Canonical Allele Identifier: CA1950232619

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614579G= , CM000673.2:g.6614579G=	GRCh38
NC_000011.9:g.6635810G= , CM000673.1:g.6635810G=	GRCh37
NC_000011.8:g.6592386G=	NCBI36
NG_008653.1:g.9883C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1545C=	ENSP00000507321.1:p.Phe515=
ENST00000299427.12:c.1659C= MANE Select	ENSP00000299427.6:p.Phe553=
ENST00000524611.2:n.698C=
ENST00000533371.6:c.930C=	ENSP00000437066.1:p.Phe310=
ENST00000642892.1:c.930C=	ENSP00000494165.1:p.Phe310=
ENST00000643342.1:c.732C=
ENST00000643439.1:c.*1399C=	ENSP00000495849.1:n.*1399C=
ENST00000643479.1:n.1845C=
ENST00000643516.1:c.1168C=
ENST00000644218.1:c.1470C=	ENSP00000493574.1:p.Phe490=
ENST00000644683.1:c.*1112C=	ENSP00000494085.1:n.*1112C=
ENST00000644810.1:c.1380C=	ENSP00000495895.1:p.Phe460=
ENST00000644831.1:n.1835C=
ENST00000644933.1:c.*525C=	ENSP00000496133.1:n.*525C=
ENST00000645285.1:c.*525C=	ENSP00000495058.1:n.*525C=
ENST00000645331.1:n.2864C=
ENST00000645620.1:c.930C=	ENSP00000493657.1:p.Phe310=
ENST00000646691.1:n.1546C=
ENST00000646777.1:n.1992C=
ENST00000647016.1:n.2139C=
ENST00000647152.1:c.930C=	ENSP00000495893.1:p.Phe310=
ENST00000647209.1:c.*1528C=	ENSP00000495558.1:n.*1528C=
ENST00000647346.1:n.2679C=
ENST00000299427.10:c.1659C=	ENSP00000299427.6:p.Phe553=
ENST00000533371.5:c.930C=	ENSP00000437066.1:p.Phe310=
ENST00000611494.4:c.1658C=	ENSP00000484546.1:p.Ser553=
NM_000391.3:c.1659C=	NP_000382.3:p.Phe553=
NM_000391.4:c.1659C= MANE Select	NP_000382.3:p.Phe553=