Canonical Allele Identifier: CA2612256348

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614528-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614528T>C , CM000673.2:g.6614528T>C	GRCh38
NC_000011.9:g.6635759T>C , CM000673.1:g.6635759T>C	GRCh37
NC_000011.8:g.6592335T>C	NCBI36
NG_008653.1:g.9934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*18A>G	ENSP00000507321.1:n.*18A>G
ENST00000299427.12:c.*18A>G MANE Select	ENSP00000299427.6:n.*18A>G
ENST00000524611.2:n.749A>G
ENST00000533371.6:c.*18A>G	ENSP00000437066.1:n.*18A>G
ENST00000642892.1:c.*18A>G	ENSP00000494165.1:n.*18A>G
ENST00000643342.1:c.783A>G
ENST00000643439.1:c.*1450A>G	ENSP00000495849.1:n.*1450A>G
ENST00000643479.1:n.1896A>G
ENST00000643516.1:c.1219A>G
ENST00000644218.1:c.*18A>G	ENSP00000493574.1:n.*18A>G
ENST00000644683.1:c.*1163A>G	ENSP00000494085.1:n.*1163A>G
ENST00000644810.1:c.*18A>G	ENSP00000495895.1:n.*18A>G
ENST00000644831.1:n.1886A>G
ENST00000644933.1:c.*576A>G	ENSP00000496133.1:n.*576A>G
ENST00000645285.1:c.*576A>G	ENSP00000495058.1:n.*576A>G
ENST00000645331.1:n.2915A>G
ENST00000645620.1:c.*18A>G	ENSP00000493657.1:n.*18A>G
ENST00000646691.1:n.1597A>G
ENST00000646777.1:n.2043A>G
ENST00000647016.1:n.2190A>G
ENST00000647152.1:c.*18A>G	ENSP00000495893.1:n.*18A>G
ENST00000647209.1:c.*1579A>G	ENSP00000495558.1:n.*1579A>G
ENST00000647346.1:n.2730A>G
ENST00000299427.10:c.*18A>G	ENSP00000299427.6:n.*18A>G
ENST00000533371.5:c.*18A>G	ENSP00000437066.1:n.*18A>G
ENST00000611494.4:c.*38A>G	ENSP00000484546.1:n.*38A>G
NM_000391.3:c.*18A>G	NP_000382.3:n.*18A>G
NM_000391.4:c.*18A>G MANE Select	NP_000382.3:n.*18A>G