Canonical Allele Identifier: CA1950214968

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617413C= , CM000673.2:g.6617413C=	GRCh38
NC_000011.9:g.6638644C= , CM000673.1:g.6638644C=	GRCh37
NC_000011.8:g.6595220C=	NCBI36
NG_008653.1:g.7049G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.282G=	ENSP00000507321.1:p.Leu94=
ENST00000299427.12:c.396G= MANE Select	ENSP00000299427.6:p.Leu132=
ENST00000428886.7:n.484G=
ENST00000436873.7:c.200G=
ENST00000524788.2:n.1408G=
ENST00000524903.2:n.1524G=
ENST00000528571.6:c.*136G=	ENSP00000434647.1:n.*136G=
ENST00000528807.2:n.52G=
ENST00000530040.2:n.425G=
ENST00000533371.6:c.-334G=	ENSP00000437066.1:n.-334G=
ENST00000534644.6:n.397G=
ENST00000642892.1:c.-281G=	ENSP00000494165.1:n.-281G=
ENST00000643439.1:c.*136G=	ENSP00000495849.1:n.*136G=
ENST00000643479.1:n.425G=
ENST00000643516.1:c.283G=
ENST00000644151.1:n.1688G=
ENST00000644218.1:c.396G=	ENSP00000493574.1:p.Leu132=
ENST00000644683.1:c.396G=	ENSP00000494085.1:p.Leu132=
ENST00000644810.1:c.230-260G=	ENSP00000495895.1:n.230-260G=
ENST00000644831.1:n.425G=
ENST00000644933.1:c.-334G=	ENSP00000496133.1:n.-334G=
ENST00000645020.1:n.1424G=
ENST00000645285.1:c.-334G=	ENSP00000495058.1:n.-334G=
ENST00000645331.1:n.615G=
ENST00000645620.1:c.-276G=	ENSP00000493657.1:n.-276G=
ENST00000646777.1:n.425G=
ENST00000647016.1:n.729G=
ENST00000647152.1:c.-334G=	ENSP00000495893.1:n.-334G=
ENST00000647209.1:c.*265G=	ENSP00000495558.1:n.*265G=
ENST00000647346.1:n.1416G=
ENST00000299427.10:c.396G=	ENSP00000299427.6:p.Leu132=
ENST00000428886.6:n.418G=
ENST00000436873.6:c.396G=	ENSP00000398136.2:p.Leu132=
ENST00000528571.5:c.*136G=	ENSP00000434647.1:n.*136G=
ENST00000530040.1:n.508G=
ENST00000533371.5:c.-334G=	ENSP00000437066.1:n.-334G=
ENST00000534644.5:n.381G=
ENST00000611494.4:c.396G=	ENSP00000484546.1:p.Leu132=
NM_000391.3:c.396G=	NP_000382.3:p.Leu132=
NM_000391.4:c.396G= MANE Select	NP_000382.3:p.Leu132=