Canonical Allele Identifier: CA379472689

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636488G>C (hg19) ; chr11:g.6615257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615257G>C , CM000673.2:g.6615257G>C	GRCh38
NC_000011.9:g.6636488G>C , CM000673.1:g.6636488G>C	GRCh37
NC_000011.8:g.6593064G>C	NCBI36
NG_008653.1:g.9205C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1225C>G	ENSP00000507321.1:p.Arg409Gly
ENST00000299427.12:c.1339C>G MANE Select	ENSP00000299427.6:p.Arg447Gly
ENST00000524611.2:n.199C>G
ENST00000524924.2:n.459C>G
ENST00000533371.6:c.610C>G	ENSP00000437066.1:p.Arg204Gly
ENST00000642892.1:c.610C>G	ENSP00000494165.1:p.Arg204Gly
ENST00000643342.1:c.412C>G
ENST00000643439.1:c.*1079C>G	ENSP00000495849.1:n.*1079C>G
ENST00000643479.1:n.1525C>G
ENST00000643516.1:c.848C>G
ENST00000644218.1:c.1150C>G	ENSP00000493574.1:p.Arg384Gly
ENST00000644683.1:c.*792C>G	ENSP00000494085.1:n.*792C>G
ENST00000644810.1:c.1060C>G	ENSP00000495895.1:p.Arg354Gly
ENST00000644831.1:n.1515C>G
ENST00000644933.1:c.*205C>G	ENSP00000496133.1:n.*205C>G
ENST00000645285.1:c.*205C>G	ENSP00000495058.1:n.*205C>G
ENST00000645331.1:n.2544C>G
ENST00000645620.1:c.610C>G	ENSP00000493657.1:p.Arg204Gly
ENST00000646691.1:n.1226C>G
ENST00000646777.1:n.1672C>G
ENST00000647016.1:n.1819C>G
ENST00000647152.1:c.610C>G	ENSP00000495893.1:p.Arg204Gly
ENST00000647209.1:c.*1208C>G	ENSP00000495558.1:n.*1208C>G
ENST00000647346.1:n.2359C>G
ENST00000299427.10:c.1339C>G	ENSP00000299427.6:p.Arg447Gly
ENST00000524611.1:n.217C>G
ENST00000532191.1:n.392C>G
ENST00000533371.5:c.610C>G	ENSP00000437066.1:p.Arg204Gly
ENST00000611494.4:c.1339C>G	ENSP00000484546.1:p.Arg447Gly
NM_000391.3:c.1339C>G	NP_000382.3:p.Arg447Gly
NM_000391.4:c.1339C>G MANE Select	NP_000382.3:p.Arg447Gly