Canonical Allele Identifier: CA1950232555

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614556A= , CM000673.2:g.6614556A=	GRCh38
NC_000011.9:g.6635787A= , CM000673.1:g.6635787A=	GRCh37
NC_000011.8:g.6592363A=	NCBI36
NG_008653.1:g.9906T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1568T=	ENSP00000507321.1:p.Leu523=
ENST00000299427.12:c.1682T= MANE Select	ENSP00000299427.6:p.Leu561=
ENST00000524611.2:n.721T=
ENST00000533371.6:c.953T=	ENSP00000437066.1:p.Leu318=
ENST00000642892.1:c.953T=	ENSP00000494165.1:p.Leu318=
ENST00000643342.1:c.755T=
ENST00000643439.1:c.*1422T=	ENSP00000495849.1:n.*1422T=
ENST00000643479.1:n.1868T=
ENST00000643516.1:c.1191T=
ENST00000644218.1:c.1493T=	ENSP00000493574.1:p.Leu498=
ENST00000644683.1:c.*1135T=	ENSP00000494085.1:n.*1135T=
ENST00000644810.1:c.1403T=	ENSP00000495895.1:p.Leu468=
ENST00000644831.1:n.1858T=
ENST00000644933.1:c.*548T=	ENSP00000496133.1:n.*548T=
ENST00000645285.1:c.*548T=	ENSP00000495058.1:n.*548T=
ENST00000645331.1:n.2887T=
ENST00000645620.1:c.953T=	ENSP00000493657.1:p.Leu318=
ENST00000646691.1:n.1569T=
ENST00000646777.1:n.2015T=
ENST00000647016.1:n.2162T=
ENST00000647152.1:c.953T=	ENSP00000495893.1:p.Leu318=
ENST00000647209.1:c.*1551T=	ENSP00000495558.1:n.*1551T=
ENST00000647346.1:n.2702T=
ENST00000299427.10:c.1682T=	ENSP00000299427.6:p.Leu561=
ENST00000533371.5:c.953T=	ENSP00000437066.1:p.Leu318=
ENST00000611494.4:c.*10T=	ENSP00000484546.1:n.*10T=
NM_000391.3:c.1682T=	NP_000382.3:p.Leu561=
NM_000391.4:c.1682T= MANE Select	NP_000382.3:p.Leu561=