Canonical Allele Identifier: CA379472739

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636511G>C (hg19) ; chr11:g.6615280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615280G>C , CM000673.2:g.6615280G>C	GRCh38
NC_000011.9:g.6636511G>C , CM000673.1:g.6636511G>C	GRCh37
NC_000011.8:g.6593087G>C	NCBI36
NG_008653.1:g.9182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1202C>G	ENSP00000507321.1:p.Ser401Cys
ENST00000299427.12:c.1316C>G MANE Select	ENSP00000299427.6:p.Ser439Cys
ENST00000524611.2:n.176C>G
ENST00000524924.2:n.436C>G
ENST00000533371.6:c.587C>G	ENSP00000437066.1:p.Ser196Cys
ENST00000642892.1:c.587C>G	ENSP00000494165.1:p.Ser196Cys
ENST00000643342.1:c.389C>G
ENST00000643439.1:c.*1056C>G	ENSP00000495849.1:n.*1056C>G
ENST00000643479.1:n.1502C>G
ENST00000643516.1:c.825C>G
ENST00000644218.1:c.1127C>G	ENSP00000493574.1:p.Ser376Cys
ENST00000644683.1:c.*769C>G	ENSP00000494085.1:n.*769C>G
ENST00000644810.1:c.1037C>G	ENSP00000495895.1:p.Ser346Cys
ENST00000644831.1:n.1492C>G
ENST00000644933.1:c.*182C>G	ENSP00000496133.1:n.*182C>G
ENST00000645285.1:c.*182C>G	ENSP00000495058.1:n.*182C>G
ENST00000645331.1:n.2521C>G
ENST00000645620.1:c.587C>G	ENSP00000493657.1:p.Ser196Cys
ENST00000646691.1:n.1203C>G
ENST00000646777.1:n.1649C>G
ENST00000647016.1:n.1796C>G
ENST00000647152.1:c.587C>G	ENSP00000495893.1:p.Ser196Cys
ENST00000647209.1:c.*1185C>G	ENSP00000495558.1:n.*1185C>G
ENST00000647346.1:n.2336C>G
ENST00000299427.10:c.1316C>G	ENSP00000299427.6:p.Ser439Cys
ENST00000524611.1:n.194C>G
ENST00000524924.1:n.271C>G
ENST00000532191.1:n.369C>G
ENST00000533371.5:c.587C>G	ENSP00000437066.1:p.Ser196Cys
ENST00000611494.4:c.1316C>G	ENSP00000484546.1:p.Ser439Cys
NM_000391.3:c.1316C>G	NP_000382.3:p.Ser439Cys
NM_000391.4:c.1316C>G MANE Select	NP_000382.3:p.Ser439Cys