Canonical Allele Identifier: CA379475782

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638571A>T (hg19) ; chr11:g.6617340A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617340A>T , CM000673.2:g.6617340A>T	GRCh38
NC_000011.9:g.6638571A>T , CM000673.1:g.6638571A>T	GRCh37
NC_000011.8:g.6595147A>T	NCBI36
NG_008653.1:g.7122T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.355T>A	ENSP00000507321.1:p.Tyr119Asn
ENST00000299427.12:c.469T>A MANE Select	ENSP00000299427.6:p.Tyr157Asn
ENST00000428886.7:n.557T>A
ENST00000436873.7:c.273T>A
ENST00000524788.2:n.1481T>A
ENST00000524903.2:n.1597T>A
ENST00000528571.6:c.*209T>A	ENSP00000434647.1:n.*209T>A
ENST00000528807.2:n.125T>A
ENST00000530040.2:n.479+19T>A
ENST00000533371.6:c.-261T>A	ENSP00000437066.1:n.-261T>A
ENST00000534644.6:n.456+14T>A
ENST00000642892.1:c.-222+14T>A	ENSP00000494165.1:n.-222+14T>A
ENST00000643439.1:c.*209T>A	ENSP00000495849.1:n.*209T>A
ENST00000643479.1:n.498T>A
ENST00000643516.1:c.356T>A
ENST00000644151.1:n.1761T>A
ENST00000644218.1:c.469T>A	ENSP00000493574.1:p.Tyr157Asn
ENST00000644683.1:c.450+19T>A	ENSP00000494085.1:n.450+19T>A
ENST00000644810.1:c.230-187T>A	ENSP00000495895.1:n.230-187T>A
ENST00000644831.1:n.498T>A
ENST00000644933.1:c.-261T>A	ENSP00000496133.1:n.-261T>A
ENST00000645020.1:n.1497T>A
ENST00000645285.1:c.-261T>A	ENSP00000495058.1:n.-261T>A
ENST00000645331.1:n.688T>A
ENST00000645620.1:c.-222+19T>A	ENSP00000493657.1:n.-222+19T>A
ENST00000646777.1:n.498T>A
ENST00000647016.1:n.802T>A
ENST00000647152.1:c.-261T>A	ENSP00000495893.1:n.-261T>A
ENST00000647209.1:c.*338T>A	ENSP00000495558.1:n.*338T>A
ENST00000647346.1:n.1489T>A
ENST00000299427.10:c.469T>A	ENSP00000299427.6:p.Tyr157Asn
ENST00000428886.6:n.491T>A
ENST00000436873.6:c.450+19T>A	ENSP00000398136.2:n.450+19T>A
ENST00000524788.1:n.22T>A
ENST00000528571.5:c.*209T>A	ENSP00000434647.1:n.*209T>A
ENST00000533371.5:c.-261T>A	ENSP00000437066.1:n.-261T>A
ENST00000534644.5:n.454T>A
ENST00000611494.4:c.469T>A	ENSP00000484546.1:p.Tyr157Asn
NM_000391.3:c.469T>A	NP_000382.3:p.Tyr157Asn
NM_000391.4:c.469T>A MANE Select	NP_000382.3:p.Tyr157Asn