Canonical Allele Identifier: CA379471963

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635800G>C (hg19) ; chr11:g.6614569G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614569G>C , CM000673.2:g.6614569G>C	GRCh38
NC_000011.9:g.6635800G>C , CM000673.1:g.6635800G>C	GRCh37
NC_000011.8:g.6592376G>C	NCBI36
NG_008653.1:g.9893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1555C>G	ENSP00000507321.1:p.Leu519Val
ENST00000299427.12:c.1669C>G MANE Select	ENSP00000299427.6:p.Leu557Val
ENST00000524611.2:n.708C>G
ENST00000533371.6:c.940C>G	ENSP00000437066.1:p.Leu314Val
ENST00000642892.1:c.940C>G	ENSP00000494165.1:p.Leu314Val
ENST00000643342.1:c.742C>G
ENST00000643439.1:c.*1409C>G	ENSP00000495849.1:n.*1409C>G
ENST00000643479.1:n.1855C>G
ENST00000643516.1:c.1178C>G
ENST00000644218.1:c.1480C>G	ENSP00000493574.1:p.Leu494Val
ENST00000644683.1:c.*1122C>G	ENSP00000494085.1:n.*1122C>G
ENST00000644810.1:c.1390C>G	ENSP00000495895.1:p.Leu464Val
ENST00000644831.1:n.1845C>G
ENST00000644933.1:c.*535C>G	ENSP00000496133.1:n.*535C>G
ENST00000645285.1:c.*535C>G	ENSP00000495058.1:n.*535C>G
ENST00000645331.1:n.2874C>G
ENST00000645620.1:c.940C>G	ENSP00000493657.1:p.Leu314Val
ENST00000646691.1:n.1556C>G
ENST00000646777.1:n.2002C>G
ENST00000647016.1:n.2149C>G
ENST00000647152.1:c.940C>G	ENSP00000495893.1:p.Leu314Val
ENST00000647209.1:c.*1538C>G	ENSP00000495558.1:n.*1538C>G
ENST00000647346.1:n.2689C>G
ENST00000299427.10:c.1669C>G	ENSP00000299427.6:p.Leu557Val
ENST00000533371.5:c.940C>G	ENSP00000437066.1:p.Leu314Val
ENST00000611494.4:c.1668C>G	ENSP00000484546.1:p.Cys556Trp
NM_000391.3:c.1669C>G	NP_000382.3:p.Leu557Val
NM_000391.4:c.1669C>G MANE Select	NP_000382.3:p.Leu557Val