Canonical Allele Identifier: CA291360

Gene: TPP1

Linked Data

• ClinVar Variation Id: 137703
• ClinVar RCV Id: RCV000125591 ; RCV000465600 ; RCV002312569 ; RCV001108043 ; RCV002492471
• dbSNP Id: rs138744051
• ExAC: 11:6636686 C / T
• gnomAD v2: 11-6636686-C-T
• gnomAD v3: 11-6615455-C-T
• gnomAD v4: 11-6615455-C-T
• MyVariant Identifiers: chr11:g.6636686C>T (hg19) ; chr11:g.6615455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615455C>T , CM000673.2:g.6615455C>T	GRCh38
NC_000011.9:g.6636686C>T , CM000673.1:g.6636686C>T	GRCh37
NC_000011.8:g.6593262C>T	NCBI36
NG_008653.1:g.9007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1139G>A	ENSP00000507321.1:p.Arg380Gln
ENST00000299427.12:c.1253G>A MANE Select	ENSP00000299427.6:p.Arg418Gln
ENST00000436873.7:c.490G>A
ENST00000524611.2:n.1G>A
ENST00000524924.2:n.373G>A
ENST00000533371.6:c.524G>A	ENSP00000437066.1:p.Arg175Gln
ENST00000642892.1:c.524G>A	ENSP00000494165.1:p.Arg175Gln
ENST00000643342.1:c.326G>A
ENST00000643439.1:c.*993G>A	ENSP00000495849.1:n.*993G>A
ENST00000643479.1:n.1439G>A
ENST00000643516.1:c.762G>A
ENST00000644218.1:c.1064G>A	ENSP00000493574.1:p.Arg355Gln
ENST00000644683.1:c.*706G>A	ENSP00000494085.1:n.*706G>A
ENST00000644810.1:c.974G>A	ENSP00000495895.1:p.Arg325Gln
ENST00000644831.1:n.1429G>A
ENST00000644933.1:c.*119G>A	ENSP00000496133.1:n.*119G>A
ENST00000645285.1:c.*119G>A	ENSP00000495058.1:n.*119G>A
ENST00000645331.1:n.2458G>A
ENST00000645620.1:c.524G>A	ENSP00000493657.1:p.Arg175Gln
ENST00000646691.1:n.1028G>A
ENST00000646777.1:n.1586G>A
ENST00000647016.1:n.1733G>A
ENST00000647152.1:c.524G>A	ENSP00000495893.1:p.Arg175Gln
ENST00000647209.1:c.*1122G>A	ENSP00000495558.1:n.*1122G>A
ENST00000647346.1:n.2273G>A
ENST00000299427.10:c.1253G>A	ENSP00000299427.6:p.Arg418Gln
ENST00000524611.1:n.19G>A
ENST00000524924.1:n.208G>A
ENST00000532191.1:n.306G>A
ENST00000533371.5:c.524G>A	ENSP00000437066.1:p.Arg175Gln
ENST00000611494.4:c.1253G>A	ENSP00000484546.1:p.Arg418Gln
NM_000391.3:c.1253G>A	NP_000382.3:p.Arg418Gln
NM_000391.4:c.1253G>A MANE Select	NP_000382.3:p.Arg418Gln