Canonical Allele Identifier: CA379472107

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1493T>A	ENSP00000507321.1:p.Phe498Tyr
ENST00000299427.12:c.1607T>A MANE Select	ENSP00000299427.6:p.Phe536Tyr
ENST00000524611.2:n.646T>A
ENST00000524924.2:n.727T>A
ENST00000533371.6:c.878T>A	ENSP00000437066.1:p.Phe293Tyr
ENST00000642892.1:c.878T>A	ENSP00000494165.1:p.Phe293Tyr
ENST00000643342.1:c.680T>A
ENST00000643439.1:c.*1347T>A	ENSP00000495849.1:n.*1347T>A
ENST00000643479.1:n.1793T>A
ENST00000643516.1:c.1116T>A
ENST00000644218.1:c.1418T>A	ENSP00000493574.1:p.Phe473Tyr
ENST00000644683.1:c.*1060T>A	ENSP00000494085.1:n.*1060T>A
ENST00000644810.1:c.1328T>A	ENSP00000495895.1:p.Phe443Tyr
ENST00000644831.1:n.1783T>A
ENST00000644933.1:c.*473T>A	ENSP00000496133.1:n.*473T>A
ENST00000645285.1:c.*473T>A	ENSP00000495058.1:n.*473T>A
ENST00000645331.1:n.2812T>A
ENST00000645620.1:c.878T>A	ENSP00000493657.1:p.Phe293Tyr
ENST00000646691.1:n.1494T>A
ENST00000646777.1:n.1940T>A
ENST00000647016.1:n.2087T>A
ENST00000647152.1:c.878T>A	ENSP00000495893.1:p.Phe293Tyr
ENST00000647209.1:c.*1476T>A	ENSP00000495558.1:n.*1476T>A
ENST00000647346.1:n.2627T>A
ENST00000299427.10:c.1607T>A	ENSP00000299427.6:p.Phe536Tyr
ENST00000533371.5:c.878T>A	ENSP00000437066.1:p.Phe293Tyr
ENST00000611494.4:c.1607T>A	ENSP00000484546.1:p.Phe536Tyr
NM_000391.3:c.1607T>A	NP_000382.3:p.Phe536Tyr
NM_000391.4:c.1607T>A MANE Select	NP_000382.3:p.Phe536Tyr