Canonical Allele Identifier: CA472769466

Gene: TPP1

Linked Data

• dbSNP Id: rs555048430
• MyVariant Identifiers: chr11:g.6635864A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614633A>C , CM000673.2:g.6614633A>C	GRCh38
NC_000011.9:g.6635864A>C , CM000673.1:g.6635864A>C	GRCh37
NC_000011.8:g.6592440A>C	NCBI36
NG_008653.1:g.9829T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1491T>G	ENSP00000507321.1:p.Gly497=
ENST00000299427.12:c.1605T>G MANE Select	ENSP00000299427.6:p.Gly535=
ENST00000524611.2:n.644T>G
ENST00000524924.2:n.725T>G
ENST00000533371.6:c.876T>G	ENSP00000437066.1:p.Gly292=
ENST00000642892.1:c.876T>G	ENSP00000494165.1:p.Gly292=
ENST00000643342.1:c.678T>G
ENST00000643439.1:c.*1345T>G	ENSP00000495849.1:n.*1345T>G
ENST00000643479.1:n.1791T>G
ENST00000643516.1:c.1114T>G
ENST00000644218.1:c.1416T>G	ENSP00000493574.1:p.Gly472=
ENST00000644683.1:c.*1058T>G	ENSP00000494085.1:n.*1058T>G
ENST00000644810.1:c.1326T>G	ENSP00000495895.1:p.Gly442=
ENST00000644831.1:n.1781T>G
ENST00000644933.1:c.*471T>G	ENSP00000496133.1:n.*471T>G
ENST00000645285.1:c.*471T>G	ENSP00000495058.1:n.*471T>G
ENST00000645331.1:n.2810T>G
ENST00000645620.1:c.876T>G	ENSP00000493657.1:p.Gly292=
ENST00000646691.1:n.1492T>G
ENST00000646777.1:n.1938T>G
ENST00000647016.1:n.2085T>G
ENST00000647152.1:c.876T>G	ENSP00000495893.1:p.Gly292=
ENST00000647209.1:c.*1474T>G	ENSP00000495558.1:n.*1474T>G
ENST00000647346.1:n.2625T>G
ENST00000299427.10:c.1605T>G	ENSP00000299427.6:p.Gly535=
ENST00000533371.5:c.876T>G	ENSP00000437066.1:p.Gly292=
ENST00000611494.4:c.1605T>G	ENSP00000484546.1:p.Gly535=
NM_000391.3:c.1605T>G	NP_000382.3:p.Gly535=
NM_000391.4:c.1605T>G MANE Select	NP_000382.3:p.Gly535=