Canonical Allele Identifier: CA274113

Gene: TPP1

Linked Data

• ClinVar Variation Id: 188909
• ClinVar RCV Id: RCV000169269 ; RCV000524081
• dbSNP Id: rs786204553
• gnomAD v2: 11-6636096-C-T
• gnomAD v4: 11-6614865-C-T
• MyVariant Identifiers: chr11:g.6636096C>T (hg19) ; chr11:g.6614865C>T (hg38)
• PubMed: PMID:20820830 ; PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614865C>T , CM000673.2:g.6614865C>T	GRCh38
NC_000011.9:g.6636096C>T , CM000673.1:g.6636096C>T	GRCh37
NC_000011.8:g.6592672C>T	NCBI36
NG_008653.1:g.9597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1437+1G>A	ENSP00000507321.1:n.1437+1G>A
ENST00000299427.12:c.1551+1G>A MANE Select	ENSP00000299427.6:n.1551+1G>A
ENST00000524611.2:n.412G>A
ENST00000524924.2:n.671+1G>A
ENST00000533371.6:c.822+1G>A	ENSP00000437066.1:n.822+1G>A
ENST00000642892.1:c.822+1G>A	ENSP00000494165.1:n.822+1G>A
ENST00000643342.1:c.624+1G>A
ENST00000643439.1:c.*1291+1G>A	ENSP00000495849.1:n.*1291+1G>A
ENST00000643479.1:n.1737+1G>A
ENST00000643516.1:c.1060+1G>A
ENST00000644218.1:c.1362+1G>A	ENSP00000493574.1:n.1362+1G>A
ENST00000644683.1:c.*1004+1G>A	ENSP00000494085.1:n.*1004+1G>A
ENST00000644810.1:c.1272+1G>A	ENSP00000495895.1:n.1272+1G>A
ENST00000644831.1:n.1727+1G>A
ENST00000644933.1:c.*417+1G>A	ENSP00000496133.1:n.*417+1G>A
ENST00000645285.1:c.*417+1G>A	ENSP00000495058.1:n.*417+1G>A
ENST00000645331.1:n.2756+1G>A
ENST00000645620.1:c.822+1G>A	ENSP00000493657.1:n.822+1G>A
ENST00000646691.1:n.1438+1G>A
ENST00000646777.1:n.1884+1G>A
ENST00000647016.1:n.2031+1G>A
ENST00000647152.1:c.822+1G>A	ENSP00000495893.1:n.822+1G>A
ENST00000647209.1:c.*1420+1G>A	ENSP00000495558.1:n.*1420+1G>A
ENST00000647346.1:n.2571+1G>A
ENST00000299427.10:c.1551+1G>A	ENSP00000299427.6:n.1551+1G>A
ENST00000524611.1:n.429+1G>A
ENST00000533371.5:c.822+1G>A	ENSP00000437066.1:n.822+1G>A
ENST00000611494.4:c.1551+1G>A	ENSP00000484546.1:n.1551+1G>A
NM_000391.3:c.1551+1G>A	NP_000382.3:n.1551+1G>A
NM_000391.4:c.1551+1G>A MANE Select	NP_000382.3:n.1551+1G>A