Canonical Allele Identifier: CA379472120

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2096176
• ClinVar RCV Id: RCV003014042
• MyVariant Identifiers: chr11:g.6635868T>C (hg19) ; chr11:g.6614637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614637T>C , CM000673.2:g.6614637T>C	GRCh38
NC_000011.9:g.6635868T>C , CM000673.1:g.6635868T>C	GRCh37
NC_000011.8:g.6592444T>C	NCBI36
NG_008653.1:g.9825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1487A>G	ENSP00000507321.1:p.Gln496Arg
ENST00000299427.12:c.1601A>G MANE Select	ENSP00000299427.6:p.Gln534Arg
ENST00000524611.2:n.640A>G
ENST00000524924.2:n.721A>G
ENST00000533371.6:c.872A>G	ENSP00000437066.1:p.Gln291Arg
ENST00000642892.1:c.872A>G	ENSP00000494165.1:p.Gln291Arg
ENST00000643342.1:c.674A>G
ENST00000643439.1:c.*1341A>G	ENSP00000495849.1:n.*1341A>G
ENST00000643479.1:n.1787A>G
ENST00000643516.1:c.1110A>G
ENST00000644218.1:c.1412A>G	ENSP00000493574.1:p.Gln471Arg
ENST00000644683.1:c.*1054A>G	ENSP00000494085.1:n.*1054A>G
ENST00000644810.1:c.1322A>G	ENSP00000495895.1:p.Gln441Arg
ENST00000644831.1:n.1777A>G
ENST00000644933.1:c.*467A>G	ENSP00000496133.1:n.*467A>G
ENST00000645285.1:c.*467A>G	ENSP00000495058.1:n.*467A>G
ENST00000645331.1:n.2806A>G
ENST00000645620.1:c.872A>G	ENSP00000493657.1:p.Gln291Arg
ENST00000646691.1:n.1488A>G
ENST00000646777.1:n.1934A>G
ENST00000647016.1:n.2081A>G
ENST00000647152.1:c.872A>G	ENSP00000495893.1:p.Gln291Arg
ENST00000647209.1:c.*1470A>G	ENSP00000495558.1:n.*1470A>G
ENST00000647346.1:n.2621A>G
ENST00000299427.10:c.1601A>G	ENSP00000299427.6:p.Gln534Arg
ENST00000533371.5:c.872A>G	ENSP00000437066.1:p.Gln291Arg
ENST00000611494.4:c.1601A>G	ENSP00000484546.1:p.Gln534Arg
NM_000391.3:c.1601A>G	NP_000382.3:p.Gln534Arg
NM_000391.4:c.1601A>G MANE Select	NP_000382.3:p.Gln534Arg