Canonical Allele Identifier: CA1950234774

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615551G= , CM000673.2:g.6615551G=	GRCh38
NC_000011.9:g.6636782G= , CM000673.1:g.6636782G=	GRCh37
NC_000011.8:g.6593358G=	NCBI36
NG_008653.1:g.8911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1043C=	ENSP00000507321.1:p.Thr348=
ENST00000299427.12:c.1157C= MANE Select	ENSP00000299427.6:p.Thr386=
ENST00000436873.7:c.394C=
ENST00000524924.2:n.277C=
ENST00000533371.6:c.428C=	ENSP00000437066.1:p.Thr143=
ENST00000642892.1:c.428C=	ENSP00000494165.1:p.Thr143=
ENST00000643342.1:c.236-6C=
ENST00000643439.1:c.*897C=	ENSP00000495849.1:n.*897C=
ENST00000643479.1:n.1343C=
ENST00000643516.1:c.666C=
ENST00000644218.1:c.968C=	ENSP00000493574.1:p.Thr323=
ENST00000644683.1:c.*610C=	ENSP00000494085.1:n.*610C=
ENST00000644810.1:c.878C=	ENSP00000495895.1:p.Thr293=
ENST00000644831.1:n.1333C=
ENST00000644933.1:c.*23C=	ENSP00000496133.1:n.*23C=
ENST00000645285.1:c.*23C=	ENSP00000495058.1:n.*23C=
ENST00000645331.1:n.2362C=
ENST00000645620.1:c.428C=	ENSP00000493657.1:p.Thr143=
ENST00000646691.1:n.932C=
ENST00000646777.1:n.1490C=
ENST00000647016.1:n.1637C=
ENST00000647152.1:c.428C=	ENSP00000495893.1:p.Thr143=
ENST00000647209.1:c.*1026C=	ENSP00000495558.1:n.*1026C=
ENST00000647346.1:n.2177C=
ENST00000299427.10:c.1157C=	ENSP00000299427.6:p.Thr386=
ENST00000524924.1:n.112C=
ENST00000532191.1:n.210C=
ENST00000533371.5:c.428C=	ENSP00000437066.1:p.Thr143=
ENST00000611494.4:c.1157C=	ENSP00000484546.1:p.Thr386=
NM_000391.3:c.1157C=	NP_000382.3:p.Thr386=
NM_000391.4:c.1157C= MANE Select	NP_000382.3:p.Thr386=