Canonical Allele Identifier: CA1950232578
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614568A= , CM000673.2:g.6614568A= GRCh38
NC_000011.9:g.6635799A= , CM000673.1:g.6635799A= GRCh37
NC_000011.8:g.6592375A= NCBI36
NG_008653.1:g.9894T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1556T= ENSP00000507321.1:p.Leu519=
ENST00000299427.12:c.1670T= MANE Select ENSP00000299427.6:p.Leu557=
ENST00000524611.2:n.709T=
ENST00000533371.6:c.941T= ENSP00000437066.1:p.Leu314=
ENST00000642892.1:c.941T= ENSP00000494165.1:p.Leu314=
ENST00000643342.1:c.743T=
ENST00000643439.1:c.*1410T= ENSP00000495849.1:n.*1410T=
ENST00000643479.1:n.1856T=
ENST00000643516.1:c.1179T=
ENST00000644218.1:c.1481T= ENSP00000493574.1:p.Leu494=
ENST00000644683.1:c.*1123T= ENSP00000494085.1:n.*1123T=
ENST00000644810.1:c.1391T= ENSP00000495895.1:p.Leu464=
ENST00000644831.1:n.1846T=
ENST00000644933.1:c.*536T= ENSP00000496133.1:n.*536T=
ENST00000645285.1:c.*536T= ENSP00000495058.1:n.*536T=
ENST00000645331.1:n.2875T=
ENST00000645620.1:c.941T= ENSP00000493657.1:p.Leu314=
ENST00000646691.1:n.1557T=
ENST00000646777.1:n.2003T=
ENST00000647016.1:n.2150T=
ENST00000647152.1:c.941T= ENSP00000495893.1:p.Leu314=
ENST00000647209.1:c.*1539T= ENSP00000495558.1:n.*1539T=
ENST00000647346.1:n.2690T=
ENST00000299427.10:c.1670T= ENSP00000299427.6:p.Leu557=
ENST00000533371.5:c.941T= ENSP00000437066.1:p.Leu314=
ENST00000611494.4:c.1669T= ENSP00000484546.1:p.Ter557=
NM_000391.3:c.1670T= NP_000382.3:p.Leu557=
NM_000391.4:c.1670T= MANE Select NP_000382.3:p.Leu557=