Canonical Allele Identifier: CA5858577

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305505
• ClinVar RCV Id: RCV000306279
• dbSNP Id: rs370517226
• ExAC: 11:6635733 A / T
• gnomAD v2: 11-6635733-A-T
• gnomAD v3: 11-6614502-A-T
• gnomAD v4: 11-6614502-A-T
• MyVariant Identifiers: chr11:g.6635733A>T (hg19) ; chr11:g.6614502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614502A>T , CM000673.2:g.6614502A>T	GRCh38
NC_000011.9:g.6635733A>T , CM000673.1:g.6635733A>T	GRCh37
NC_000011.8:g.6592309A>T	NCBI36
NG_008653.1:g.9960T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*44T>A	ENSP00000507321.1:n.*44T>A
ENST00000299427.12:c.*44T>A MANE Select	ENSP00000299427.6:n.*44T>A
ENST00000524611.2:n.775T>A
ENST00000533371.6:c.*44T>A	ENSP00000437066.1:n.*44T>A
ENST00000642892.1:c.*44T>A	ENSP00000494165.1:n.*44T>A
ENST00000643342.1:c.809T>A
ENST00000643439.1:c.*1476T>A	ENSP00000495849.1:n.*1476T>A
ENST00000643479.1:n.1922T>A
ENST00000643516.1:c.1245T>A
ENST00000644218.1:c.*44T>A	ENSP00000493574.1:n.*44T>A
ENST00000644683.1:c.*1189T>A	ENSP00000494085.1:n.*1189T>A
ENST00000644810.1:c.*44T>A	ENSP00000495895.1:n.*44T>A
ENST00000644831.1:n.1912T>A
ENST00000644933.1:c.*602T>A	ENSP00000496133.1:n.*602T>A
ENST00000645285.1:c.*602T>A	ENSP00000495058.1:n.*602T>A
ENST00000645331.1:n.2941T>A
ENST00000645620.1:c.*44T>A	ENSP00000493657.1:n.*44T>A
ENST00000646691.1:n.1623T>A
ENST00000646777.1:n.2069T>A
ENST00000647016.1:n.2216T>A
ENST00000647152.1:c.*44T>A	ENSP00000495893.1:n.*44T>A
ENST00000647209.1:c.*1605T>A	ENSP00000495558.1:n.*1605T>A
ENST00000647346.1:n.2756T>A
ENST00000299427.10:c.*44T>A	ENSP00000299427.6:n.*44T>A
ENST00000533371.5:c.*44T>A	ENSP00000437066.1:n.*44T>A
ENST00000611494.4:c.*64T>A	ENSP00000484546.1:n.*64T>A
NM_000391.3:c.*44T>A	NP_000382.3:n.*44T>A
NM_000391.4:c.*44T>A MANE Select	NP_000382.3:n.*44T>A