Canonical Allele Identifier: CA379472792

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636538A>C (hg19) ; chr11:g.6615307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615307A>C , CM000673.2:g.6615307A>C	GRCh38
NC_000011.9:g.6636538A>C , CM000673.1:g.6636538A>C	GRCh37
NC_000011.8:g.6593114A>C	NCBI36
NG_008653.1:g.9155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1175T>G	ENSP00000507321.1:p.Leu392Arg
ENST00000299427.12:c.1289T>G MANE Select	ENSP00000299427.6:p.Leu430Arg
ENST00000524611.2:n.149T>G
ENST00000524924.2:n.409T>G
ENST00000533371.6:c.560T>G	ENSP00000437066.1:p.Leu187Arg
ENST00000642892.1:c.560T>G	ENSP00000494165.1:p.Leu187Arg
ENST00000643342.1:c.362T>G
ENST00000643439.1:c.*1029T>G	ENSP00000495849.1:n.*1029T>G
ENST00000643479.1:n.1475T>G
ENST00000643516.1:c.798T>G
ENST00000644218.1:c.1100T>G	ENSP00000493574.1:p.Leu367Arg
ENST00000644683.1:c.*742T>G	ENSP00000494085.1:n.*742T>G
ENST00000644810.1:c.1010T>G	ENSP00000495895.1:p.Leu337Arg
ENST00000644831.1:n.1465T>G
ENST00000644933.1:c.*155T>G	ENSP00000496133.1:n.*155T>G
ENST00000645285.1:c.*155T>G	ENSP00000495058.1:n.*155T>G
ENST00000645331.1:n.2494T>G
ENST00000645620.1:c.560T>G	ENSP00000493657.1:p.Leu187Arg
ENST00000646691.1:n.1176T>G
ENST00000646777.1:n.1622T>G
ENST00000647016.1:n.1769T>G
ENST00000647152.1:c.560T>G	ENSP00000495893.1:p.Leu187Arg
ENST00000647209.1:c.*1158T>G	ENSP00000495558.1:n.*1158T>G
ENST00000647346.1:n.2309T>G
ENST00000299427.10:c.1289T>G	ENSP00000299427.6:p.Leu430Arg
ENST00000524611.1:n.167T>G
ENST00000524924.1:n.244T>G
ENST00000532191.1:n.342T>G
ENST00000533371.5:c.560T>G	ENSP00000437066.1:p.Leu187Arg
ENST00000611494.4:c.1289T>G	ENSP00000484546.1:p.Leu430Arg
NM_000391.3:c.1289T>G	NP_000382.3:p.Leu430Arg
NM_000391.4:c.1289T>G MANE Select	NP_000382.3:p.Leu430Arg