Canonical Allele Identifier: CA1950232757

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614650C= , CM000673.2:g.6614650C=	GRCh38
NC_000011.9:g.6635881C= , CM000673.1:g.6635881C=	GRCh37
NC_000011.8:g.6592457C=	NCBI36
NG_008653.1:g.9812G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1474G=	ENSP00000507321.1:p.Glu492=
ENST00000299427.12:c.1588G= MANE Select	ENSP00000299427.6:p.Glu530=
ENST00000524611.2:n.627G=
ENST00000524924.2:n.708G=
ENST00000533371.6:c.859G=	ENSP00000437066.1:p.Glu287=
ENST00000642892.1:c.859G=	ENSP00000494165.1:p.Glu287=
ENST00000643342.1:c.661G=
ENST00000643439.1:c.*1328G=	ENSP00000495849.1:n.*1328G=
ENST00000643479.1:n.1774G=
ENST00000643516.1:c.1097G=
ENST00000644218.1:c.1399G=	ENSP00000493574.1:p.Glu467=
ENST00000644683.1:c.*1041G=	ENSP00000494085.1:n.*1041G=
ENST00000644810.1:c.1309G=	ENSP00000495895.1:p.Glu437=
ENST00000644831.1:n.1764G=
ENST00000644933.1:c.*454G=	ENSP00000496133.1:n.*454G=
ENST00000645285.1:c.*454G=	ENSP00000495058.1:n.*454G=
ENST00000645331.1:n.2793G=
ENST00000645620.1:c.859G=	ENSP00000493657.1:p.Glu287=
ENST00000646691.1:n.1475G=
ENST00000646777.1:n.1921G=
ENST00000647016.1:n.2068G=
ENST00000647152.1:c.859G=	ENSP00000495893.1:p.Glu287=
ENST00000647209.1:c.*1457G=	ENSP00000495558.1:n.*1457G=
ENST00000647346.1:n.2608G=
ENST00000299427.10:c.1588G=	ENSP00000299427.6:p.Glu530=
ENST00000524611.1:n.466G=
ENST00000533371.5:c.859G=	ENSP00000437066.1:p.Glu287=
ENST00000611494.4:c.1588G=	ENSP00000484546.1:p.Glu530=
NM_000391.3:c.1588G=	NP_000382.3:p.Glu530=
NM_000391.4:c.1588G= MANE Select	NP_000382.3:p.Glu530=