Canonical Allele Identifier: CA1950232583

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614569G= , CM000673.2:g.6614569G=	GRCh38
NC_000011.9:g.6635800G= , CM000673.1:g.6635800G=	GRCh37
NC_000011.8:g.6592376G=	NCBI36
NG_008653.1:g.9893C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1555C=	ENSP00000507321.1:p.Leu519=
ENST00000299427.12:c.1669C= MANE Select	ENSP00000299427.6:p.Leu557=
ENST00000524611.2:n.708C=
ENST00000533371.6:c.940C=	ENSP00000437066.1:p.Leu314=
ENST00000642892.1:c.940C=	ENSP00000494165.1:p.Leu314=
ENST00000643342.1:c.742C=
ENST00000643439.1:c.*1409C=	ENSP00000495849.1:n.*1409C=
ENST00000643479.1:n.1855C=
ENST00000643516.1:c.1178C=
ENST00000644218.1:c.1480C=	ENSP00000493574.1:p.Leu494=
ENST00000644683.1:c.*1122C=	ENSP00000494085.1:n.*1122C=
ENST00000644810.1:c.1390C=	ENSP00000495895.1:p.Leu464=
ENST00000644831.1:n.1845C=
ENST00000644933.1:c.*535C=	ENSP00000496133.1:n.*535C=
ENST00000645285.1:c.*535C=	ENSP00000495058.1:n.*535C=
ENST00000645331.1:n.2874C=
ENST00000645620.1:c.940C=	ENSP00000493657.1:p.Leu314=
ENST00000646691.1:n.1556C=
ENST00000646777.1:n.2002C=
ENST00000647016.1:n.2149C=
ENST00000647152.1:c.940C=	ENSP00000495893.1:p.Leu314=
ENST00000647209.1:c.*1538C=	ENSP00000495558.1:n.*1538C=
ENST00000647346.1:n.2689C=
ENST00000299427.10:c.1669C=	ENSP00000299427.6:p.Leu557=
ENST00000533371.5:c.940C=	ENSP00000437066.1:p.Leu314=
ENST00000611494.4:c.1668C=	ENSP00000484546.1:p.Cys556=
NM_000391.3:c.1669C=	NP_000382.3:p.Leu557=
NM_000391.4:c.1669C= MANE Select	NP_000382.3:p.Leu557=