Canonical Allele Identifier: CA1950234585

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615456G= , CM000673.2:g.6615456G=	GRCh38
NC_000011.9:g.6636687G= , CM000673.1:g.6636687G=	GRCh37
NC_000011.8:g.6593263G=	NCBI36
NG_008653.1:g.9006C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1138C=	ENSP00000507321.1:p.Arg380=
ENST00000299427.12:c.1252C= MANE Select	ENSP00000299427.6:p.Arg418=
ENST00000436873.7:c.489C=
ENST00000524924.2:n.372C=
ENST00000533371.6:c.523C=	ENSP00000437066.1:p.Arg175=
ENST00000642892.1:c.523C=	ENSP00000494165.1:p.Arg175=
ENST00000643342.1:c.325C=
ENST00000643439.1:c.*992C=	ENSP00000495849.1:n.*992C=
ENST00000643479.1:n.1438C=
ENST00000643516.1:c.761C=
ENST00000644218.1:c.1063C=	ENSP00000493574.1:p.Arg355=
ENST00000644683.1:c.*705C=	ENSP00000494085.1:n.*705C=
ENST00000644810.1:c.973C=	ENSP00000495895.1:p.Arg325=
ENST00000644831.1:n.1428C=
ENST00000644933.1:c.*118C=	ENSP00000496133.1:n.*118C=
ENST00000645285.1:c.*118C=	ENSP00000495058.1:n.*118C=
ENST00000645331.1:n.2457C=
ENST00000645620.1:c.523C=	ENSP00000493657.1:p.Arg175=
ENST00000646691.1:n.1027C=
ENST00000646777.1:n.1585C=
ENST00000647016.1:n.1732C=
ENST00000647152.1:c.523C=	ENSP00000495893.1:p.Arg175=
ENST00000647209.1:c.*1121C=	ENSP00000495558.1:n.*1121C=
ENST00000647346.1:n.2272C=
ENST00000299427.10:c.1252C=	ENSP00000299427.6:p.Arg418=
ENST00000524611.1:n.18C=
ENST00000524924.1:n.207C=
ENST00000532191.1:n.305C=
ENST00000533371.5:c.523C=	ENSP00000437066.1:p.Arg175=
ENST00000611494.4:c.1252C=	ENSP00000484546.1:p.Arg418=
NM_000391.3:c.1252C=	NP_000382.3:p.Arg418=
NM_000391.4:c.1252C= MANE Select	NP_000382.3:p.Arg418=