Canonical Allele Identifier: CA1950237236

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616731C= , CM000673.2:g.6616731C=	GRCh38
NC_000011.9:g.6637962C= , CM000673.1:g.6637962C=	GRCh37
NC_000011.8:g.6594538C=	NCBI36
NG_008653.1:g.7731G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.702G=	ENSP00000507321.1:p.Glu234=
ENST00000299427.12:c.816G= MANE Select	ENSP00000299427.6:p.Glu272=
ENST00000436873.7:c.312+570G=
ENST00000524788.2:n.1975G=
ENST00000524903.2:n.2091G=
ENST00000528807.2:n.472G=
ENST00000530040.2:n.480-228G=
ENST00000533371.6:c.87G=	ENSP00000437066.1:p.Glu29=
ENST00000642892.1:c.87G=	ENSP00000494165.1:p.Glu29=
ENST00000643439.1:c.*556G=	ENSP00000495849.1:n.*556G=
ENST00000643479.1:n.845G=
ENST00000643516.1:c.396-228G=
ENST00000644151.1:n.2255G=
ENST00000644218.1:c.816G=	ENSP00000493574.1:p.Glu272=
ENST00000644683.1:c.*269G=	ENSP00000494085.1:n.*269G=
ENST00000644810.1:c.537G=	ENSP00000495895.1:p.Glu179=
ENST00000644831.1:n.992G=
ENST00000644933.1:c.87G=	ENSP00000496133.1:p.Glu29=
ENST00000645020.1:n.2106G=
ENST00000645285.1:c.87G=	ENSP00000495058.1:p.Glu29=
ENST00000645331.1:n.1182G=
ENST00000645620.1:c.87G=	ENSP00000493657.1:p.Glu29=
ENST00000646777.1:n.992G=
ENST00000647016.1:n.1296G=
ENST00000647152.1:c.87G=	ENSP00000495893.1:p.Glu29=
ENST00000647209.1:c.*685G=	ENSP00000495558.1:n.*685G=
ENST00000647346.1:n.1836G=
ENST00000299427.10:c.816G=	ENSP00000299427.6:p.Glu272=
ENST00000436873.6:c.451-228G=	ENSP00000398136.2:n.451-228G=
ENST00000524788.1:n.516G=
ENST00000528807.1:n.366G=
ENST00000533371.5:c.87G=	ENSP00000437066.1:p.Glu29=
ENST00000611494.4:c.816G=	ENSP00000484546.1:p.Glu272=
NM_000391.3:c.816G=	NP_000382.3:p.Glu272=
NM_000391.4:c.816G= MANE Select	NP_000382.3:p.Glu272=