Canonical Allele Identifier: CA379475434

Gene: TPP1

Linked Data

• ClinVar Variation Id: 457946
• ClinVar RCV Id: RCV001361944
• dbSNP Id: rs1554901957
• MyVariant Identifiers: chr11:g.6638267T>C (hg19) ; chr11:g.6617036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617036T>C , CM000673.2:g.6617036T>C	GRCh38
NC_000011.9:g.6638267T>C , CM000673.1:g.6638267T>C	GRCh37
NC_000011.8:g.6594843T>C	NCBI36
NG_008653.1:g.7426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.512A>G	ENSP00000507321.1:p.Tyr171Cys
ENST00000299427.12:c.626A>G MANE Select	ENSP00000299427.6:p.Tyr209Cys
ENST00000436873.7:c.312+265A>G
ENST00000524788.2:n.1785A>G
ENST00000524903.2:n.1901A>G
ENST00000528807.2:n.282A>G
ENST00000530040.2:n.479+323A>G
ENST00000533371.6:c.-104A>G	ENSP00000437066.1:n.-104A>G
ENST00000534644.6:n.574A>G
ENST00000642892.1:c.-104A>G	ENSP00000494165.1:n.-104A>G
ENST00000643439.1:c.*366A>G	ENSP00000495849.1:n.*366A>G
ENST00000643479.1:n.655A>G
ENST00000643516.1:c.395+265A>G
ENST00000644151.1:n.2065A>G
ENST00000644218.1:c.626A>G	ENSP00000493574.1:p.Tyr209Cys
ENST00000644683.1:c.*79A>G	ENSP00000494085.1:n.*79A>G
ENST00000644810.1:c.347A>G	ENSP00000495895.1:p.Tyr116Cys
ENST00000644831.1:n.802A>G
ENST00000644933.1:c.-104A>G	ENSP00000496133.1:n.-104A>G
ENST00000645020.1:n.1801A>G
ENST00000645285.1:c.-104A>G	ENSP00000495058.1:n.-104A>G
ENST00000645331.1:n.992A>G
ENST00000645620.1:c.-104A>G	ENSP00000493657.1:n.-104A>G
ENST00000646777.1:n.802A>G
ENST00000647016.1:n.1106A>G
ENST00000647152.1:c.-104A>G	ENSP00000495893.1:n.-104A>G
ENST00000647209.1:c.*495A>G	ENSP00000495558.1:n.*495A>G
ENST00000647346.1:n.1646A>G
ENST00000299427.10:c.626A>G	ENSP00000299427.6:p.Tyr209Cys
ENST00000428886.6:n.795A>G
ENST00000436873.6:c.450+323A>G	ENSP00000398136.2:n.450+323A>G
ENST00000524788.1:n.326A>G
ENST00000528571.5:c.*366A>G	ENSP00000434647.1:n.*366A>G
ENST00000528807.1:n.176A>G
ENST00000533371.5:c.-104A>G	ENSP00000437066.1:n.-104A>G
ENST00000534644.5:n.611A>G
ENST00000611494.4:c.626A>G	ENSP00000484546.1:p.Tyr209Cys
NM_000391.3:c.626A>G	NP_000382.3:p.Tyr209Cys
NM_000391.4:c.626A>G MANE Select	NP_000382.3:p.Tyr209Cys