Canonical Allele Identifier: CA2612256324

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614494-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614494G>C , CM000673.2:g.6614494G>C	GRCh38
NC_000011.9:g.6635725G>C , CM000673.1:g.6635725G>C	GRCh37
NC_000011.8:g.6592301G>C	NCBI36
NG_008653.1:g.9968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*52C>G	ENSP00000507321.1:n.*52C>G
ENST00000299427.12:c.*52C>G MANE Select	ENSP00000299427.6:n.*52C>G
ENST00000524611.2:n.783C>G
ENST00000533371.6:c.*52C>G	ENSP00000437066.1:n.*52C>G
ENST00000642892.1:c.*52C>G	ENSP00000494165.1:n.*52C>G
ENST00000643342.1:c.817C>G
ENST00000643439.1:c.*1484C>G	ENSP00000495849.1:n.*1484C>G
ENST00000643479.1:n.1930C>G
ENST00000643516.1:c.1253C>G
ENST00000644218.1:c.*52C>G	ENSP00000493574.1:n.*52C>G
ENST00000644683.1:c.*1197C>G	ENSP00000494085.1:n.*1197C>G
ENST00000644810.1:c.*52C>G	ENSP00000495895.1:n.*52C>G
ENST00000644831.1:n.1920C>G
ENST00000644933.1:c.*610C>G	ENSP00000496133.1:n.*610C>G
ENST00000645285.1:c.*610C>G	ENSP00000495058.1:n.*610C>G
ENST00000645331.1:n.2949C>G
ENST00000645620.1:c.*52C>G	ENSP00000493657.1:n.*52C>G
ENST00000646691.1:n.1631C>G
ENST00000646777.1:n.2077C>G
ENST00000647016.1:n.2224C>G
ENST00000647152.1:c.*52C>G	ENSP00000495893.1:n.*52C>G
ENST00000647209.1:c.*1613C>G	ENSP00000495558.1:n.*1613C>G
ENST00000647346.1:n.2764C>G
ENST00000299427.10:c.*52C>G	ENSP00000299427.6:n.*52C>G
ENST00000533371.5:c.*52C>G	ENSP00000437066.1:n.*52C>G
ENST00000611494.4:c.*72C>G	ENSP00000484546.1:n.*72C>G
NM_000391.3:c.*52C>G	NP_000382.3:n.*52C>G
NM_000391.4:c.*52C>G MANE Select	NP_000382.3:n.*52C>G