Canonical Allele Identifier: CA1950236567
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616427A= , CM000673.2:g.6616427A= GRCh38
NC_000011.9:g.6637658A= , CM000673.1:g.6637658A= GRCh37
NC_000011.8:g.6594234A= NCBI36
NG_008653.1:g.8035T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.849T= ENSP00000507321.1:p.His283=
ENST00000299427.12:c.963T= MANE Select ENSP00000299427.6:p.His321=
ENST00000436873.7:c.313-353T=
ENST00000530040.2:n.556T=
ENST00000533371.6:c.234T= ENSP00000437066.1:p.His78=
ENST00000642892.1:c.234T= ENSP00000494165.1:p.His78=
ENST00000643342.1:c.53T=
ENST00000643439.1:c.*703T= ENSP00000495849.1:n.*703T=
ENST00000643479.1:n.1149T=
ENST00000643516.1:c.472T=
ENST00000644218.1:c.886+234T= ENSP00000493574.1:n.886+234T=
ENST00000644683.1:c.*416T= ENSP00000494085.1:n.*416T=
ENST00000644810.1:c.684T= ENSP00000495895.1:p.His228=
ENST00000644831.1:n.1139T=
ENST00000644933.1:c.234T= ENSP00000496133.1:p.His78=
ENST00000645285.1:c.157+234T= ENSP00000495058.1:n.157+234T=
ENST00000645331.1:n.1486T=
ENST00000645620.1:c.234T= ENSP00000493657.1:p.His78=
ENST00000646691.1:n.56T=
ENST00000646777.1:n.1296T=
ENST00000647016.1:n.1443T=
ENST00000647152.1:c.234T= ENSP00000495893.1:p.His78=
ENST00000647209.1:c.*832T= ENSP00000495558.1:n.*832T=
ENST00000647346.1:n.1983T=
ENST00000299427.10:c.963T= ENSP00000299427.6:p.His321=
ENST00000436873.6:c.527T= ENSP00000398136.2:p.Ile176=
ENST00000533371.5:c.234T= ENSP00000437066.1:p.His78=
ENST00000611494.4:c.963T= ENSP00000484546.1:p.His321=
NM_000391.3:c.963T= NP_000382.3:p.His321=
NM_000391.4:c.963T= MANE Select NP_000382.3:p.His321=