Canonical Allele Identifier: CA379473038

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1744826
• ClinVar RCV Id: RCV002335562
• MyVariant Identifiers: chr11:g.6636749A>C (hg19) ; chr11:g.6615518A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615518A>C , CM000673.2:g.6615518A>C	GRCh38
NC_000011.9:g.6636749A>C , CM000673.1:g.6636749A>C	GRCh37
NC_000011.8:g.6593325A>C	NCBI36
NG_008653.1:g.8944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1076T>G	ENSP00000507321.1:p.Phe359Cys
ENST00000299427.12:c.1190T>G MANE Select	ENSP00000299427.6:p.Phe397Cys
ENST00000436873.7:c.427T>G
ENST00000524924.2:n.310T>G
ENST00000533371.6:c.461T>G	ENSP00000437066.1:p.Phe154Cys
ENST00000642892.1:c.461T>G	ENSP00000494165.1:p.Phe154Cys
ENST00000643342.1:c.263T>G
ENST00000643439.1:c.*930T>G	ENSP00000495849.1:n.*930T>G
ENST00000643479.1:n.1376T>G
ENST00000643516.1:c.699T>G
ENST00000644218.1:c.1001T>G	ENSP00000493574.1:p.Phe334Cys
ENST00000644683.1:c.*643T>G	ENSP00000494085.1:n.*643T>G
ENST00000644810.1:c.911T>G	ENSP00000495895.1:p.Phe304Cys
ENST00000644831.1:n.1366T>G
ENST00000644933.1:c.*56T>G	ENSP00000496133.1:n.*56T>G
ENST00000645285.1:c.*56T>G	ENSP00000495058.1:n.*56T>G
ENST00000645331.1:n.2395T>G
ENST00000645620.1:c.461T>G	ENSP00000493657.1:p.Phe154Cys
ENST00000646691.1:n.965T>G
ENST00000646777.1:n.1523T>G
ENST00000647016.1:n.1670T>G
ENST00000647152.1:c.461T>G	ENSP00000495893.1:p.Phe154Cys
ENST00000647209.1:c.*1059T>G	ENSP00000495558.1:n.*1059T>G
ENST00000647346.1:n.2210T>G
ENST00000299427.10:c.1190T>G	ENSP00000299427.6:p.Phe397Cys
ENST00000524924.1:n.145T>G
ENST00000532191.1:n.243T>G
ENST00000533371.5:c.461T>G	ENSP00000437066.1:p.Phe154Cys
ENST00000611494.4:c.1190T>G	ENSP00000484546.1:p.Phe397Cys
NM_000391.3:c.1190T>G	NP_000382.3:p.Phe397Cys
NM_000391.4:c.1190T>G MANE Select	NP_000382.3:p.Phe397Cys