Canonical Allele Identifier: CA1950233968

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615215C= , CM000673.2:g.6615215C=	GRCh38
NC_000011.9:g.6636446C= , CM000673.1:g.6636446C=	GRCh37
NC_000011.8:g.6593022C=	NCBI36
NG_008653.1:g.9247G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1267G=	ENSP00000507321.1:p.Val423=
ENST00000299427.12:c.1381G= MANE Select	ENSP00000299427.6:p.Val461=
ENST00000524611.2:n.241G=
ENST00000524924.2:n.501G=
ENST00000533371.6:c.652G=	ENSP00000437066.1:p.Val218=
ENST00000642892.1:c.652G=	ENSP00000494165.1:p.Val218=
ENST00000643342.1:c.454G=
ENST00000643439.1:c.*1121G=	ENSP00000495849.1:n.*1121G=
ENST00000643479.1:n.1567G=
ENST00000643516.1:c.890G=
ENST00000644218.1:c.1192G=	ENSP00000493574.1:p.Val398=
ENST00000644683.1:c.*834G=	ENSP00000494085.1:n.*834G=
ENST00000644810.1:c.1102G=	ENSP00000495895.1:p.Val368=
ENST00000644831.1:n.1557G=
ENST00000644933.1:c.*247G=	ENSP00000496133.1:n.*247G=
ENST00000645285.1:c.*247G=	ENSP00000495058.1:n.*247G=
ENST00000645331.1:n.2586G=
ENST00000645620.1:c.652G=	ENSP00000493657.1:p.Val218=
ENST00000646691.1:n.1268G=
ENST00000646777.1:n.1714G=
ENST00000647016.1:n.1861G=
ENST00000647152.1:c.652G=	ENSP00000495893.1:p.Val218=
ENST00000647209.1:c.*1250G=	ENSP00000495558.1:n.*1250G=
ENST00000647346.1:n.2401G=
ENST00000299427.10:c.1381G=	ENSP00000299427.6:p.Val461=
ENST00000524611.1:n.259G=
ENST00000533371.5:c.652G=	ENSP00000437066.1:p.Val218=
ENST00000611494.4:c.1381G=	ENSP00000484546.1:p.Val461=
NM_000391.3:c.1381G=	NP_000382.3:p.Val461=
NM_000391.4:c.1381G= MANE Select	NP_000382.3:p.Val461=