Canonical Allele Identifier: CA645530871

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2752503
• ClinVar RCV Id: RCV003509943
• gnomAD v4: 1-40092462-AT-A
• COSMIC: COSM2168986

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092469del , CM000663.2:g.40092469del	GRCh38
NC_000001.10:g.40558141del , CM000663.1:g.40558141del	GRCh37
NC_000001.9:g.40330728del	NCBI36
NG_009192.1:g.10008del , LRG_690:g.10008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*5del	ENSP00000361865.5:n.*5del
ENST00000433473.8:c.166del	ENSP00000394863.4:p.Met56TrpfsTer14
ENST00000439754.6:c.169del	ENSP00000403207.2:p.Met57TrpfsTer14
ENST00000449045.7:c.125-2951del	ENSP00000392293.2:n.125-2951del
ENST00000526547.2:c.449del
ENST00000527311.7:c.169del	ENSP00000436695.3:p.Met57TrpfsTer14
ENST00000530704.6:c.169del	ENSP00000431655.1:p.Met57TrpfsTer14
ENST00000641083.1:c.147del
ENST00000641236.1:n.181del
ENST00000641319.1:c.169del	ENSP00000493128.1:p.Met57TrpfsTer14
ENST00000641471.1:c.256del	ENSP00000493146.1:p.Met86TrpfsTer14
ENST00000641548.1:c.*21del	ENSP00000492984.1:n.*21del
ENST00000641691.1:c.*21del	ENSP00000492910.1:n.*21del
ENST00000641924.1:c.124+4652del	ENSP00000493063.1:n.124+4652del
ENST00000642050.2:c.169del MANE Select	ENSP00000493153.1:p.Met57TrpfsTer14
ENST00000372779.8:c.256del	ENSP00000361865.4:p.Met86TrpfsTer14
ENST00000433473.7:c.169del	ENSP00000394863.3:p.Met57TrpfsTer14
ENST00000449045.6:c.125-2951del	ENSP00000392293.2:n.125-2951del
ENST00000526547.1:c.19del	ENSP00000436481.1:p.Met7TrpfsTer14
ENST00000527311.6:c.125-406del	ENSP00000436695.2:n.125-406del
ENST00000529905.5:c.169del	ENSP00000432053.1:p.Met57TrpfsTer14
ENST00000530704.5:c.169del	ENSP00000431655.1:p.Met57TrpfsTer14
NM_000310.3:c.169del , LRG_690t1:c.169del	NP_000301.1:p.Met57TrpfsTer14
NM_001142604.1:c.125-2951del	NP_001136076.1:n.125-2951del
XM_005271008.1:c.169del	XP_005271065.1:p.Met57TrpfsTer14
NM_001363695.1:c.169del	NP_001350624.1:p.Met57TrpfsTer14
NM_000310.4:c.169del MANE Select	NP_000301.1:p.Met57TrpfsTer14
NM_001142604.2:c.125-2951del	NP_001136076.1:n.125-2951del
NM_001363695.2:c.169del	NP_001350624.1:p.Met57TrpfsTer14