Canonical Allele Identifier: CA263484

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56185
• ClinVar RCV Id: RCV001844028
• dbSNP Id: rs386833637
• gnomAD v3: 1-40092149-CAAG-C
• gnomAD v4: 1-40092149-CAAG-C
• MyVariant Identifiers: chr1:g.40557822_40557824del (hg19) ; chr1:g.40092150_40092152del (hg38)
• PubMed: PMID:10649502 ; PMID:10679943 ; PMID:11520175 ; PMID:11589012 ; PMID:17565660 ; PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092156_40092158del , CM000663.2:g.40092156_40092158del	GRCh38
NC_000001.10:g.40557828_40557830del , CM000663.1:g.40557828_40557830del	GRCh37
NC_000001.9:g.40330415_40330417del	NCBI36
NG_009192.1:g.10319_10321del , LRG_690:g.10319_10321del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*91_*93del	ENSP00000361865.5:n.*91_*93del
ENST00000433473.8:c.252_254del	ENSP00000394863.4:p.Phe84del
ENST00000439754.6:c.255_257del	ENSP00000403207.2:p.Phe85del
ENST00000449045.7:c.125-2640_125-2638del	ENSP00000392293.2:n.125-2640_125-2638del
ENST00000526547.2:c.535_537del
ENST00000527311.7:c.234+246_234+248del	ENSP00000436695.3:n.234+246_234+248del
ENST00000530704.6:c.255_257del	ENSP00000431655.1:p.Phe85del
ENST00000641083.1:c.233_235del
ENST00000641236.1:n.492_494del
ENST00000641319.1:c.255_257del	ENSP00000493128.1:p.Phe85del
ENST00000641471.1:c.342_344del	ENSP00000493146.1:p.Phe114del
ENST00000641548.1:c.*107_*109del	ENSP00000492984.1:n.*107_*109del
ENST00000641691.1:c.*107_*109del	ENSP00000492910.1:n.*107_*109del
ENST00000641924.1:c.124+4963_124+4965del	ENSP00000493063.1:n.124+4963_124+4965del
ENST00000642050.2:c.255_257del MANE Select	ENSP00000493153.1:p.Phe85del
ENST00000372779.8:c.342_344del	ENSP00000361865.4:p.Phe114del
ENST00000433473.7:c.255_257del	ENSP00000394863.3:p.Phe85del
ENST00000449045.6:c.125-2640_125-2638del	ENSP00000392293.2:n.125-2640_125-2638del
ENST00000526547.1:c.105_107del	ENSP00000436481.1:p.Phe35del
ENST00000527311.6:c.125-95_125-93del	ENSP00000436695.2:n.125-95_125-93del
ENST00000529905.5:c.255_257del	ENSP00000432053.1:p.Phe85del
ENST00000530704.5:c.255_257del	ENSP00000431655.1:p.Phe85del
NM_000310.3:c.255_257del , LRG_690t1:c.255_257del	NP_000301.1:p.Phe85del
NM_001142604.1:c.125-2640_125-2638del	NP_001136076.1:n.125-2640_125-2638del
XM_005271008.1:c.255_257del	XP_005271065.1:p.Phe85del
NM_001363695.1:c.255_257del	NP_001350624.1:p.Phe85del
NM_000310.4:c.255_257del MANE Select	NP_000301.1:p.Phe85del
NM_001142604.2:c.125-2640_125-2638del	NP_001136076.1:n.125-2640_125-2638del
NM_001363695.2:c.255_257del	NP_001350624.1:p.Phe85del