Canonical Allele Identifier: CA379472810

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636545T>C (hg19) ; chr11:g.6615314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615314T>C , CM000673.2:g.6615314T>C	GRCh38
NC_000011.9:g.6636545T>C , CM000673.1:g.6636545T>C	GRCh37
NC_000011.8:g.6593121T>C	NCBI36
NG_008653.1:g.9148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1168A>G	ENSP00000507321.1:p.Lys390Glu
ENST00000299427.12:c.1282A>G MANE Select	ENSP00000299427.6:p.Lys428Glu
ENST00000524611.2:n.142A>G
ENST00000524924.2:n.402A>G
ENST00000533371.6:c.553A>G	ENSP00000437066.1:p.Lys185Glu
ENST00000642892.1:c.553A>G	ENSP00000494165.1:p.Lys185Glu
ENST00000643342.1:c.355A>G
ENST00000643439.1:c.*1022A>G	ENSP00000495849.1:n.*1022A>G
ENST00000643479.1:n.1468A>G
ENST00000643516.1:c.791A>G
ENST00000644218.1:c.1093A>G	ENSP00000493574.1:p.Lys365Glu
ENST00000644683.1:c.*735A>G	ENSP00000494085.1:n.*735A>G
ENST00000644810.1:c.1003A>G	ENSP00000495895.1:p.Lys335Glu
ENST00000644831.1:n.1458A>G
ENST00000644933.1:c.*148A>G	ENSP00000496133.1:n.*148A>G
ENST00000645285.1:c.*148A>G	ENSP00000495058.1:n.*148A>G
ENST00000645331.1:n.2487A>G
ENST00000645620.1:c.553A>G	ENSP00000493657.1:p.Lys185Glu
ENST00000646691.1:n.1169A>G
ENST00000646777.1:n.1615A>G
ENST00000647016.1:n.1762A>G
ENST00000647152.1:c.553A>G	ENSP00000495893.1:p.Lys185Glu
ENST00000647209.1:c.*1151A>G	ENSP00000495558.1:n.*1151A>G
ENST00000647346.1:n.2302A>G
ENST00000299427.10:c.1282A>G	ENSP00000299427.6:p.Lys428Glu
ENST00000524611.1:n.160A>G
ENST00000524924.1:n.237A>G
ENST00000532191.1:n.335A>G
ENST00000533371.5:c.553A>G	ENSP00000437066.1:p.Lys185Glu
ENST00000611494.4:c.1282A>G	ENSP00000484546.1:p.Lys428Glu
NM_000391.3:c.1282A>G	NP_000382.3:p.Lys428Glu
NM_000391.4:c.1282A>G MANE Select	NP_000382.3:p.Lys428Glu