Canonical Allele Identifier: CA379472008

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2129152
• ClinVar RCV Id: RCV003057935
• dbSNP Id: rs1471166450
• gnomAD v2: 11-6635817-G-C
• gnomAD v3: 11-6614586-G-C
• gnomAD v4: 11-6614586-G-C
• MyVariant Identifiers: chr11:g.6635817G>C (hg19) ; chr11:g.6614586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614586G>C , CM000673.2:g.6614586G>C	GRCh38
NC_000011.9:g.6635817G>C , CM000673.1:g.6635817G>C	GRCh37
NC_000011.8:g.6592393G>C	NCBI36
NG_008653.1:g.9876C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1538C>G	ENSP00000507321.1:p.Pro513Arg
ENST00000299427.12:c.1652C>G MANE Select	ENSP00000299427.6:p.Pro551Arg
ENST00000524611.2:n.691C>G
ENST00000533371.6:c.923C>G	ENSP00000437066.1:p.Pro308Arg
ENST00000642892.1:c.923C>G	ENSP00000494165.1:p.Pro308Arg
ENST00000643342.1:c.725C>G
ENST00000643439.1:c.*1392C>G	ENSP00000495849.1:n.*1392C>G
ENST00000643479.1:n.1838C>G
ENST00000643516.1:c.1161C>G
ENST00000644218.1:c.1463C>G	ENSP00000493574.1:p.Pro488Arg
ENST00000644683.1:c.*1105C>G	ENSP00000494085.1:n.*1105C>G
ENST00000644810.1:c.1373C>G	ENSP00000495895.1:p.Pro458Arg
ENST00000644831.1:n.1828C>G
ENST00000644933.1:c.*518C>G	ENSP00000496133.1:n.*518C>G
ENST00000645285.1:c.*518C>G	ENSP00000495058.1:n.*518C>G
ENST00000645331.1:n.2857C>G
ENST00000645620.1:c.923C>G	ENSP00000493657.1:p.Pro308Arg
ENST00000646691.1:n.1539C>G
ENST00000646777.1:n.1985C>G
ENST00000647016.1:n.2132C>G
ENST00000647152.1:c.923C>G	ENSP00000495893.1:p.Pro308Arg
ENST00000647209.1:c.*1521C>G	ENSP00000495558.1:n.*1521C>G
ENST00000647346.1:n.2672C>G
ENST00000299427.10:c.1652C>G	ENSP00000299427.6:p.Pro551Arg
ENST00000533371.5:c.923C>G	ENSP00000437066.1:p.Pro308Arg
ENST00000611494.4:c.1651C>G	ENSP00000484546.1:p.Pro551Ala
NM_000391.3:c.1652C>G	NP_000382.3:p.Pro551Arg
NM_000391.4:c.1652C>G MANE Select	NP_000382.3:p.Pro551Arg