Canonical Allele Identifier: CA2697552318

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2744463
• ClinVar RCV Id: RCV003509290

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074164del , CM000663.2:g.40074164del	GRCh38
NC_000001.10:g.40539836del , CM000663.1:g.40539836del	GRCh37
NC_000001.9:g.40312423del	NCBI36
NG_009192.1:g.28309del , LRG_690:g.28309del

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.817del	ENSP00000394863.4:p.Met273TrpfsTer7
ENST00000439754.6:c.748del	ENSP00000403207.2:p.Met250TrpfsTer7
ENST00000449045.7:c.511del	ENSP00000392293.2:p.Met171TrpfsTer7
ENST00000527311.7:c.589del	ENSP00000436695.3:p.Met197TrpfsTer7
ENST00000530076.6:c.163del	ENSP00000434007.1:p.Met55TrpfsTer7
ENST00000530704.6:c.*443del	ENSP00000431655.1:n.*443del
ENST00000641083.1:c.910del
ENST00000641236.1:n.1057del
ENST00000641319.1:c.*30del	ENSP00000493128.1:n.*30del
ENST00000641381.1:c.242del
ENST00000641471.1:c.907del	ENSP00000493146.1:p.Met303TrpfsTer7
ENST00000641691.1:c.*672del	ENSP00000492910.1:n.*672del
ENST00000641924.1:c.*249del	ENSP00000493063.1:n.*249del
ENST00000642050.2:c.820del MANE Select	ENSP00000493153.1:p.Met274TrpfsTer7
ENST00000372775.2:n.217del
ENST00000433473.7:c.820del	ENSP00000394863.3:p.Met274TrpfsTer7
ENST00000439754.5:c.433del	ENSP00000403207.1:p.Met145TrpfsTer7
ENST00000449045.6:c.511del	ENSP00000392293.2:p.Met171TrpfsTer7
ENST00000527311.6:c.595del	ENSP00000436695.2:p.Met199TrpfsTer?
ENST00000529905.5:c.820del	ENSP00000432053.1:p.Met274TrpfsTer7
ENST00000530076.5:c.163del	ENSP00000434007.1:p.Met55TrpfsTer7
ENST00000530704.5:c.*443del	ENSP00000431655.1:n.*443del
NM_000310.3:c.820del , LRG_690t1:c.820del	NP_000301.1:p.Met274TrpfsTer7
NM_001142604.1:c.511del	NP_001136076.1:p.Met171TrpfsTer7
XM_005271008.1:c.748del	XP_005271065.1:p.Met250TrpfsTer7
NM_001363695.1:c.748del	NP_001350624.1:p.Met250TrpfsTer7
NM_000310.4:c.820del MANE Select	NP_000301.1:p.Met274TrpfsTer7
NM_001142604.2:c.511del	NP_001136076.1:p.Met171TrpfsTer7
NM_001363695.2:c.748del	NP_001350624.1:p.Met250TrpfsTer7