Canonical Allele Identifier: CA379471953

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635796T>C (hg19) ; chr11:g.6614565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614565T>C , CM000673.2:g.6614565T>C	GRCh38
NC_000011.9:g.6635796T>C , CM000673.1:g.6635796T>C	GRCh37
NC_000011.8:g.6592372T>C	NCBI36
NG_008653.1:g.9897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1559A>G	ENSP00000507321.1:p.Lys520Arg
ENST00000299427.12:c.1673A>G MANE Select	ENSP00000299427.6:p.Lys558Arg
ENST00000524611.2:n.712A>G
ENST00000533371.6:c.944A>G	ENSP00000437066.1:p.Lys315Arg
ENST00000642892.1:c.944A>G	ENSP00000494165.1:p.Lys315Arg
ENST00000643342.1:c.746A>G
ENST00000643439.1:c.*1413A>G	ENSP00000495849.1:n.*1413A>G
ENST00000643479.1:n.1859A>G
ENST00000643516.1:c.1182A>G
ENST00000644218.1:c.1484A>G	ENSP00000493574.1:p.Lys495Arg
ENST00000644683.1:c.*1126A>G	ENSP00000494085.1:n.*1126A>G
ENST00000644810.1:c.1394A>G	ENSP00000495895.1:p.Lys465Arg
ENST00000644831.1:n.1849A>G
ENST00000644933.1:c.*539A>G	ENSP00000496133.1:n.*539A>G
ENST00000645285.1:c.*539A>G	ENSP00000495058.1:n.*539A>G
ENST00000645331.1:n.2878A>G
ENST00000645620.1:c.944A>G	ENSP00000493657.1:p.Lys315Arg
ENST00000646691.1:n.1560A>G
ENST00000646777.1:n.2006A>G
ENST00000647016.1:n.2153A>G
ENST00000647152.1:c.944A>G	ENSP00000495893.1:p.Lys315Arg
ENST00000647209.1:c.*1542A>G	ENSP00000495558.1:n.*1542A>G
ENST00000647346.1:n.2693A>G
ENST00000299427.10:c.1673A>G	ENSP00000299427.6:p.Lys558Arg
ENST00000533371.5:c.944A>G	ENSP00000437066.1:p.Lys315Arg
ENST00000611494.4:c.*1A>G	ENSP00000484546.1:n.*1A>G
NM_000391.3:c.1673A>G	NP_000382.3:p.Lys558Arg
NM_000391.4:c.1673A>G MANE Select	NP_000382.3:p.Lys558Arg