Canonical Allele Identifier: CA379472105

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635862A>C (hg19) ; chr11:g.6614631A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614631A>C , CM000673.2:g.6614631A>C	GRCh38
NC_000011.9:g.6635862A>C , CM000673.1:g.6635862A>C	GRCh37
NC_000011.8:g.6592438A>C	NCBI36
NG_008653.1:g.9831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1493T>G	ENSP00000507321.1:p.Phe498Cys
ENST00000299427.12:c.1607T>G MANE Select	ENSP00000299427.6:p.Phe536Cys
ENST00000524611.2:n.646T>G
ENST00000524924.2:n.727T>G
ENST00000533371.6:c.878T>G	ENSP00000437066.1:p.Phe293Cys
ENST00000642892.1:c.878T>G	ENSP00000494165.1:p.Phe293Cys
ENST00000643342.1:c.680T>G
ENST00000643439.1:c.*1347T>G	ENSP00000495849.1:n.*1347T>G
ENST00000643479.1:n.1793T>G
ENST00000643516.1:c.1116T>G
ENST00000644218.1:c.1418T>G	ENSP00000493574.1:p.Phe473Cys
ENST00000644683.1:c.*1060T>G	ENSP00000494085.1:n.*1060T>G
ENST00000644810.1:c.1328T>G	ENSP00000495895.1:p.Phe443Cys
ENST00000644831.1:n.1783T>G
ENST00000644933.1:c.*473T>G	ENSP00000496133.1:n.*473T>G
ENST00000645285.1:c.*473T>G	ENSP00000495058.1:n.*473T>G
ENST00000645331.1:n.2812T>G
ENST00000645620.1:c.878T>G	ENSP00000493657.1:p.Phe293Cys
ENST00000646691.1:n.1494T>G
ENST00000646777.1:n.1940T>G
ENST00000647016.1:n.2087T>G
ENST00000647152.1:c.878T>G	ENSP00000495893.1:p.Phe293Cys
ENST00000647209.1:c.*1476T>G	ENSP00000495558.1:n.*1476T>G
ENST00000647346.1:n.2627T>G
ENST00000299427.10:c.1607T>G	ENSP00000299427.6:p.Phe536Cys
ENST00000533371.5:c.878T>G	ENSP00000437066.1:p.Phe293Cys
ENST00000611494.4:c.1607T>G	ENSP00000484546.1:p.Phe536Cys
NM_000391.3:c.1607T>G	NP_000382.3:p.Phe536Cys
NM_000391.4:c.1607T>G MANE Select	NP_000382.3:p.Phe536Cys