Canonical Allele Identifier: CA1950233999

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615219G= , CM000673.2:g.6615219G=	GRCh38
NC_000011.9:g.6636450G= , CM000673.1:g.6636450G=	GRCh37
NC_000011.8:g.6593026G=	NCBI36
NG_008653.1:g.9243C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1263C=	ENSP00000507321.1:p.Tyr421=
ENST00000299427.12:c.1377C= MANE Select	ENSP00000299427.6:p.Tyr459=
ENST00000524611.2:n.237C=
ENST00000524924.2:n.497C=
ENST00000533371.6:c.648C=	ENSP00000437066.1:p.Tyr216=
ENST00000642892.1:c.648C=	ENSP00000494165.1:p.Tyr216=
ENST00000643342.1:c.450C=
ENST00000643439.1:c.*1117C=	ENSP00000495849.1:n.*1117C=
ENST00000643479.1:n.1563C=
ENST00000643516.1:c.886C=
ENST00000644218.1:c.1188C=	ENSP00000493574.1:p.Tyr396=
ENST00000644683.1:c.*830C=	ENSP00000494085.1:n.*830C=
ENST00000644810.1:c.1098C=	ENSP00000495895.1:p.Tyr366=
ENST00000644831.1:n.1553C=
ENST00000644933.1:c.*243C=	ENSP00000496133.1:n.*243C=
ENST00000645285.1:c.*243C=	ENSP00000495058.1:n.*243C=
ENST00000645331.1:n.2582C=
ENST00000645620.1:c.648C=	ENSP00000493657.1:p.Tyr216=
ENST00000646691.1:n.1264C=
ENST00000646777.1:n.1710C=
ENST00000647016.1:n.1857C=
ENST00000647152.1:c.648C=	ENSP00000495893.1:p.Tyr216=
ENST00000647209.1:c.*1246C=	ENSP00000495558.1:n.*1246C=
ENST00000647346.1:n.2397C=
ENST00000299427.10:c.1377C=	ENSP00000299427.6:p.Tyr459=
ENST00000524611.1:n.255C=
ENST00000532191.1:n.430C=
ENST00000533371.5:c.648C=	ENSP00000437066.1:p.Tyr216=
ENST00000611494.4:c.1377C=	ENSP00000484546.1:p.Tyr459=
NM_000391.3:c.1377C=	NP_000382.3:p.Tyr459=
NM_000391.4:c.1377C= MANE Select	NP_000382.3:p.Tyr459=