Canonical Allele Identifier: CA2574741284
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6616576-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616576C>T , CM000673.2:g.6616576C>T GRCh38
NC_000011.9:g.6637807C>T , CM000673.1:g.6637807C>T GRCh37
NC_000011.8:g.6594383C>T NCBI36
NG_008653.1:g.7886G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.773-73G>A ENSP00000507321.1:n.773-73G>A
ENST00000299427.12:c.887-73G>A MANE Select ENSP00000299427.6:n.887-73G>A
ENST00000436873.7:c.313-502G>A
ENST00000524903.2:n.2246G>A
ENST00000528807.2:n.627G>A
ENST00000530040.2:n.480-73G>A
ENST00000533371.6:c.158-73G>A ENSP00000437066.1:n.158-73G>A
ENST00000642892.1:c.158-73G>A ENSP00000494165.1:n.158-73G>A
ENST00000643439.1:c.*627-73G>A ENSP00000495849.1:n.*627-73G>A
ENST00000643479.1:n.1000G>A
ENST00000643516.1:c.396-73G>A
ENST00000644218.1:c.886+85G>A ENSP00000493574.1:n.886+85G>A
ENST00000644683.1:c.*340-73G>A ENSP00000494085.1:n.*340-73G>A
ENST00000644810.1:c.608-73G>A ENSP00000495895.1:n.608-73G>A
ENST00000644831.1:n.1063-73G>A
ENST00000644933.1:c.158-73G>A ENSP00000496133.1:n.158-73G>A
ENST00000645020.1:n.2261G>A
ENST00000645285.1:c.157+85G>A ENSP00000495058.1:n.157+85G>A
ENST00000645331.1:n.1337G>A
ENST00000645620.1:c.158-73G>A ENSP00000493657.1:n.158-73G>A
ENST00000646777.1:n.1147G>A
ENST00000647016.1:n.1367-73G>A
ENST00000647152.1:c.158-73G>A ENSP00000495893.1:n.158-73G>A
ENST00000647209.1:c.*756-73G>A ENSP00000495558.1:n.*756-73G>A
ENST00000647346.1:n.1907-73G>A
ENST00000299427.10:c.887-73G>A ENSP00000299427.6:n.887-73G>A
ENST00000436873.6:c.451-73G>A ENSP00000398136.2:n.451-73G>A
ENST00000528807.1:n.521G>A
ENST00000533371.5:c.158-73G>A ENSP00000437066.1:n.158-73G>A
ENST00000611494.4:c.887-73G>A ENSP00000484546.1:n.887-73G>A
NM_000391.3:c.887-73G>A NP_000382.3:n.887-73G>A
NM_000391.4:c.887-73G>A MANE Select NP_000382.3:n.887-73G>A