Canonical Allele Identifier: CA2612256340

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614514-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614514G>C , CM000673.2:g.6614514G>C	GRCh38
NC_000011.9:g.6635745G>C , CM000673.1:g.6635745G>C	GRCh37
NC_000011.8:g.6592321G>C	NCBI36
NG_008653.1:g.9948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*32C>G	ENSP00000507321.1:n.*32C>G
ENST00000299427.12:c.*32C>G MANE Select	ENSP00000299427.6:n.*32C>G
ENST00000524611.2:n.763C>G
ENST00000533371.6:c.*32C>G	ENSP00000437066.1:n.*32C>G
ENST00000642892.1:c.*32C>G	ENSP00000494165.1:n.*32C>G
ENST00000643342.1:c.797C>G
ENST00000643439.1:c.*1464C>G	ENSP00000495849.1:n.*1464C>G
ENST00000643479.1:n.1910C>G
ENST00000643516.1:c.1233C>G
ENST00000644218.1:c.*32C>G	ENSP00000493574.1:n.*32C>G
ENST00000644683.1:c.*1177C>G	ENSP00000494085.1:n.*1177C>G
ENST00000644810.1:c.*32C>G	ENSP00000495895.1:n.*32C>G
ENST00000644831.1:n.1900C>G
ENST00000644933.1:c.*590C>G	ENSP00000496133.1:n.*590C>G
ENST00000645285.1:c.*590C>G	ENSP00000495058.1:n.*590C>G
ENST00000645331.1:n.2929C>G
ENST00000645620.1:c.*32C>G	ENSP00000493657.1:n.*32C>G
ENST00000646691.1:n.1611C>G
ENST00000646777.1:n.2057C>G
ENST00000647016.1:n.2204C>G
ENST00000647152.1:c.*32C>G	ENSP00000495893.1:n.*32C>G
ENST00000647209.1:c.*1593C>G	ENSP00000495558.1:n.*1593C>G
ENST00000647346.1:n.2744C>G
ENST00000299427.10:c.*32C>G	ENSP00000299427.6:n.*32C>G
ENST00000533371.5:c.*32C>G	ENSP00000437066.1:n.*32C>G
ENST00000611494.4:c.*52C>G	ENSP00000484546.1:n.*52C>G
NM_000391.3:c.*32C>G	NP_000382.3:n.*32C>G
NM_000391.4:c.*32C>G MANE Select	NP_000382.3:n.*32C>G