Canonical Allele Identifier: CA1950237292

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616757G= , CM000673.2:g.6616757G=	GRCh38
NC_000011.9:g.6637988G= , CM000673.1:g.6637988G=	GRCh37
NC_000011.8:g.6594564G=	NCBI36
NG_008653.1:g.7705C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.676C=	ENSP00000507321.1:p.Gln226=
ENST00000299427.12:c.790C= MANE Select	ENSP00000299427.6:p.Gln264=
ENST00000436873.7:c.312+544C=
ENST00000524788.2:n.1949C=
ENST00000524903.2:n.2065C=
ENST00000528807.2:n.446C=
ENST00000530040.2:n.480-254C=
ENST00000533371.6:c.61C=	ENSP00000437066.1:p.Gln21=
ENST00000642892.1:c.61C=	ENSP00000494165.1:p.Gln21=
ENST00000643439.1:c.*530C=	ENSP00000495849.1:n.*530C=
ENST00000643479.1:n.819C=
ENST00000643516.1:c.396-254C=
ENST00000644151.1:n.2229C=
ENST00000644218.1:c.790C=	ENSP00000493574.1:p.Gln264=
ENST00000644683.1:c.*243C=	ENSP00000494085.1:n.*243C=
ENST00000644810.1:c.511C=	ENSP00000495895.1:p.Gln171=
ENST00000644831.1:n.966C=
ENST00000644933.1:c.61C=	ENSP00000496133.1:p.Gln21=
ENST00000645020.1:n.2080C=
ENST00000645285.1:c.61C=	ENSP00000495058.1:p.Gln21=
ENST00000645331.1:n.1156C=
ENST00000645620.1:c.61C=	ENSP00000493657.1:p.Gln21=
ENST00000646777.1:n.966C=
ENST00000647016.1:n.1270C=
ENST00000647152.1:c.61C=	ENSP00000495893.1:p.Gln21=
ENST00000647209.1:c.*659C=	ENSP00000495558.1:n.*659C=
ENST00000647346.1:n.1810C=
ENST00000299427.10:c.790C=	ENSP00000299427.6:p.Gln264=
ENST00000436873.6:c.451-254C=	ENSP00000398136.2:n.451-254C=
ENST00000524788.1:n.490C=
ENST00000528807.1:n.340C=
ENST00000533371.5:c.61C=	ENSP00000437066.1:p.Gln21=
ENST00000611494.4:c.790C=	ENSP00000484546.1:p.Gln264=
NM_000391.3:c.790C=	NP_000382.3:p.Gln264=
NM_000391.4:c.790C= MANE Select	NP_000382.3:p.Gln264=