Canonical Allele Identifier: CA2695213208

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614643dup , CM000673.2:g.6614643dup	GRCh38
NC_000011.9:g.6635874dup , CM000673.1:g.6635874dup	GRCh37
NC_000011.8:g.6592450dup	NCBI36
NG_008653.1:g.9819dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1481dup	ENSP00000507321.1:p.Gln496ProfsTer?
ENST00000299427.12:c.1595dup MANE Select	ENSP00000299427.6:p.Gln534ProfsTer?
ENST00000524611.2:n.634dup
ENST00000524924.2:n.715dup
ENST00000533371.6:c.866dup	ENSP00000437066.1:p.Gln291ProfsTer?
ENST00000642892.1:c.866dup	ENSP00000494165.1:p.Gln291ProfsTer?
ENST00000643342.1:c.668dup
ENST00000643439.1:c.*1335dup	ENSP00000495849.1:n.*1335dup
ENST00000643479.1:n.1781dup
ENST00000643516.1:c.1104dup
ENST00000644218.1:c.1406dup	ENSP00000493574.1:p.Gln471ProfsTer?
ENST00000644683.1:c.*1048dup	ENSP00000494085.1:n.*1048dup
ENST00000644810.1:c.1316dup	ENSP00000495895.1:p.Gln441ProfsTer?
ENST00000644831.1:n.1771dup
ENST00000644933.1:c.*461dup	ENSP00000496133.1:n.*461dup
ENST00000645285.1:c.*461dup	ENSP00000495058.1:n.*461dup
ENST00000645331.1:n.2800dup
ENST00000645620.1:c.866dup	ENSP00000493657.1:p.Gln291ProfsTer?
ENST00000646691.1:n.1482dup
ENST00000646777.1:n.1928dup
ENST00000647016.1:n.2075dup
ENST00000647152.1:c.866dup	ENSP00000495893.1:p.Gln291ProfsTer?
ENST00000647209.1:c.*1464dup	ENSP00000495558.1:n.*1464dup
ENST00000647346.1:n.2615dup
ENST00000299427.10:c.1595dup	ENSP00000299427.6:p.Gln534ProfsTer?
ENST00000533371.5:c.866dup	ENSP00000437066.1:p.Gln291ProfsTer?
ENST00000611494.4:c.1595dup	ENSP00000484546.1:p.Gln534ProfsTer?
NM_000391.3:c.1595dup	NP_000382.3:p.Gln534ProfsTer?
NM_000391.4:c.1595dup MANE Select	NP_000382.3:p.Gln534ProfsTer?