Canonical Allele Identifier: CA319202

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207588
• ClinVar RCV Id: RCV000189784 ; RCV002517902
• dbSNP Id: rs796053442
• gnomAD v4: 11-6615527-T-C
• MyVariant Identifiers: chr11:g.6636758T>C (hg19) ; chr11:g.6615527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615527T>C , CM000673.2:g.6615527T>C	GRCh38
NC_000011.9:g.6636758T>C , CM000673.1:g.6636758T>C	GRCh37
NC_000011.8:g.6593334T>C	NCBI36
NG_008653.1:g.8935A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1067A>G	ENSP00000507321.1:p.Gln356Arg
ENST00000299427.12:c.1181A>G MANE Select	ENSP00000299427.6:p.Gln394Arg
ENST00000436873.7:c.418A>G
ENST00000524924.2:n.301A>G
ENST00000533371.6:c.452A>G	ENSP00000437066.1:p.Gln151Arg
ENST00000642892.1:c.452A>G	ENSP00000494165.1:p.Gln151Arg
ENST00000643342.1:c.254A>G
ENST00000643439.1:c.*921A>G	ENSP00000495849.1:n.*921A>G
ENST00000643479.1:n.1367A>G
ENST00000643516.1:c.690A>G
ENST00000644218.1:c.992A>G	ENSP00000493574.1:p.Gln331Arg
ENST00000644683.1:c.*634A>G	ENSP00000494085.1:n.*634A>G
ENST00000644810.1:c.902A>G	ENSP00000495895.1:p.Gln301Arg
ENST00000644831.1:n.1357A>G
ENST00000644933.1:c.*47A>G	ENSP00000496133.1:n.*47A>G
ENST00000645285.1:c.*47A>G	ENSP00000495058.1:n.*47A>G
ENST00000645331.1:n.2386A>G
ENST00000645620.1:c.452A>G	ENSP00000493657.1:p.Gln151Arg
ENST00000646691.1:n.956A>G
ENST00000646777.1:n.1514A>G
ENST00000647016.1:n.1661A>G
ENST00000647152.1:c.452A>G	ENSP00000495893.1:p.Gln151Arg
ENST00000647209.1:c.*1050A>G	ENSP00000495558.1:n.*1050A>G
ENST00000647346.1:n.2201A>G
ENST00000299427.10:c.1181A>G	ENSP00000299427.6:p.Gln394Arg
ENST00000524924.1:n.136A>G
ENST00000532191.1:n.234A>G
ENST00000533371.5:c.452A>G	ENSP00000437066.1:p.Gln151Arg
ENST00000611494.4:c.1181A>G	ENSP00000484546.1:p.Gln394Arg
NM_000391.3:c.1181A>G	NP_000382.3:p.Gln394Arg
NM_000391.4:c.1181A>G MANE Select	NP_000382.3:p.Gln394Arg