Canonical Allele Identifier: CA379475669

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638533A>C (hg19) ; chr11:g.6617302A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617302A>C , CM000673.2:g.6617302A>C	GRCh38
NC_000011.9:g.6638533A>C , CM000673.1:g.6638533A>C	GRCh37
NC_000011.8:g.6595109A>C	NCBI36
NG_008653.1:g.7160T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.393T>G	ENSP00000507321.1:p.Phe131Leu
ENST00000299427.12:c.507T>G MANE Select	ENSP00000299427.6:p.Phe169Leu
ENST00000428886.7:n.595T>G
ENST00000436873.7:c.311T>G
ENST00000524788.2:n.1519T>G
ENST00000524903.2:n.1635T>G
ENST00000528571.6:c.*247T>G	ENSP00000434647.1:n.*247T>G
ENST00000528807.2:n.163T>G
ENST00000530040.2:n.479+57T>G
ENST00000533371.6:c.-223T>G	ENSP00000437066.1:n.-223T>G
ENST00000534644.6:n.456+52T>G
ENST00000642892.1:c.-222+52T>G	ENSP00000494165.1:n.-222+52T>G
ENST00000643439.1:c.*247T>G	ENSP00000495849.1:n.*247T>G
ENST00000643479.1:n.536T>G
ENST00000643516.1:c.394T>G
ENST00000644151.1:n.1799T>G
ENST00000644218.1:c.507T>G	ENSP00000493574.1:p.Phe169Leu
ENST00000644683.1:c.450+57T>G	ENSP00000494085.1:n.450+57T>G
ENST00000644810.1:c.230-149T>G	ENSP00000495895.1:n.230-149T>G
ENST00000644831.1:n.536T>G
ENST00000644933.1:c.-223T>G	ENSP00000496133.1:n.-223T>G
ENST00000645020.1:n.1535T>G
ENST00000645285.1:c.-223T>G	ENSP00000495058.1:n.-223T>G
ENST00000645331.1:n.726T>G
ENST00000645620.1:c.-222+57T>G	ENSP00000493657.1:n.-222+57T>G
ENST00000646777.1:n.536T>G
ENST00000647016.1:n.840T>G
ENST00000647152.1:c.-223T>G	ENSP00000495893.1:n.-223T>G
ENST00000647209.1:c.*376T>G	ENSP00000495558.1:n.*376T>G
ENST00000647346.1:n.1527T>G
ENST00000299427.10:c.507T>G	ENSP00000299427.6:p.Phe169Leu
ENST00000428886.6:n.529T>G
ENST00000436873.6:c.450+57T>G	ENSP00000398136.2:n.450+57T>G
ENST00000524788.1:n.60T>G
ENST00000528571.5:c.*247T>G	ENSP00000434647.1:n.*247T>G
ENST00000533371.5:c.-223T>G	ENSP00000437066.1:n.-223T>G
ENST00000534644.5:n.492T>G
ENST00000611494.4:c.507T>G	ENSP00000484546.1:p.Phe169Leu
NM_000391.3:c.507T>G	NP_000382.3:p.Phe169Leu
NM_000391.4:c.507T>G MANE Select	NP_000382.3:p.Phe169Leu