Canonical Allele Identifier: CA1950237148

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616688T= , CM000673.2:g.6616688T=	GRCh38
NC_000011.9:g.6637919T= , CM000673.1:g.6637919T=	GRCh37
NC_000011.8:g.6594495T=	NCBI36
NG_008653.1:g.7774A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.745A=	ENSP00000507321.1:p.Ile249=
ENST00000299427.12:c.859A= MANE Select	ENSP00000299427.6:p.Ile287=
ENST00000436873.7:c.313-614A=
ENST00000524788.2:n.2018A=
ENST00000524903.2:n.2134A=
ENST00000528807.2:n.515A=
ENST00000530040.2:n.480-185A=
ENST00000533371.6:c.130A=	ENSP00000437066.1:p.Ile44=
ENST00000642892.1:c.130A=	ENSP00000494165.1:p.Ile44=
ENST00000643439.1:c.*599A=	ENSP00000495849.1:n.*599A=
ENST00000643479.1:n.888A=
ENST00000643516.1:c.396-185A=
ENST00000644151.1:n.2298A=
ENST00000644218.1:c.859A=	ENSP00000493574.1:p.Ile287=
ENST00000644683.1:c.*312A=	ENSP00000494085.1:n.*312A=
ENST00000644810.1:c.580A=	ENSP00000495895.1:p.Ile194=
ENST00000644831.1:n.1035A=
ENST00000644933.1:c.130A=	ENSP00000496133.1:p.Ile44=
ENST00000645020.1:n.2149A=
ENST00000645285.1:c.130A=	ENSP00000495058.1:p.Ile44=
ENST00000645331.1:n.1225A=
ENST00000645620.1:c.130A=	ENSP00000493657.1:p.Ile44=
ENST00000646777.1:n.1035A=
ENST00000647016.1:n.1339A=
ENST00000647152.1:c.130A=	ENSP00000495893.1:p.Ile44=
ENST00000647209.1:c.*728A=	ENSP00000495558.1:n.*728A=
ENST00000647346.1:n.1879A=
ENST00000299427.10:c.859A=	ENSP00000299427.6:p.Ile287=
ENST00000436873.6:c.451-185A=	ENSP00000398136.2:n.451-185A=
ENST00000528807.1:n.409A=
ENST00000533371.5:c.130A=	ENSP00000437066.1:p.Ile44=
ENST00000611494.4:c.859A=	ENSP00000484546.1:p.Ile287=
NM_000391.3:c.859A=	NP_000382.3:p.Ile287=
NM_000391.4:c.859A= MANE Select	NP_000382.3:p.Ile287=