Canonical Allele Identifier: CA379472717

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636502A>C (hg19) ; chr11:g.6615271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615271A>C , CM000673.2:g.6615271A>C	GRCh38
NC_000011.9:g.6636502A>C , CM000673.1:g.6636502A>C	GRCh37
NC_000011.8:g.6593078A>C	NCBI36
NG_008653.1:g.9191T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1211T>G	ENSP00000507321.1:p.Phe404Cys
ENST00000299427.12:c.1325T>G MANE Select	ENSP00000299427.6:p.Phe442Cys
ENST00000524611.2:n.185T>G
ENST00000524924.2:n.445T>G
ENST00000533371.6:c.596T>G	ENSP00000437066.1:p.Phe199Cys
ENST00000642892.1:c.596T>G	ENSP00000494165.1:p.Phe199Cys
ENST00000643342.1:c.398T>G
ENST00000643439.1:c.*1065T>G	ENSP00000495849.1:n.*1065T>G
ENST00000643479.1:n.1511T>G
ENST00000643516.1:c.834T>G
ENST00000644218.1:c.1136T>G	ENSP00000493574.1:p.Phe379Cys
ENST00000644683.1:c.*778T>G	ENSP00000494085.1:n.*778T>G
ENST00000644810.1:c.1046T>G	ENSP00000495895.1:p.Phe349Cys
ENST00000644831.1:n.1501T>G
ENST00000644933.1:c.*191T>G	ENSP00000496133.1:n.*191T>G
ENST00000645285.1:c.*191T>G	ENSP00000495058.1:n.*191T>G
ENST00000645331.1:n.2530T>G
ENST00000645620.1:c.596T>G	ENSP00000493657.1:p.Phe199Cys
ENST00000646691.1:n.1212T>G
ENST00000646777.1:n.1658T>G
ENST00000647016.1:n.1805T>G
ENST00000647152.1:c.596T>G	ENSP00000495893.1:p.Phe199Cys
ENST00000647209.1:c.*1194T>G	ENSP00000495558.1:n.*1194T>G
ENST00000647346.1:n.2345T>G
ENST00000299427.10:c.1325T>G	ENSP00000299427.6:p.Phe442Cys
ENST00000524611.1:n.203T>G
ENST00000524924.1:n.280T>G
ENST00000532191.1:n.378T>G
ENST00000533371.5:c.596T>G	ENSP00000437066.1:p.Phe199Cys
ENST00000611494.4:c.1325T>G	ENSP00000484546.1:p.Phe442Cys
NM_000391.3:c.1325T>G	NP_000382.3:p.Phe442Cys
NM_000391.4:c.1325T>G MANE Select	NP_000382.3:p.Phe442Cys