Canonical Allele Identifier: CA472772949

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637268T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616037T>C , CM000673.2:g.6616037T>C	GRCh38
NC_000011.9:g.6637268T>C , CM000673.1:g.6637268T>C	GRCh37
NC_000011.8:g.6593844T>C	NCBI36
NG_008653.1:g.8425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.999A>G	ENSP00000507321.1:p.Arg333=
ENST00000299427.12:c.1113A>G MANE Select	ENSP00000299427.6:p.Arg371=
ENST00000436873.7:c.350A>G
ENST00000524924.2:n.233A>G
ENST00000533371.6:c.384A>G	ENSP00000437066.1:p.Arg128=
ENST00000642892.1:c.384A>G	ENSP00000494165.1:p.Arg128=
ENST00000643342.1:c.203A>G
ENST00000643439.1:c.*853A>G	ENSP00000495849.1:n.*853A>G
ENST00000643479.1:n.1299A>G
ENST00000643516.1:c.622A>G
ENST00000644218.1:c.924A>G	ENSP00000493574.1:p.Arg308=
ENST00000644683.1:c.*566A>G	ENSP00000494085.1:n.*566A>G
ENST00000644810.1:c.834A>G	ENSP00000495895.1:p.Arg278=
ENST00000644831.1:n.1289A>G
ENST00000644933.1:c.384A>G	ENSP00000496133.1:p.Arg128=
ENST00000645285.1:c.195A>G	ENSP00000495058.1:p.Arg65=
ENST00000645331.1:n.1876A>G
ENST00000645620.1:c.384A>G	ENSP00000493657.1:p.Arg128=
ENST00000646691.1:n.446A>G
ENST00000646777.1:n.1446A>G
ENST00000647016.1:n.1593A>G
ENST00000647152.1:c.384A>G	ENSP00000495893.1:p.Arg128=
ENST00000647209.1:c.*982A>G	ENSP00000495558.1:n.*982A>G
ENST00000647346.1:n.2133A>G
ENST00000299427.10:c.1113A>G	ENSP00000299427.6:p.Arg371=
ENST00000524924.1:n.68A>G
ENST00000533371.5:c.384A>G	ENSP00000437066.1:p.Arg128=
ENST00000611494.4:c.1113A>G	ENSP00000484546.1:p.Arg371=
NM_000391.3:c.1113A>G	NP_000382.3:p.Arg371=
NM_000391.4:c.1113A>G MANE Select	NP_000382.3:p.Arg371=