Canonical Allele Identifier: CA472771899

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2751891
• ClinVar RCV Id: RCV003571088
• MyVariant Identifiers: chr11:g.6636745G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615514G>C , CM000673.2:g.6615514G>C	GRCh38
NC_000011.9:g.6636745G>C , CM000673.1:g.6636745G>C	GRCh37
NC_000011.8:g.6593321G>C	NCBI36
NG_008653.1:g.8948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1080C>G	ENSP00000507321.1:p.Leu360=
ENST00000299427.12:c.1194C>G MANE Select	ENSP00000299427.6:p.Leu398=
ENST00000436873.7:c.431C>G
ENST00000524924.2:n.314C>G
ENST00000533371.6:c.465C>G	ENSP00000437066.1:p.Leu155=
ENST00000642892.1:c.465C>G	ENSP00000494165.1:p.Leu155=
ENST00000643342.1:c.267C>G
ENST00000643439.1:c.*934C>G	ENSP00000495849.1:n.*934C>G
ENST00000643479.1:n.1380C>G
ENST00000643516.1:c.703C>G
ENST00000644218.1:c.1005C>G	ENSP00000493574.1:p.Leu335=
ENST00000644683.1:c.*647C>G	ENSP00000494085.1:n.*647C>G
ENST00000644810.1:c.915C>G	ENSP00000495895.1:p.Leu305=
ENST00000644831.1:n.1370C>G
ENST00000644933.1:c.*60C>G	ENSP00000496133.1:n.*60C>G
ENST00000645285.1:c.*60C>G	ENSP00000495058.1:n.*60C>G
ENST00000645331.1:n.2399C>G
ENST00000645620.1:c.465C>G	ENSP00000493657.1:p.Leu155=
ENST00000646691.1:n.969C>G
ENST00000646777.1:n.1527C>G
ENST00000647016.1:n.1674C>G
ENST00000647152.1:c.465C>G	ENSP00000495893.1:p.Leu155=
ENST00000647209.1:c.*1063C>G	ENSP00000495558.1:n.*1063C>G
ENST00000647346.1:n.2214C>G
ENST00000299427.10:c.1194C>G	ENSP00000299427.6:p.Leu398=
ENST00000524924.1:n.149C>G
ENST00000532191.1:n.247C>G
ENST00000533371.5:c.465C>G	ENSP00000437066.1:p.Leu155=
ENST00000611494.4:c.1194C>G	ENSP00000484546.1:p.Leu398=
NM_000391.3:c.1194C>G	NP_000382.3:p.Leu398=
NM_000391.4:c.1194C>G MANE Select	NP_000382.3:p.Leu398=