Canonical Allele Identifier: CA1950215301

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617696A= , CM000673.2:g.6617696A=	GRCh38
NC_000011.9:g.6638927A= , CM000673.1:g.6638927A=	GRCh37
NC_000011.8:g.6595503A=	NCBI36
NG_008653.1:g.6766T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.196T=	ENSP00000507321.1:p.Leu66=
ENST00000299427.12:c.310T= MANE Select	ENSP00000299427.6:p.Leu104=
ENST00000428886.7:n.398T=
ENST00000436873.7:c.114T=
ENST00000524788.2:n.1322T=
ENST00000524903.2:n.1438T=
ENST00000528571.6:c.*50T=	ENSP00000434647.1:n.*50T=
ENST00000530040.2:n.339T=
ENST00000533371.6:c.-420T=	ENSP00000437066.1:n.-420T=
ENST00000534644.6:n.311T=
ENST00000642892.1:c.-367T=	ENSP00000494165.1:n.-367T=
ENST00000643439.1:c.*50T=	ENSP00000495849.1:n.*50T=
ENST00000643479.1:n.339T=
ENST00000643516.1:c.197T=
ENST00000644151.1:n.1602T=
ENST00000644218.1:c.310T=	ENSP00000493574.1:p.Leu104=
ENST00000644683.1:c.310T=	ENSP00000494085.1:p.Leu104=
ENST00000644810.1:c.230-543T=	ENSP00000495895.1:n.230-543T=
ENST00000644831.1:n.339T=
ENST00000644933.1:c.-420T=	ENSP00000496133.1:n.-420T=
ENST00000645020.1:n.1338T=
ENST00000645285.1:c.-420T=	ENSP00000495058.1:n.-420T=
ENST00000645331.1:n.332T=
ENST00000645620.1:c.-362T=	ENSP00000493657.1:n.-362T=
ENST00000646777.1:n.339T=
ENST00000647016.1:n.643T=
ENST00000647152.1:c.-420T=	ENSP00000495893.1:n.-420T=
ENST00000647209.1:c.*179T=	ENSP00000495558.1:n.*179T=
ENST00000647346.1:n.1330T=
ENST00000299427.10:c.310T=	ENSP00000299427.6:p.Leu104=
ENST00000428886.6:n.332T=
ENST00000436873.6:c.310T=	ENSP00000398136.2:p.Leu104=
ENST00000528571.5:c.*50T=	ENSP00000434647.1:n.*50T=
ENST00000530040.1:n.422T=
ENST00000533371.5:c.-420T=	ENSP00000437066.1:n.-420T=
ENST00000534644.5:n.295T=
ENST00000611494.4:c.310T=	ENSP00000484546.1:p.Leu104=
NM_000391.3:c.310T=	NP_000382.3:p.Leu104=
NM_000391.4:c.310T= MANE Select	NP_000382.3:p.Leu104=