Canonical Allele Identifier: CA1950234766

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615546C= , CM000673.2:g.6615546C=	GRCh38
NC_000011.9:g.6636777C= , CM000673.1:g.6636777C=	GRCh37
NC_000011.8:g.6593353C=	NCBI36
NG_008653.1:g.8916G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1048G=	ENSP00000507321.1:p.Val350=
ENST00000299427.12:c.1162G= MANE Select	ENSP00000299427.6:p.Val388=
ENST00000436873.7:c.399G=
ENST00000524924.2:n.282G=
ENST00000533371.6:c.433G=	ENSP00000437066.1:p.Val145=
ENST00000642892.1:c.433G=	ENSP00000494165.1:p.Val145=
ENST00000643342.1:c.236-1G=
ENST00000643439.1:c.*902G=	ENSP00000495849.1:n.*902G=
ENST00000643479.1:n.1348G=
ENST00000643516.1:c.671G=
ENST00000644218.1:c.973G=	ENSP00000493574.1:p.Val325=
ENST00000644683.1:c.*615G=	ENSP00000494085.1:n.*615G=
ENST00000644810.1:c.883G=	ENSP00000495895.1:p.Val295=
ENST00000644831.1:n.1338G=
ENST00000644933.1:c.*28G=	ENSP00000496133.1:n.*28G=
ENST00000645285.1:c.*28G=	ENSP00000495058.1:n.*28G=
ENST00000645331.1:n.2367G=
ENST00000645620.1:c.433G=	ENSP00000493657.1:p.Val145=
ENST00000646691.1:n.937G=
ENST00000646777.1:n.1495G=
ENST00000647016.1:n.1642G=
ENST00000647152.1:c.433G=	ENSP00000495893.1:p.Val145=
ENST00000647209.1:c.*1031G=	ENSP00000495558.1:n.*1031G=
ENST00000647346.1:n.2182G=
ENST00000299427.10:c.1162G=	ENSP00000299427.6:p.Val388=
ENST00000524924.1:n.117G=
ENST00000532191.1:n.215G=
ENST00000533371.5:c.433G=	ENSP00000437066.1:p.Val145=
ENST00000611494.4:c.1162G=	ENSP00000484546.1:p.Val388=
NM_000391.3:c.1162G=	NP_000382.3:p.Val388=
NM_000391.4:c.1162G= MANE Select	NP_000382.3:p.Val388=