Canonical Allele Identifier: CA379476293
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617674-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617674C>T , CM000673.2:g.6617674C>T GRCh38
NC_000011.9:g.6638905C>T , CM000673.1:g.6638905C>T GRCh37
NC_000011.8:g.6595481C>T NCBI36
NG_008653.1:g.6788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.218G>A ENSP00000507321.1:p.Cys73Tyr
ENST00000299427.12:c.332G>A MANE Select ENSP00000299427.6:p.Cys111Tyr
ENST00000428886.7:n.420G>A
ENST00000436873.7:c.136G>A
ENST00000524788.2:n.1344G>A
ENST00000524903.2:n.1460G>A
ENST00000528571.6:c.*72G>A ENSP00000434647.1:n.*72G>A
ENST00000530040.2:n.361G>A
ENST00000533371.6:c.-398G>A ENSP00000437066.1:n.-398G>A
ENST00000534644.6:n.333G>A
ENST00000642892.1:c.-345G>A ENSP00000494165.1:n.-345G>A
ENST00000643439.1:c.*72G>A ENSP00000495849.1:n.*72G>A
ENST00000643479.1:n.361G>A
ENST00000643516.1:c.219G>A
ENST00000644151.1:n.1624G>A
ENST00000644218.1:c.332G>A ENSP00000493574.1:p.Cys111Tyr
ENST00000644683.1:c.332G>A ENSP00000494085.1:p.Cys111Tyr
ENST00000644810.1:c.230-521G>A ENSP00000495895.1:n.230-521G>A
ENST00000644831.1:n.361G>A
ENST00000644933.1:c.-398G>A ENSP00000496133.1:n.-398G>A
ENST00000645020.1:n.1360G>A
ENST00000645285.1:c.-398G>A ENSP00000495058.1:n.-398G>A
ENST00000645331.1:n.354G>A
ENST00000645620.1:c.-340G>A ENSP00000493657.1:n.-340G>A
ENST00000646777.1:n.361G>A
ENST00000647016.1:n.665G>A
ENST00000647152.1:c.-398G>A ENSP00000495893.1:n.-398G>A
ENST00000647209.1:c.*201G>A ENSP00000495558.1:n.*201G>A
ENST00000647346.1:n.1352G>A
ENST00000299427.10:c.332G>A ENSP00000299427.6:p.Cys111Tyr
ENST00000428886.6:n.354G>A
ENST00000436873.6:c.332G>A ENSP00000398136.2:p.Cys111Tyr
ENST00000528571.5:c.*72G>A ENSP00000434647.1:n.*72G>A
ENST00000530040.1:n.444G>A
ENST00000533371.5:c.-398G>A ENSP00000437066.1:n.-398G>A
ENST00000534644.5:n.317G>A
ENST00000611494.4:c.332G>A ENSP00000484546.1:p.Cys111Tyr
NM_000391.3:c.332G>A NP_000382.3:p.Cys111Tyr
NM_000391.4:c.332G>A MANE Select NP_000382.3:p.Cys111Tyr