Canonical Allele Identifier: CA10581624

Gene: PPT1

Linked Data

• ClinVar Variation Id: 236408
• ClinVar RCV Id: RCV000225611
• dbSNP Id: rs878853323
• gnomAD v4: 1-40092499-A-G
• MyVariant Identifiers: chr1:g.40558171A>G (hg19) ; chr1:g.40092499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092499A>G , CM000663.2:g.40092499A>G	GRCh38
NC_000001.10:g.40558171A>G , CM000663.1:g.40558171A>G	GRCh37
NC_000001.9:g.40330758A>G	NCBI36
NG_009192.1:g.9972T>C , LRG_690:g.9972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.137T>C	ENSP00000361865.5:p.Leu46Pro
ENST00000433473.8:c.130T>C	ENSP00000394863.4:p.Cys44Arg
ENST00000439754.6:c.133T>C	ENSP00000403207.2:p.Cys45Arg
ENST00000449045.7:c.125-2987T>C	ENSP00000392293.2:n.125-2987T>C
ENST00000526547.2:c.413T>C
ENST00000527311.7:c.133T>C	ENSP00000436695.3:p.Cys45Arg
ENST00000530704.6:c.133T>C	ENSP00000431655.1:p.Cys45Arg
ENST00000641083.1:c.111T>C
ENST00000641236.1:n.145T>C
ENST00000641319.1:c.133T>C	ENSP00000493128.1:p.Cys45Arg
ENST00000641471.1:c.220T>C	ENSP00000493146.1:p.Cys74Arg
ENST00000641548.1:c.126T>C	ENSP00000492984.1:p.Ala42=
ENST00000641691.1:c.126T>C	ENSP00000492910.1:p.Ala42=
ENST00000641924.1:c.124+4616T>C	ENSP00000493063.1:n.124+4616T>C
ENST00000642050.2:c.133T>C MANE Select	ENSP00000493153.1:p.Cys45Arg
ENST00000372779.8:c.220T>C	ENSP00000361865.4:p.Cys74Arg
ENST00000433473.7:c.133T>C	ENSP00000394863.3:p.Cys45Arg
ENST00000449045.6:c.125-2987T>C	ENSP00000392293.2:n.125-2987T>C
ENST00000526547.1:c.-18T>C	ENSP00000436481.1:n.-18T>C
ENST00000527311.6:c.125-442T>C	ENSP00000436695.2:n.125-442T>C
ENST00000529905.5:c.133T>C	ENSP00000432053.1:p.Cys45Arg
ENST00000530704.5:c.133T>C	ENSP00000431655.1:p.Cys45Arg
NM_000310.3:c.133T>C , LRG_690t1:c.133T>C	NP_000301.1:p.Cys45Arg
NM_001142604.1:c.125-2987T>C	NP_001136076.1:n.125-2987T>C
XM_005271008.1:c.133T>C	XP_005271065.1:p.Cys45Arg
NM_001363695.1:c.133T>C	NP_001350624.1:p.Cys45Arg
NM_000310.4:c.133T>C MANE Select	NP_000301.1:p.Cys45Arg
NM_001142604.2:c.125-2987T>C	NP_001136076.1:n.125-2987T>C
NM_001363695.2:c.133T>C	NP_001350624.1:p.Cys45Arg