Canonical Allele Identifier: CA5858918
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs764863774
gnomAD v2: 11-6638439-C-T
gnomAD v3: 11-6617208-C-T
gnomAD v4: 11-6617208-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617208C>T , CM000673.2:g.6617208C>T GRCh38
NC_000011.9:g.6638439C>T , CM000673.1:g.6638439C>T GRCh37
NC_000011.8:g.6595015C>T NCBI36
NG_008653.1:g.7254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.395-55G>A ENSP00000507321.1:n.395-55G>A
ENST00000299427.12:c.509-55G>A MANE Select ENSP00000299427.6:n.509-55G>A
ENST00000428886.7:n.689G>A
ENST00000436873.7:c.312+93G>A
ENST00000524788.2:n.1613G>A
ENST00000524903.2:n.1729G>A
ENST00000528571.6:c.*341G>A ENSP00000434647.1:n.*341G>A
ENST00000528807.2:n.165-55G>A
ENST00000530040.2:n.479+151G>A
ENST00000533371.6:c.-221-55G>A ENSP00000437066.1:n.-221-55G>A
ENST00000534644.6:n.457-55G>A
ENST00000642892.1:c.-221-55G>A ENSP00000494165.1:n.-221-55G>A
ENST00000643439.1:c.*249-55G>A ENSP00000495849.1:n.*249-55G>A
ENST00000643479.1:n.538-55G>A
ENST00000643516.1:c.395+93G>A
ENST00000644151.1:n.1893G>A
ENST00000644218.1:c.509-55G>A ENSP00000493574.1:n.509-55G>A
ENST00000644683.1:c.451-55G>A ENSP00000494085.1:n.451-55G>A
ENST00000644810.1:c.230-55G>A ENSP00000495895.1:n.230-55G>A
ENST00000644831.1:n.630G>A
ENST00000644933.1:c.-221-55G>A ENSP00000496133.1:n.-221-55G>A
ENST00000645020.1:n.1629G>A
ENST00000645285.1:c.-221-55G>A ENSP00000495058.1:n.-221-55G>A
ENST00000645331.1:n.820G>A
ENST00000645620.1:c.-221-55G>A ENSP00000493657.1:n.-221-55G>A
ENST00000646777.1:n.630G>A
ENST00000647016.1:n.934G>A
ENST00000647152.1:c.-221-55G>A ENSP00000495893.1:n.-221-55G>A
ENST00000647209.1:c.*378-55G>A ENSP00000495558.1:n.*378-55G>A
ENST00000647346.1:n.1529-55G>A
ENST00000299427.10:c.509-55G>A ENSP00000299427.6:n.509-55G>A
ENST00000428886.6:n.623G>A
ENST00000436873.6:c.450+151G>A ENSP00000398136.2:n.450+151G>A
ENST00000524788.1:n.154G>A
ENST00000528571.5:c.*249-55G>A ENSP00000434647.1:n.*249-55G>A
ENST00000528807.1:n.4G>A
ENST00000533371.5:c.-221-55G>A ENSP00000437066.1:n.-221-55G>A
ENST00000534644.5:n.494-55G>A
ENST00000611494.4:c.509-55G>A ENSP00000484546.1:n.509-55G>A
NM_000391.3:c.509-55G>A NP_000382.3:n.509-55G>A
NM_000391.4:c.509-55G>A MANE Select NP_000382.3:n.509-55G>A