Canonical Allele Identifier: CA379475000

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1176893
• ClinVar RCV Id: RCV001532628
• dbSNP Id: rs2134594286
• MyVariant Identifiers: chr11:g.6637954A>C (hg19) ; chr11:g.6616723A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616723A>C , CM000673.2:g.6616723A>C	GRCh38
NC_000011.9:g.6637954A>C , CM000673.1:g.6637954A>C	GRCh37
NC_000011.8:g.6594530A>C	NCBI36
NG_008653.1:g.7739T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.710T>G	ENSP00000507321.1:p.Leu237Arg
ENST00000299427.12:c.824T>G MANE Select	ENSP00000299427.6:p.Leu275Arg
ENST00000436873.7:c.312+578T>G
ENST00000524788.2:n.1983T>G
ENST00000524903.2:n.2099T>G
ENST00000528807.2:n.480T>G
ENST00000530040.2:n.480-220T>G
ENST00000533371.6:c.95T>G	ENSP00000437066.1:p.Leu32Arg
ENST00000642892.1:c.95T>G	ENSP00000494165.1:p.Leu32Arg
ENST00000643439.1:c.*564T>G	ENSP00000495849.1:n.*564T>G
ENST00000643479.1:n.853T>G
ENST00000643516.1:c.396-220T>G
ENST00000644151.1:n.2263T>G
ENST00000644218.1:c.824T>G	ENSP00000493574.1:p.Leu275Arg
ENST00000644683.1:c.*277T>G	ENSP00000494085.1:n.*277T>G
ENST00000644810.1:c.545T>G	ENSP00000495895.1:p.Leu182Arg
ENST00000644831.1:n.1000T>G
ENST00000644933.1:c.95T>G	ENSP00000496133.1:p.Leu32Arg
ENST00000645020.1:n.2114T>G
ENST00000645285.1:c.95T>G	ENSP00000495058.1:p.Leu32Arg
ENST00000645331.1:n.1190T>G
ENST00000645620.1:c.95T>G	ENSP00000493657.1:p.Leu32Arg
ENST00000646777.1:n.1000T>G
ENST00000647016.1:n.1304T>G
ENST00000647152.1:c.95T>G	ENSP00000495893.1:p.Leu32Arg
ENST00000647209.1:c.*693T>G	ENSP00000495558.1:n.*693T>G
ENST00000647346.1:n.1844T>G
ENST00000299427.10:c.824T>G	ENSP00000299427.6:p.Leu275Arg
ENST00000436873.6:c.451-220T>G	ENSP00000398136.2:n.451-220T>G
ENST00000524788.1:n.524T>G
ENST00000528807.1:n.374T>G
ENST00000533371.5:c.95T>G	ENSP00000437066.1:p.Leu32Arg
ENST00000611494.4:c.824T>G	ENSP00000484546.1:p.Leu275Arg
NM_000391.3:c.824T>G	NP_000382.3:p.Leu275Arg
NM_000391.4:c.824T>G MANE Select	NP_000382.3:p.Leu275Arg