Canonical Allele Identifier: CA379472881

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636686C>A (hg19) ; chr11:g.6615455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615455C>A , CM000673.2:g.6615455C>A	GRCh38
NC_000011.9:g.6636686C>A , CM000673.1:g.6636686C>A	GRCh37
NC_000011.8:g.6593262C>A	NCBI36
NG_008653.1:g.9007G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1139G>T	ENSP00000507321.1:p.Arg380Leu
ENST00000299427.12:c.1253G>T MANE Select	ENSP00000299427.6:p.Arg418Leu
ENST00000436873.7:c.490G>T
ENST00000524611.2:n.1G>T
ENST00000524924.2:n.373G>T
ENST00000533371.6:c.524G>T	ENSP00000437066.1:p.Arg175Leu
ENST00000642892.1:c.524G>T	ENSP00000494165.1:p.Arg175Leu
ENST00000643342.1:c.326G>T
ENST00000643439.1:c.*993G>T	ENSP00000495849.1:n.*993G>T
ENST00000643479.1:n.1439G>T
ENST00000643516.1:c.762G>T
ENST00000644218.1:c.1064G>T	ENSP00000493574.1:p.Arg355Leu
ENST00000644683.1:c.*706G>T	ENSP00000494085.1:n.*706G>T
ENST00000644810.1:c.974G>T	ENSP00000495895.1:p.Arg325Leu
ENST00000644831.1:n.1429G>T
ENST00000644933.1:c.*119G>T	ENSP00000496133.1:n.*119G>T
ENST00000645285.1:c.*119G>T	ENSP00000495058.1:n.*119G>T
ENST00000645331.1:n.2458G>T
ENST00000645620.1:c.524G>T	ENSP00000493657.1:p.Arg175Leu
ENST00000646691.1:n.1028G>T
ENST00000646777.1:n.1586G>T
ENST00000647016.1:n.1733G>T
ENST00000647152.1:c.524G>T	ENSP00000495893.1:p.Arg175Leu
ENST00000647209.1:c.*1122G>T	ENSP00000495558.1:n.*1122G>T
ENST00000647346.1:n.2273G>T
ENST00000299427.10:c.1253G>T	ENSP00000299427.6:p.Arg418Leu
ENST00000524611.1:n.19G>T
ENST00000524924.1:n.208G>T
ENST00000532191.1:n.306G>T
ENST00000533371.5:c.524G>T	ENSP00000437066.1:p.Arg175Leu
ENST00000611494.4:c.1253G>T	ENSP00000484546.1:p.Arg418Leu
NM_000391.3:c.1253G>T	NP_000382.3:p.Arg418Leu
NM_000391.4:c.1253G>T MANE Select	NP_000382.3:p.Arg418Leu