Canonical Allele Identifier: CA379471940

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635790A>C (hg19) ; chr11:g.6614559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614559A>C , CM000673.2:g.6614559A>C	GRCh38
NC_000011.9:g.6635790A>C , CM000673.1:g.6635790A>C	GRCh37
NC_000011.8:g.6592366A>C	NCBI36
NG_008653.1:g.9903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1565T>G	ENSP00000507321.1:p.Leu522Arg
ENST00000299427.12:c.1679T>G MANE Select	ENSP00000299427.6:p.Leu560Arg
ENST00000524611.2:n.718T>G
ENST00000533371.6:c.950T>G	ENSP00000437066.1:p.Leu317Arg
ENST00000642892.1:c.950T>G	ENSP00000494165.1:p.Leu317Arg
ENST00000643342.1:c.752T>G
ENST00000643439.1:c.*1419T>G	ENSP00000495849.1:n.*1419T>G
ENST00000643479.1:n.1865T>G
ENST00000643516.1:c.1188T>G
ENST00000644218.1:c.1490T>G	ENSP00000493574.1:p.Leu497Arg
ENST00000644683.1:c.*1132T>G	ENSP00000494085.1:n.*1132T>G
ENST00000644810.1:c.1400T>G	ENSP00000495895.1:p.Leu467Arg
ENST00000644831.1:n.1855T>G
ENST00000644933.1:c.*545T>G	ENSP00000496133.1:n.*545T>G
ENST00000645285.1:c.*545T>G	ENSP00000495058.1:n.*545T>G
ENST00000645331.1:n.2884T>G
ENST00000645620.1:c.950T>G	ENSP00000493657.1:p.Leu317Arg
ENST00000646691.1:n.1566T>G
ENST00000646777.1:n.2012T>G
ENST00000647016.1:n.2159T>G
ENST00000647152.1:c.950T>G	ENSP00000495893.1:p.Leu317Arg
ENST00000647209.1:c.*1548T>G	ENSP00000495558.1:n.*1548T>G
ENST00000647346.1:n.2699T>G
ENST00000299427.10:c.1679T>G	ENSP00000299427.6:p.Leu560Arg
ENST00000533371.5:c.950T>G	ENSP00000437066.1:p.Leu317Arg
ENST00000611494.4:c.*7T>G	ENSP00000484546.1:n.*7T>G
NM_000391.3:c.1679T>G	NP_000382.3:p.Leu560Arg
NM_000391.4:c.1679T>G MANE Select	NP_000382.3:p.Leu560Arg