Canonical Allele Identifier: CA1950234061
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615249G= , CM000673.2:g.6615249G= GRCh38
NC_000011.9:g.6636480G= , CM000673.1:g.6636480G= GRCh37
NC_000011.8:g.6593056G= NCBI36
NG_008653.1:g.9213C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1233C= ENSP00000507321.1:p.Tyr411=
ENST00000299427.12:c.1347C= MANE Select ENSP00000299427.6:p.Tyr449=
ENST00000524611.2:n.207C=
ENST00000524924.2:n.467C=
ENST00000533371.6:c.618C= ENSP00000437066.1:p.Tyr206=
ENST00000642892.1:c.618C= ENSP00000494165.1:p.Tyr206=
ENST00000643342.1:c.420C=
ENST00000643439.1:c.*1087C= ENSP00000495849.1:n.*1087C=
ENST00000643479.1:n.1533C=
ENST00000643516.1:c.856C=
ENST00000644218.1:c.1158C= ENSP00000493574.1:p.Tyr386=
ENST00000644683.1:c.*800C= ENSP00000494085.1:n.*800C=
ENST00000644810.1:c.1068C= ENSP00000495895.1:p.Tyr356=
ENST00000644831.1:n.1523C=
ENST00000644933.1:c.*213C= ENSP00000496133.1:n.*213C=
ENST00000645285.1:c.*213C= ENSP00000495058.1:n.*213C=
ENST00000645331.1:n.2552C=
ENST00000645620.1:c.618C= ENSP00000493657.1:p.Tyr206=
ENST00000646691.1:n.1234C=
ENST00000646777.1:n.1680C=
ENST00000647016.1:n.1827C=
ENST00000647152.1:c.618C= ENSP00000495893.1:p.Tyr206=
ENST00000647209.1:c.*1216C= ENSP00000495558.1:n.*1216C=
ENST00000647346.1:n.2367C=
ENST00000299427.10:c.1347C= ENSP00000299427.6:p.Tyr449=
ENST00000524611.1:n.225C=
ENST00000532191.1:n.400C=
ENST00000533371.5:c.618C= ENSP00000437066.1:p.Tyr206=
ENST00000611494.4:c.1347C= ENSP00000484546.1:p.Tyr449=
NM_000391.3:c.1347C= NP_000382.3:p.Tyr449=
NM_000391.4:c.1347C= MANE Select NP_000382.3:p.Tyr449=