Canonical Allele Identifier: CA10602401
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225692
ClinVar RCV Id: RCV000211004 RCV002509307
dbSNP Id: rs886037833
MyVariant Identifiers: chr11:g.6637592C>G (hg19) chr11:g.6616361C>G (hg38)
PubMed: PMID:26224725
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616361C>G , CM000673.2:g.6616361C>G GRCh38
NC_000011.9:g.6637592C>G , CM000673.1:g.6637592C>G GRCh37
NC_000011.8:g.6594168C>G NCBI36
NG_008653.1:g.8101G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.915G>C ENSP00000507321.1:p.Glu305Asp
ENST00000299427.12:c.1029G>C MANE Select ENSP00000299427.6:p.Glu343Asp
ENST00000436873.7:c.313-287G>C
ENST00000533371.6:c.300G>C ENSP00000437066.1:p.Glu100Asp
ENST00000642892.1:c.300G>C ENSP00000494165.1:p.Glu100Asp
ENST00000643342.1:c.119G>C
ENST00000643439.1:c.*769G>C ENSP00000495849.1:n.*769G>C
ENST00000643479.1:n.1215G>C
ENST00000643516.1:c.538G>C
ENST00000644218.1:c.887-287G>C ENSP00000493574.1:n.887-287G>C
ENST00000644683.1:c.*482G>C ENSP00000494085.1:n.*482G>C
ENST00000644810.1:c.750G>C ENSP00000495895.1:p.Glu250Asp
ENST00000644831.1:n.1205G>C
ENST00000644933.1:c.300G>C ENSP00000496133.1:p.Glu100Asp
ENST00000645285.1:c.158-287G>C ENSP00000495058.1:n.158-287G>C
ENST00000645331.1:n.1552G>C
ENST00000645620.1:c.300G>C ENSP00000493657.1:p.Glu100Asp
ENST00000646691.1:n.122G>C
ENST00000646777.1:n.1362G>C
ENST00000647016.1:n.1509G>C
ENST00000647152.1:c.300G>C ENSP00000495893.1:p.Glu100Asp
ENST00000647209.1:c.*898G>C ENSP00000495558.1:n.*898G>C
ENST00000647346.1:n.2049G>C
ENST00000299427.10:c.1029G>C ENSP00000299427.6:p.Glu343Asp
ENST00000533371.5:c.300G>C ENSP00000437066.1:p.Glu100Asp
ENST00000611494.4:c.1029G>C ENSP00000484546.1:p.Glu343Asp
NM_000391.3:c.1029G>C NP_000382.3:p.Glu343Asp
NM_000391.4:c.1029G>C MANE Select NP_000382.3:p.Glu343Asp
Search 100 bp 5'
Search 100 bp 3'