Canonical Allele Identifier: CA934783829
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs746684650
gnomAD v3: 11-6616629-C-T
gnomAD v4: 11-6616629-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616629C>T , CM000673.2:g.6616629C>T GRCh38
NC_000011.9:g.6637860C>T , CM000673.1:g.6637860C>T GRCh37
NC_000011.8:g.6594436C>T NCBI36
NG_008653.1:g.7833G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.772+32G>A ENSP00000507321.1:n.772+32G>A
ENST00000299427.12:c.886+32G>A MANE Select ENSP00000299427.6:n.886+32G>A
ENST00000436873.7:c.313-555G>A
ENST00000524788.2:n.2077G>A
ENST00000524903.2:n.2193G>A
ENST00000528807.2:n.574G>A
ENST00000530040.2:n.480-126G>A
ENST00000533371.6:c.157+32G>A ENSP00000437066.1:n.157+32G>A
ENST00000642892.1:c.157+32G>A ENSP00000494165.1:n.157+32G>A
ENST00000643439.1:c.*626+32G>A ENSP00000495849.1:n.*626+32G>A
ENST00000643479.1:n.947G>A
ENST00000643516.1:c.396-126G>A
ENST00000644218.1:c.886+32G>A ENSP00000493574.1:n.886+32G>A
ENST00000644683.1:c.*339+32G>A ENSP00000494085.1:n.*339+32G>A
ENST00000644810.1:c.607+32G>A ENSP00000495895.1:n.607+32G>A
ENST00000644831.1:n.1062+32G>A
ENST00000644933.1:c.157+32G>A ENSP00000496133.1:n.157+32G>A
ENST00000645020.1:n.2208G>A
ENST00000645285.1:c.157+32G>A ENSP00000495058.1:n.157+32G>A
ENST00000645331.1:n.1284G>A
ENST00000645620.1:c.157+32G>A ENSP00000493657.1:n.157+32G>A
ENST00000646777.1:n.1094G>A
ENST00000647016.1:n.1366+32G>A
ENST00000647152.1:c.157+32G>A ENSP00000495893.1:n.157+32G>A
ENST00000647209.1:c.*755+32G>A ENSP00000495558.1:n.*755+32G>A
ENST00000647346.1:n.1906+32G>A
ENST00000299427.10:c.886+32G>A ENSP00000299427.6:n.886+32G>A
ENST00000436873.6:c.451-126G>A ENSP00000398136.2:n.451-126G>A
ENST00000528807.1:n.468G>A
ENST00000533371.5:c.157+32G>A ENSP00000437066.1:n.157+32G>A
ENST00000611494.4:c.886+32G>A ENSP00000484546.1:n.886+32G>A
NM_000391.3:c.886+32G>A NP_000382.3:n.886+32G>A
NM_000391.4:c.886+32G>A MANE Select NP_000382.3:n.886+32G>A