Canonical Allele Identifier: CA379472009

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635817G>T (hg19) ; chr11:g.6614586G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1538C>A	ENSP00000507321.1:p.Pro513His
ENST00000299427.12:c.1652C>A MANE Select	ENSP00000299427.6:p.Pro551His
ENST00000524611.2:n.691C>A
ENST00000533371.6:c.923C>A	ENSP00000437066.1:p.Pro308His
ENST00000642892.1:c.923C>A	ENSP00000494165.1:p.Pro308His
ENST00000643342.1:c.725C>A
ENST00000643439.1:c.*1392C>A	ENSP00000495849.1:n.*1392C>A
ENST00000643479.1:n.1838C>A
ENST00000643516.1:c.1161C>A
ENST00000644218.1:c.1463C>A	ENSP00000493574.1:p.Pro488His
ENST00000644683.1:c.*1105C>A	ENSP00000494085.1:n.*1105C>A
ENST00000644810.1:c.1373C>A	ENSP00000495895.1:p.Pro458His
ENST00000644831.1:n.1828C>A
ENST00000644933.1:c.*518C>A	ENSP00000496133.1:n.*518C>A
ENST00000645285.1:c.*518C>A	ENSP00000495058.1:n.*518C>A
ENST00000645331.1:n.2857C>A
ENST00000645620.1:c.923C>A	ENSP00000493657.1:p.Pro308His
ENST00000646691.1:n.1539C>A
ENST00000646777.1:n.1985C>A
ENST00000647016.1:n.2132C>A
ENST00000647152.1:c.923C>A	ENSP00000495893.1:p.Pro308His
ENST00000647209.1:c.*1521C>A	ENSP00000495558.1:n.*1521C>A
ENST00000647346.1:n.2672C>A
ENST00000299427.10:c.1652C>A	ENSP00000299427.6:p.Pro551His
ENST00000533371.5:c.923C>A	ENSP00000437066.1:p.Pro308His
ENST00000611494.4:c.1651C>A	ENSP00000484546.1:p.Pro551Thr
NM_000391.3:c.1652C>A	NP_000382.3:p.Pro551His
NM_000391.4:c.1652C>A MANE Select	NP_000382.3:p.Pro551His