Canonical Allele Identifier: CA2612255920
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617260-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617260G>T , CM000673.2:g.6617260G>T GRCh38
NC_000011.9:g.6638491G>T , CM000673.1:g.6638491G>T GRCh37
NC_000011.8:g.6595067G>T NCBI36
NG_008653.1:g.7202C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.394+41C>A ENSP00000507321.1:n.394+41C>A
ENST00000299427.12:c.508+41C>A MANE Select ENSP00000299427.6:n.508+41C>A
ENST00000428886.7:n.637C>A
ENST00000436873.7:c.312+41C>A
ENST00000524788.2:n.1561C>A
ENST00000524903.2:n.1677C>A
ENST00000528571.6:c.*289C>A ENSP00000434647.1:n.*289C>A
ENST00000528807.2:n.164+41C>A
ENST00000530040.2:n.479+99C>A
ENST00000533371.6:c.-222+41C>A ENSP00000437066.1:n.-222+41C>A
ENST00000534644.6:n.456+94C>A
ENST00000642892.1:c.-222+94C>A ENSP00000494165.1:n.-222+94C>A
ENST00000643439.1:c.*248+41C>A ENSP00000495849.1:n.*248+41C>A
ENST00000643479.1:n.537+41C>A
ENST00000643516.1:c.395+41C>A
ENST00000644151.1:n.1841C>A
ENST00000644218.1:c.508+41C>A ENSP00000493574.1:n.508+41C>A
ENST00000644683.1:c.450+99C>A ENSP00000494085.1:n.450+99C>A
ENST00000644810.1:c.230-107C>A ENSP00000495895.1:n.230-107C>A
ENST00000644831.1:n.578C>A
ENST00000644933.1:c.-222+41C>A ENSP00000496133.1:n.-222+41C>A
ENST00000645020.1:n.1577C>A
ENST00000645285.1:c.-222+41C>A ENSP00000495058.1:n.-222+41C>A
ENST00000645331.1:n.768C>A
ENST00000645620.1:c.-222+99C>A ENSP00000493657.1:n.-222+99C>A
ENST00000646777.1:n.578C>A
ENST00000647016.1:n.882C>A
ENST00000647152.1:c.-222+41C>A ENSP00000495893.1:n.-222+41C>A
ENST00000647209.1:c.*377+41C>A ENSP00000495558.1:n.*377+41C>A
ENST00000647346.1:n.1528+41C>A
ENST00000299427.10:c.508+41C>A ENSP00000299427.6:n.508+41C>A
ENST00000428886.6:n.571C>A
ENST00000436873.6:c.450+99C>A ENSP00000398136.2:n.450+99C>A
ENST00000524788.1:n.102C>A
ENST00000528571.5:c.*248+41C>A ENSP00000434647.1:n.*248+41C>A
ENST00000533371.5:c.-222+41C>A ENSP00000437066.1:n.-222+41C>A
ENST00000534644.5:n.493+41C>A
ENST00000611494.4:c.508+41C>A ENSP00000484546.1:n.508+41C>A
NM_000391.3:c.508+41C>A NP_000382.3:n.508+41C>A
NM_000391.4:c.508+41C>A MANE Select NP_000382.3:n.508+41C>A