Canonical Allele Identifier: CA1950233895

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615199A= , CM000673.2:g.6615199A=	GRCh38
NC_000011.9:g.6636430A= , CM000673.1:g.6636430A=	GRCh37
NC_000011.8:g.6593006A=	NCBI36
NG_008653.1:g.9263T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1283T=	ENSP00000507321.1:p.Val428=
ENST00000299427.12:c.1397T= MANE Select	ENSP00000299427.6:p.Val466=
ENST00000524611.2:n.257T=
ENST00000524924.2:n.517T=
ENST00000533371.6:c.668T=	ENSP00000437066.1:p.Val223=
ENST00000642892.1:c.668T=	ENSP00000494165.1:p.Val223=
ENST00000643342.1:c.470T=
ENST00000643439.1:c.*1137T=	ENSP00000495849.1:n.*1137T=
ENST00000643479.1:n.1583T=
ENST00000643516.1:c.906T=
ENST00000644218.1:c.1208T=	ENSP00000493574.1:p.Val403=
ENST00000644683.1:c.*850T=	ENSP00000494085.1:n.*850T=
ENST00000644810.1:c.1118T=	ENSP00000495895.1:p.Val373=
ENST00000644831.1:n.1573T=
ENST00000644933.1:c.*263T=	ENSP00000496133.1:n.*263T=
ENST00000645285.1:c.*263T=	ENSP00000495058.1:n.*263T=
ENST00000645331.1:n.2602T=
ENST00000645620.1:c.668T=	ENSP00000493657.1:p.Val223=
ENST00000646691.1:n.1284T=
ENST00000646777.1:n.1730T=
ENST00000647016.1:n.1877T=
ENST00000647152.1:c.668T=	ENSP00000495893.1:p.Val223=
ENST00000647209.1:c.*1266T=	ENSP00000495558.1:n.*1266T=
ENST00000647346.1:n.2417T=
ENST00000299427.10:c.1397T=	ENSP00000299427.6:p.Val466=
ENST00000524611.1:n.275T=
ENST00000533371.5:c.668T=	ENSP00000437066.1:p.Val223=
ENST00000611494.4:c.1397T=	ENSP00000484546.1:p.Val466=
NM_000391.3:c.1397T=	NP_000382.3:p.Val466=
NM_000391.4:c.1397T= MANE Select	NP_000382.3:p.Val466=