Canonical Allele Identifier: CA1950236786

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616501G= , CM000673.2:g.6616501G=	GRCh38
NC_000011.9:g.6637732G= , CM000673.1:g.6637732G=	GRCh37
NC_000011.8:g.6594308G=	NCBI36
NG_008653.1:g.7961C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.775C=	ENSP00000507321.1:p.Arg259=
ENST00000299427.12:c.889C= MANE Select	ENSP00000299427.6:p.Arg297=
ENST00000436873.7:c.313-427C=
ENST00000530040.2:n.482C=
ENST00000533371.6:c.160C=	ENSP00000437066.1:p.Arg54=
ENST00000642892.1:c.160C=	ENSP00000494165.1:p.Arg54=
ENST00000643439.1:c.*629C=	ENSP00000495849.1:n.*629C=
ENST00000643479.1:n.1075C=
ENST00000643516.1:c.398C=
ENST00000644218.1:c.886+160C=	ENSP00000493574.1:n.886+160C=
ENST00000644683.1:c.*342C=	ENSP00000494085.1:n.*342C=
ENST00000644810.1:c.610C=	ENSP00000495895.1:p.Arg204=
ENST00000644831.1:n.1065C=
ENST00000644933.1:c.160C=	ENSP00000496133.1:p.Arg54=
ENST00000645285.1:c.157+160C=	ENSP00000495058.1:n.157+160C=
ENST00000645331.1:n.1412C=
ENST00000645620.1:c.160C=	ENSP00000493657.1:p.Arg54=
ENST00000646777.1:n.1222C=
ENST00000647016.1:n.1369C=
ENST00000647152.1:c.160C=	ENSP00000495893.1:p.Arg54=
ENST00000647209.1:c.*758C=	ENSP00000495558.1:n.*758C=
ENST00000647346.1:n.1909C=
ENST00000299427.10:c.889C=	ENSP00000299427.6:p.Arg297=
ENST00000436873.6:c.453C=	ENSP00000398136.2:p.Ala151=
ENST00000533371.5:c.160C=	ENSP00000437066.1:p.Arg54=
ENST00000611494.4:c.889C=	ENSP00000484546.1:p.Arg297=
NM_000391.3:c.889C=	NP_000382.3:p.Arg297=
NM_000391.4:c.889C= MANE Select	NP_000382.3:p.Arg297=