394863.3:p.Lys223=
ENST00000439754.5:c.354G>A	ENSP00000403207.1:p.Lys118=
ENST00000449045.6:c.360G>A	ENSP00000392293.2:p.Lys120=
ENST00000527311.6:c.444G>A	ENSP00000436695.2:p.Lys148=
ENST00000529905.5:c.669G>A	ENSP00000432053.1:p.Lys223=
ENST00000530076.5:c.12G>A	ENSP00000434007.1:p.Lys4=
ENST00000530704.5:c.*292G>A	ENSP00000431655.1:n.*292G>A
NM_000310.3:c.669G>A , LRG_690t1:c.669G>A	NP_000301.1:p.Lys223=
NM_001142604.1:c.360G>A	NP_001136076.1:p.Lys120=
XM_005271008.1:c.669G>A	XP_005271065.1:p.Lys223=
NM_001363695.1:c.669G>A	NP_001350624.1:p.Lys223=
NM_000310.4:c.669G>A MANE Select	NP_000301.1:p.Lys223=
NM_001142604.2:c.360G>A	NP_001136076.1:p.Lys120=
NM_001363695.2:c.669G>A	NP_001350624.1:p.Lys223=