Canonical Allele Identifier: CA379472675

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636481T>C (hg19) ; chr11:g.6615250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615250T>C , CM000673.2:g.6615250T>C	GRCh38
NC_000011.9:g.6636481T>C , CM000673.1:g.6636481T>C	GRCh37
NC_000011.8:g.6593057T>C	NCBI36
NG_008653.1:g.9212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1232A>G	ENSP00000507321.1:p.Tyr411Cys
ENST00000299427.12:c.1346A>G MANE Select	ENSP00000299427.6:p.Tyr449Cys
ENST00000524611.2:n.206A>G
ENST00000524924.2:n.466A>G
ENST00000533371.6:c.617A>G	ENSP00000437066.1:p.Tyr206Cys
ENST00000642892.1:c.617A>G	ENSP00000494165.1:p.Tyr206Cys
ENST00000643342.1:c.419A>G
ENST00000643439.1:c.*1086A>G	ENSP00000495849.1:n.*1086A>G
ENST00000643479.1:n.1532A>G
ENST00000643516.1:c.855A>G
ENST00000644218.1:c.1157A>G	ENSP00000493574.1:p.Tyr386Cys
ENST00000644683.1:c.*799A>G	ENSP00000494085.1:n.*799A>G
ENST00000644810.1:c.1067A>G	ENSP00000495895.1:p.Tyr356Cys
ENST00000644831.1:n.1522A>G
ENST00000644933.1:c.*212A>G	ENSP00000496133.1:n.*212A>G
ENST00000645285.1:c.*212A>G	ENSP00000495058.1:n.*212A>G
ENST00000645331.1:n.2551A>G
ENST00000645620.1:c.617A>G	ENSP00000493657.1:p.Tyr206Cys
ENST00000646691.1:n.1233A>G
ENST00000646777.1:n.1679A>G
ENST00000647016.1:n.1826A>G
ENST00000647152.1:c.617A>G	ENSP00000495893.1:p.Tyr206Cys
ENST00000647209.1:c.*1215A>G	ENSP00000495558.1:n.*1215A>G
ENST00000647346.1:n.2366A>G
ENST00000299427.10:c.1346A>G	ENSP00000299427.6:p.Tyr449Cys
ENST00000524611.1:n.224A>G
ENST00000532191.1:n.399A>G
ENST00000533371.5:c.617A>G	ENSP00000437066.1:p.Tyr206Cys
ENST00000611494.4:c.1346A>G	ENSP00000484546.1:p.Tyr449Cys
NM_000391.3:c.1346A>G	NP_000382.3:p.Tyr449Cys
NM_000391.4:c.1346A>G MANE Select	NP_000382.3:p.Tyr449Cys