Canonical Allele Identifier: CA379475338
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616991C>T , CM000673.2:g.6616991C>T GRCh38
NC_000011.9:g.6638222C>T , CM000673.1:g.6638222C>T GRCh37
NC_000011.8:g.6594798C>T NCBI36
NG_008653.1:g.7471G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.557G>A ENSP00000507321.1:p.Ser186Asn
ENST00000299427.12:c.671G>A MANE Select ENSP00000299427.6:p.Ser224Asn
ENST00000436873.7:c.312+310G>A
ENST00000524788.2:n.1830G>A
ENST00000524903.2:n.1946G>A
ENST00000528807.2:n.327G>A
ENST00000530040.2:n.479+368G>A
ENST00000533371.6:c.-59G>A ENSP00000437066.1:n.-59G>A
ENST00000534644.6:n.619G>A
ENST00000642892.1:c.-59G>A ENSP00000494165.1:n.-59G>A
ENST00000643439.1:c.*411G>A ENSP00000495849.1:n.*411G>A
ENST00000643479.1:n.700G>A
ENST00000643516.1:c.395+310G>A
ENST00000644151.1:n.2110G>A
ENST00000644218.1:c.671G>A ENSP00000493574.1:p.Ser224Asn
ENST00000644683.1:c.*124G>A ENSP00000494085.1:n.*124G>A
ENST00000644810.1:c.392G>A ENSP00000495895.1:p.Ser131Asn
ENST00000644831.1:n.847G>A
ENST00000644933.1:c.-59G>A ENSP00000496133.1:n.-59G>A
ENST00000645020.1:n.1846G>A
ENST00000645285.1:c.-59G>A ENSP00000495058.1:n.-59G>A
ENST00000645331.1:n.1037G>A
ENST00000645620.1:c.-59G>A ENSP00000493657.1:n.-59G>A
ENST00000646777.1:n.847G>A
ENST00000647016.1:n.1151G>A
ENST00000647152.1:c.-59G>A ENSP00000495893.1:n.-59G>A
ENST00000647209.1:c.*540G>A ENSP00000495558.1:n.*540G>A
ENST00000647346.1:n.1691G>A
ENST00000299427.10:c.671G>A ENSP00000299427.6:p.Ser224Asn
ENST00000428886.6:n.840G>A
ENST00000436873.6:c.450+368G>A ENSP00000398136.2:n.450+368G>A
ENST00000524788.1:n.371G>A
ENST00000528571.5:c.*411G>A ENSP00000434647.1:n.*411G>A
ENST00000528807.1:n.221G>A
ENST00000533371.5:c.-59G>A ENSP00000437066.1:n.-59G>A
ENST00000611494.4:c.671G>A ENSP00000484546.1:p.Ser224Asn
NM_000391.3:c.671G>A NP_000382.3:p.Ser224Asn
NM_000391.4:c.671G>A MANE Select NP_000382.3:p.Ser224Asn