Canonical Allele Identifier: CA1950215372

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617744G= , CM000673.2:g.6617744G=	GRCh38
NC_000011.9:g.6638975G= , CM000673.1:g.6638975G=	GRCh37
NC_000011.8:g.6595551G=	NCBI36
NG_008653.1:g.6718C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.148C=	ENSP00000507321.1:p.Leu50=
ENST00000299427.12:c.262C= MANE Select	ENSP00000299427.6:p.Leu88=
ENST00000428886.7:n.350C=
ENST00000436873.7:c.66C=
ENST00000524788.2:n.1274C=
ENST00000524903.2:n.1390C=
ENST00000528571.6:c.*2C=	ENSP00000434647.1:n.*2C=
ENST00000530040.2:n.291C=
ENST00000533371.6:c.-468C=	ENSP00000437066.1:n.-468C=
ENST00000534644.6:n.263C=
ENST00000642892.1:c.-415C=	ENSP00000494165.1:n.-415C=
ENST00000643439.1:c.*2C=	ENSP00000495849.1:n.*2C=
ENST00000643479.1:n.291C=
ENST00000643516.1:c.149C=
ENST00000644151.1:n.1554C=
ENST00000644218.1:c.262C=	ENSP00000493574.1:p.Leu88=
ENST00000644683.1:c.262C=	ENSP00000494085.1:p.Leu88=
ENST00000644810.1:c.230-591C=	ENSP00000495895.1:n.230-591C=
ENST00000644831.1:n.291C=
ENST00000644933.1:c.-468C=	ENSP00000496133.1:n.-468C=
ENST00000645020.1:n.1290C=
ENST00000645285.1:c.-468C=	ENSP00000495058.1:n.-468C=
ENST00000645331.1:n.284C=
ENST00000645620.1:c.-410C=	ENSP00000493657.1:n.-410C=
ENST00000646777.1:n.291C=
ENST00000647016.1:n.595C=
ENST00000647152.1:c.-468C=	ENSP00000495893.1:n.-468C=
ENST00000647209.1:c.*131C=	ENSP00000495558.1:n.*131C=
ENST00000647346.1:n.1282C=
ENST00000299427.10:c.262C=	ENSP00000299427.6:p.Leu88=
ENST00000428886.6:n.284C=
ENST00000436873.6:c.262C=	ENSP00000398136.2:p.Leu88=
ENST00000528571.5:c.*2C=	ENSP00000434647.1:n.*2C=
ENST00000530040.1:n.374C=
ENST00000533371.5:c.-468C=	ENSP00000437066.1:n.-468C=
ENST00000534644.5:n.247C=
ENST00000611494.4:c.262C=	ENSP00000484546.1:p.Leu88=
NM_000391.3:c.262C=	NP_000382.3:p.Leu88=
NM_000391.4:c.262C= MANE Select	NP_000382.3:p.Leu88=