Canonical Allele Identifier: CA2612256323

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614493-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614493T>C , CM000673.2:g.6614493T>C	GRCh38
NC_000011.9:g.6635724T>C , CM000673.1:g.6635724T>C	GRCh37
NC_000011.8:g.6592300T>C	NCBI36
NG_008653.1:g.9969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*53A>G	ENSP00000507321.1:n.*53A>G
ENST00000299427.12:c.*53A>G MANE Select	ENSP00000299427.6:n.*53A>G
ENST00000524611.2:n.784A>G
ENST00000533371.6:c.*53A>G	ENSP00000437066.1:n.*53A>G
ENST00000642892.1:c.*53A>G	ENSP00000494165.1:n.*53A>G
ENST00000643342.1:c.818A>G
ENST00000643439.1:c.*1485A>G	ENSP00000495849.1:n.*1485A>G
ENST00000643479.1:n.1931A>G
ENST00000643516.1:c.1254A>G
ENST00000644218.1:c.*53A>G	ENSP00000493574.1:n.*53A>G
ENST00000644683.1:c.*1198A>G	ENSP00000494085.1:n.*1198A>G
ENST00000644810.1:c.*53A>G	ENSP00000495895.1:n.*53A>G
ENST00000644831.1:n.1921A>G
ENST00000644933.1:c.*611A>G	ENSP00000496133.1:n.*611A>G
ENST00000645285.1:c.*611A>G	ENSP00000495058.1:n.*611A>G
ENST00000645331.1:n.2950A>G
ENST00000645620.1:c.*53A>G	ENSP00000493657.1:n.*53A>G
ENST00000646691.1:n.1632A>G
ENST00000646777.1:n.2078A>G
ENST00000647016.1:n.2225A>G
ENST00000647152.1:c.*53A>G	ENSP00000495893.1:n.*53A>G
ENST00000647209.1:c.*1614A>G	ENSP00000495558.1:n.*1614A>G
ENST00000647346.1:n.2765A>G
ENST00000299427.10:c.*53A>G	ENSP00000299427.6:n.*53A>G
ENST00000533371.5:c.*53A>G	ENSP00000437066.1:n.*53A>G
ENST00000611494.4:c.*73A>G	ENSP00000484546.1:n.*73A>G
NM_000391.3:c.*53A>G	NP_000382.3:n.*53A>G
NM_000391.4:c.*53A>G MANE Select	NP_000382.3:n.*53A>G