Canonical Allele Identifier: CA1950215305

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617697G= , CM000673.2:g.6617697G=	GRCh38
NC_000011.9:g.6638928G= , CM000673.1:g.6638928G=	GRCh37
NC_000011.8:g.6595504G=	NCBI36
NG_008653.1:g.6765C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.195C=	ENSP00000507321.1:p.Leu65=
ENST00000299427.12:c.309C= MANE Select	ENSP00000299427.6:p.Leu103=
ENST00000428886.7:n.397C=
ENST00000436873.7:c.113C=
ENST00000524788.2:n.1321C=
ENST00000524903.2:n.1437C=
ENST00000528571.6:c.*49C=	ENSP00000434647.1:n.*49C=
ENST00000530040.2:n.338C=
ENST00000533371.6:c.-421C=	ENSP00000437066.1:n.-421C=
ENST00000534644.6:n.310C=
ENST00000642892.1:c.-368C=	ENSP00000494165.1:n.-368C=
ENST00000643439.1:c.*49C=	ENSP00000495849.1:n.*49C=
ENST00000643479.1:n.338C=
ENST00000643516.1:c.196C=
ENST00000644151.1:n.1601C=
ENST00000644218.1:c.309C=	ENSP00000493574.1:p.Leu103=
ENST00000644683.1:c.309C=	ENSP00000494085.1:p.Leu103=
ENST00000644810.1:c.230-544C=	ENSP00000495895.1:n.230-544C=
ENST00000644831.1:n.338C=
ENST00000644933.1:c.-421C=	ENSP00000496133.1:n.-421C=
ENST00000645020.1:n.1337C=
ENST00000645285.1:c.-421C=	ENSP00000495058.1:n.-421C=
ENST00000645331.1:n.331C=
ENST00000645620.1:c.-363C=	ENSP00000493657.1:n.-363C=
ENST00000646777.1:n.338C=
ENST00000647016.1:n.642C=
ENST00000647152.1:c.-421C=	ENSP00000495893.1:n.-421C=
ENST00000647209.1:c.*178C=	ENSP00000495558.1:n.*178C=
ENST00000647346.1:n.1329C=
ENST00000299427.10:c.309C=	ENSP00000299427.6:p.Leu103=
ENST00000428886.6:n.331C=
ENST00000436873.6:c.309C=	ENSP00000398136.2:p.Leu103=
ENST00000528571.5:c.*49C=	ENSP00000434647.1:n.*49C=
ENST00000530040.1:n.421C=
ENST00000533371.5:c.-421C=	ENSP00000437066.1:n.-421C=
ENST00000534644.5:n.294C=
ENST00000611494.4:c.309C=	ENSP00000484546.1:p.Leu103=
NM_000391.3:c.309C=	NP_000382.3:p.Leu103=
NM_000391.4:c.309C= MANE Select	NP_000382.3:p.Leu103=