Canonical Allele Identifier: CA2612255925

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617264-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617264T>C , CM000673.2:g.6617264T>C	GRCh38
NC_000011.9:g.6638495T>C , CM000673.1:g.6638495T>C	GRCh37
NC_000011.8:g.6595071T>C	NCBI36
NG_008653.1:g.7198A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.394+37A>G	ENSP00000507321.1:n.394+37A>G
ENST00000299427.12:c.508+37A>G MANE Select	ENSP00000299427.6:n.508+37A>G
ENST00000428886.7:n.633A>G
ENST00000436873.7:c.312+37A>G
ENST00000524788.2:n.1557A>G
ENST00000524903.2:n.1673A>G
ENST00000528571.6:c.*285A>G	ENSP00000434647.1:n.*285A>G
ENST00000528807.2:n.164+37A>G
ENST00000530040.2:n.479+95A>G
ENST00000533371.6:c.-222+37A>G	ENSP00000437066.1:n.-222+37A>G
ENST00000534644.6:n.456+90A>G
ENST00000642892.1:c.-222+90A>G	ENSP00000494165.1:n.-222+90A>G
ENST00000643439.1:c.*248+37A>G	ENSP00000495849.1:n.*248+37A>G
ENST00000643479.1:n.537+37A>G
ENST00000643516.1:c.395+37A>G
ENST00000644151.1:n.1837A>G
ENST00000644218.1:c.508+37A>G	ENSP00000493574.1:n.508+37A>G
ENST00000644683.1:c.450+95A>G	ENSP00000494085.1:n.450+95A>G
ENST00000644810.1:c.230-111A>G	ENSP00000495895.1:n.230-111A>G
ENST00000644831.1:n.574A>G
ENST00000644933.1:c.-222+37A>G	ENSP00000496133.1:n.-222+37A>G
ENST00000645020.1:n.1573A>G
ENST00000645285.1:c.-222+37A>G	ENSP00000495058.1:n.-222+37A>G
ENST00000645331.1:n.764A>G
ENST00000645620.1:c.-222+95A>G	ENSP00000493657.1:n.-222+95A>G
ENST00000646777.1:n.574A>G
ENST00000647016.1:n.878A>G
ENST00000647152.1:c.-222+37A>G	ENSP00000495893.1:n.-222+37A>G
ENST00000647209.1:c.*377+37A>G	ENSP00000495558.1:n.*377+37A>G
ENST00000647346.1:n.1528+37A>G
ENST00000299427.10:c.508+37A>G	ENSP00000299427.6:n.508+37A>G
ENST00000428886.6:n.567A>G
ENST00000436873.6:c.450+95A>G	ENSP00000398136.2:n.450+95A>G
ENST00000524788.1:n.98A>G
ENST00000528571.5:c.*248+37A>G	ENSP00000434647.1:n.*248+37A>G
ENST00000533371.5:c.-222+37A>G	ENSP00000437066.1:n.-222+37A>G
ENST00000534644.5:n.493+37A>G
ENST00000611494.4:c.508+37A>G	ENSP00000484546.1:n.508+37A>G
NM_000391.3:c.508+37A>G	NP_000382.3:n.508+37A>G
NM_000391.4:c.508+37A>G MANE Select	NP_000382.3:n.508+37A>G