Canonical Allele Identifier: CA379473682

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637249A>C (hg19) ; chr11:g.6616018A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616018A>C , CM000673.2:g.6616018A>C	GRCh38
NC_000011.9:g.6637249A>C , CM000673.1:g.6637249A>C	GRCh37
NC_000011.8:g.6593825A>C	NCBI36
NG_008653.1:g.8444T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1018T>G	ENSP00000507321.1:p.Phe340Val
ENST00000299427.12:c.1132T>G MANE Select	ENSP00000299427.6:p.Phe378Val
ENST00000436873.7:c.369T>G
ENST00000524924.2:n.252T>G
ENST00000533371.6:c.403T>G	ENSP00000437066.1:p.Phe135Val
ENST00000642892.1:c.403T>G	ENSP00000494165.1:p.Phe135Val
ENST00000643342.1:c.222T>G
ENST00000643439.1:c.*872T>G	ENSP00000495849.1:n.*872T>G
ENST00000643479.1:n.1318T>G
ENST00000643516.1:c.641T>G
ENST00000644218.1:c.943T>G	ENSP00000493574.1:p.Phe315Val
ENST00000644683.1:c.*585T>G	ENSP00000494085.1:n.*585T>G
ENST00000644810.1:c.853T>G	ENSP00000495895.1:p.Phe285Val
ENST00000644831.1:n.1308T>G
ENST00000644933.1:c.403T>G	ENSP00000496133.1:p.Phe135Val
ENST00000645285.1:c.214T>G	ENSP00000495058.1:p.Phe72Val
ENST00000645331.1:n.1895T>G
ENST00000645620.1:c.403T>G	ENSP00000493657.1:p.Phe135Val
ENST00000646691.1:n.465T>G
ENST00000646777.1:n.1465T>G
ENST00000647016.1:n.1612T>G
ENST00000647152.1:c.403T>G	ENSP00000495893.1:p.Phe135Val
ENST00000647209.1:c.*1001T>G	ENSP00000495558.1:n.*1001T>G
ENST00000647346.1:n.2152T>G
ENST00000299427.10:c.1132T>G	ENSP00000299427.6:p.Phe378Val
ENST00000524924.1:n.87T>G
ENST00000533371.5:c.403T>G	ENSP00000437066.1:p.Phe135Val
ENST00000611494.4:c.1132T>G	ENSP00000484546.1:p.Phe378Val
NM_000391.3:c.1132T>G	NP_000382.3:p.Phe378Val
NM_000391.4:c.1132T>G MANE Select	NP_000382.3:p.Phe378Val