Canonical Allele Identifier: CA379475743

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638564A>C (hg19) ; chr11:g.6617333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617333A>C , CM000673.2:g.6617333A>C	GRCh38
NC_000011.9:g.6638564A>C , CM000673.1:g.6638564A>C	GRCh37
NC_000011.8:g.6595140A>C	NCBI36
NG_008653.1:g.7129T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.362T>G	ENSP00000507321.1:p.Leu121Arg
ENST00000299427.12:c.476T>G MANE Select	ENSP00000299427.6:p.Leu159Arg
ENST00000428886.7:n.564T>G
ENST00000436873.7:c.280T>G
ENST00000524788.2:n.1488T>G
ENST00000524903.2:n.1604T>G
ENST00000528571.6:c.*216T>G	ENSP00000434647.1:n.*216T>G
ENST00000528807.2:n.132T>G
ENST00000530040.2:n.479+26T>G
ENST00000533371.6:c.-254T>G	ENSP00000437066.1:n.-254T>G
ENST00000534644.6:n.456+21T>G
ENST00000642892.1:c.-222+21T>G	ENSP00000494165.1:n.-222+21T>G
ENST00000643439.1:c.*216T>G	ENSP00000495849.1:n.*216T>G
ENST00000643479.1:n.505T>G
ENST00000643516.1:c.363T>G
ENST00000644151.1:n.1768T>G
ENST00000644218.1:c.476T>G	ENSP00000493574.1:p.Leu159Arg
ENST00000644683.1:c.450+26T>G	ENSP00000494085.1:n.450+26T>G
ENST00000644810.1:c.230-180T>G	ENSP00000495895.1:n.230-180T>G
ENST00000644831.1:n.505T>G
ENST00000644933.1:c.-254T>G	ENSP00000496133.1:n.-254T>G
ENST00000645020.1:n.1504T>G
ENST00000645285.1:c.-254T>G	ENSP00000495058.1:n.-254T>G
ENST00000645331.1:n.695T>G
ENST00000645620.1:c.-222+26T>G	ENSP00000493657.1:n.-222+26T>G
ENST00000646777.1:n.505T>G
ENST00000647016.1:n.809T>G
ENST00000647152.1:c.-254T>G	ENSP00000495893.1:n.-254T>G
ENST00000647209.1:c.*345T>G	ENSP00000495558.1:n.*345T>G
ENST00000647346.1:n.1496T>G
ENST00000299427.10:c.476T>G	ENSP00000299427.6:p.Leu159Arg
ENST00000428886.6:n.498T>G
ENST00000436873.6:c.450+26T>G	ENSP00000398136.2:n.450+26T>G
ENST00000524788.1:n.29T>G
ENST00000528571.5:c.*216T>G	ENSP00000434647.1:n.*216T>G
ENST00000533371.5:c.-254T>G	ENSP00000437066.1:n.-254T>G
ENST00000534644.5:n.461T>G
ENST00000611494.4:c.476T>G	ENSP00000484546.1:p.Leu159Arg
NM_000391.3:c.476T>G	NP_000382.3:p.Leu159Arg
NM_000391.4:c.476T>G MANE Select	NP_000382.3:p.Leu159Arg