Canonical Allele Identifier: CA472769780

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635909A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614678A>C , CM000673.2:g.6614678A>C	GRCh38
NC_000011.9:g.6635909A>C , CM000673.1:g.6635909A>C	GRCh37
NC_000011.8:g.6592485A>C	NCBI36
NG_008653.1:g.9784T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1446T>G	ENSP00000507321.1:p.Arg482=
ENST00000299427.12:c.1560T>G MANE Select	ENSP00000299427.6:p.Arg520=
ENST00000524611.2:n.599T>G
ENST00000524924.2:n.680T>G
ENST00000533371.6:c.831T>G	ENSP00000437066.1:p.Arg277=
ENST00000642892.1:c.831T>G	ENSP00000494165.1:p.Arg277=
ENST00000643342.1:c.633T>G
ENST00000643439.1:c.*1300T>G	ENSP00000495849.1:n.*1300T>G
ENST00000643479.1:n.1746T>G
ENST00000643516.1:c.1069T>G
ENST00000644218.1:c.1371T>G	ENSP00000493574.1:p.Arg457=
ENST00000644683.1:c.*1013T>G	ENSP00000494085.1:n.*1013T>G
ENST00000644810.1:c.1281T>G	ENSP00000495895.1:p.Arg427=
ENST00000644831.1:n.1736T>G
ENST00000644933.1:c.*426T>G	ENSP00000496133.1:n.*426T>G
ENST00000645285.1:c.*426T>G	ENSP00000495058.1:n.*426T>G
ENST00000645331.1:n.2765T>G
ENST00000645620.1:c.831T>G	ENSP00000493657.1:p.Arg277=
ENST00000646691.1:n.1447T>G
ENST00000646777.1:n.1893T>G
ENST00000647016.1:n.2040T>G
ENST00000647152.1:c.831T>G	ENSP00000495893.1:p.Arg277=
ENST00000647209.1:c.*1429T>G	ENSP00000495558.1:n.*1429T>G
ENST00000647346.1:n.2580T>G
ENST00000299427.10:c.1560T>G	ENSP00000299427.6:p.Arg520=
ENST00000524611.1:n.438T>G
ENST00000533371.5:c.831T>G	ENSP00000437066.1:p.Arg277=
ENST00000611494.4:c.1560T>G	ENSP00000484546.1:p.Arg520=
NM_000391.3:c.1560T>G	NP_000382.3:p.Arg520=
NM_000391.4:c.1560T>G MANE Select	NP_000382.3:p.Arg520=