Canonical Allele Identifier: CA1950235573

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616025G= , CM000673.2:g.6616025G=	GRCh38
NC_000011.9:g.6637256G= , CM000673.1:g.6637256G=	GRCh37
NC_000011.8:g.6593832G=	NCBI36
NG_008653.1:g.8437C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1011C=	ENSP00000507321.1:p.Arg337=
ENST00000299427.12:c.1125C= MANE Select	ENSP00000299427.6:p.Arg375=
ENST00000436873.7:c.362C=
ENST00000524924.2:n.245C=
ENST00000533371.6:c.396C=	ENSP00000437066.1:p.Arg132=
ENST00000642892.1:c.396C=	ENSP00000494165.1:p.Arg132=
ENST00000643342.1:c.215C=
ENST00000643439.1:c.*865C=	ENSP00000495849.1:n.*865C=
ENST00000643479.1:n.1311C=
ENST00000643516.1:c.634C=
ENST00000644218.1:c.936C=	ENSP00000493574.1:p.Arg312=
ENST00000644683.1:c.*578C=	ENSP00000494085.1:n.*578C=
ENST00000644810.1:c.846C=	ENSP00000495895.1:p.Arg282=
ENST00000644831.1:n.1301C=
ENST00000644933.1:c.396C=	ENSP00000496133.1:p.Arg132=
ENST00000645285.1:c.207C=	ENSP00000495058.1:p.Arg69=
ENST00000645331.1:n.1888C=
ENST00000645620.1:c.396C=	ENSP00000493657.1:p.Arg132=
ENST00000646691.1:n.458C=
ENST00000646777.1:n.1458C=
ENST00000647016.1:n.1605C=
ENST00000647152.1:c.396C=	ENSP00000495893.1:p.Arg132=
ENST00000647209.1:c.*994C=	ENSP00000495558.1:n.*994C=
ENST00000647346.1:n.2145C=
ENST00000299427.10:c.1125C=	ENSP00000299427.6:p.Arg375=
ENST00000524924.1:n.80C=
ENST00000533371.5:c.396C=	ENSP00000437066.1:p.Arg132=
ENST00000611494.4:c.1125C=	ENSP00000484546.1:p.Arg375=
NM_000391.3:c.1125C=	NP_000382.3:p.Arg375=
NM_000391.4:c.1125C= MANE Select	NP_000382.3:p.Arg375=