Canonical Allele Identifier: CA2574741170

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615138-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615138T>C , CM000673.2:g.6615138T>C	GRCh38
NC_000011.9:g.6636369T>C , CM000673.1:g.6636369T>C	GRCh37
NC_000011.8:g.6592945T>C	NCBI36
NG_008653.1:g.9324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1311+33A>G	ENSP00000507321.1:n.1311+33A>G
ENST00000299427.12:c.1425+33A>G MANE Select	ENSP00000299427.6:n.1425+33A>G
ENST00000524611.2:n.285+33A>G
ENST00000524924.2:n.545+33A>G
ENST00000533371.6:c.696+33A>G	ENSP00000437066.1:n.696+33A>G
ENST00000642892.1:c.696+33A>G	ENSP00000494165.1:n.696+33A>G
ENST00000643342.1:c.498+33A>G
ENST00000643439.1:c.*1165+33A>G	ENSP00000495849.1:n.*1165+33A>G
ENST00000643479.1:n.1611+33A>G
ENST00000643516.1:c.934+33A>G
ENST00000644218.1:c.1236+33A>G	ENSP00000493574.1:n.1236+33A>G
ENST00000644683.1:c.*878+33A>G	ENSP00000494085.1:n.*878+33A>G
ENST00000644810.1:c.1146+33A>G	ENSP00000495895.1:n.1146+33A>G
ENST00000644831.1:n.1601+33A>G
ENST00000644933.1:c.*291+33A>G	ENSP00000496133.1:n.*291+33A>G
ENST00000645285.1:c.*291+33A>G	ENSP00000495058.1:n.*291+33A>G
ENST00000645331.1:n.2630+33A>G
ENST00000645620.1:c.696+33A>G	ENSP00000493657.1:n.696+33A>G
ENST00000646691.1:n.1312+33A>G
ENST00000646777.1:n.1758+33A>G
ENST00000647016.1:n.1905+33A>G
ENST00000647152.1:c.696+33A>G	ENSP00000495893.1:n.696+33A>G
ENST00000647209.1:c.*1294+33A>G	ENSP00000495558.1:n.*1294+33A>G
ENST00000647346.1:n.2445+33A>G
ENST00000299427.10:c.1425+33A>G	ENSP00000299427.6:n.1425+33A>G
ENST00000524611.1:n.303+33A>G
ENST00000533371.5:c.696+33A>G	ENSP00000437066.1:n.696+33A>G
ENST00000611494.4:c.1425+33A>G	ENSP00000484546.1:n.1425+33A>G
NM_000391.3:c.1425+33A>G	NP_000382.3:n.1425+33A>G
NM_000391.4:c.1425+33A>G MANE Select	NP_000382.3:n.1425+33A>G