Canonical Allele Identifier: CA735683620

Gene: PPT1

Linked Data

• dbSNP Id: rs1395419843
• MyVariant Identifiers: chr1:g.40539808del (hg19) ; chr1:g.40074136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074138del , CM000663.2:g.40074138del	GRCh38
NC_000001.10:g.40539810del , CM000663.1:g.40539810del	GRCh37
NC_000001.9:g.40312397del	NCBI36
NG_009192.1:g.28335del , LRG_690:g.28335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.843del	ENSP00000394863.4:p.Leu282TrpfsTer?
ENST00000439754.6:c.774del	ENSP00000403207.2:p.Leu259TrpfsTer?
ENST00000449045.7:c.537del	ENSP00000392293.2:p.Leu180TrpfsTer?
ENST00000527311.7:c.615del	ENSP00000436695.3:p.Leu206TrpfsTer?
ENST00000530076.6:c.189del	ENSP00000434007.1:p.Leu64TrpfsTer?
ENST00000530704.6:c.*469del	ENSP00000431655.1:n.*469del
ENST00000641083.1:c.936del
ENST00000641236.1:n.1083del
ENST00000641319.1:c.*56del	ENSP00000493128.1:n.*56del
ENST00000641381.1:c.268del
ENST00000641471.1:c.933del	ENSP00000493146.1:p.Leu312TrpfsTer?
ENST00000641691.1:c.*698del	ENSP00000492910.1:n.*698del
ENST00000641924.1:c.*275del	ENSP00000493063.1:n.*275del
ENST00000642050.2:c.846del MANE Select	ENSP00000493153.1:p.Leu283TrpfsTer?
ENST00000372775.2:n.243del
ENST00000433473.7:c.846del	ENSP00000394863.3:p.Leu283TrpfsTer?
ENST00000439754.5:c.459del	ENSP00000403207.1:p.Leu154TrpfsTer?
ENST00000449045.6:c.537del	ENSP00000392293.2:p.Leu180TrpfsTer?
ENST00000529905.5:c.846del	ENSP00000432053.1:p.Leu283TrpfsTer?
ENST00000530076.5:c.189del	ENSP00000434007.1:p.Leu64TrpfsTer?
ENST00000530704.5:c.*469del	ENSP00000431655.1:n.*469del
NM_000310.3:c.846del , LRG_690t1:c.846del	NP_000301.1:p.Leu283TrpfsTer?
NM_001142604.1:c.537del	NP_001136076.1:p.Leu180TrpfsTer?
XM_005271008.1:c.774del	XP_005271065.1:p.Leu259TrpfsTer?
NM_001363695.1:c.774del	NP_001350624.1:p.Leu259TrpfsTer?
NM_000310.4:c.846del MANE Select	NP_000301.1:p.Leu283TrpfsTer?
NM_001142604.2:c.537del	NP_001136076.1:p.Leu180TrpfsTer?
NM_001363695.2:c.774del	NP_001350624.1:p.Leu259TrpfsTer?