Canonical Allele Identifier: CA1950234703

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615518A= , CM000673.2:g.6615518A=	GRCh38
NC_000011.9:g.6636749A= , CM000673.1:g.6636749A=	GRCh37
NC_000011.8:g.6593325A=	NCBI36
NG_008653.1:g.8944T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1076T=	ENSP00000507321.1:p.Phe359=
ENST00000299427.12:c.1190T= MANE Select	ENSP00000299427.6:p.Phe397=
ENST00000436873.7:c.427T=
ENST00000524924.2:n.310T=
ENST00000533371.6:c.461T=	ENSP00000437066.1:p.Phe154=
ENST00000642892.1:c.461T=	ENSP00000494165.1:p.Phe154=
ENST00000643342.1:c.263T=
ENST00000643439.1:c.*930T=	ENSP00000495849.1:n.*930T=
ENST00000643479.1:n.1376T=
ENST00000643516.1:c.699T=
ENST00000644218.1:c.1001T=	ENSP00000493574.1:p.Phe334=
ENST00000644683.1:c.*643T=	ENSP00000494085.1:n.*643T=
ENST00000644810.1:c.911T=	ENSP00000495895.1:p.Phe304=
ENST00000644831.1:n.1366T=
ENST00000644933.1:c.*56T=	ENSP00000496133.1:n.*56T=
ENST00000645285.1:c.*56T=	ENSP00000495058.1:n.*56T=
ENST00000645331.1:n.2395T=
ENST00000645620.1:c.461T=	ENSP00000493657.1:p.Phe154=
ENST00000646691.1:n.965T=
ENST00000646777.1:n.1523T=
ENST00000647016.1:n.1670T=
ENST00000647152.1:c.461T=	ENSP00000495893.1:p.Phe154=
ENST00000647209.1:c.*1059T=	ENSP00000495558.1:n.*1059T=
ENST00000647346.1:n.2210T=
ENST00000299427.10:c.1190T=	ENSP00000299427.6:p.Phe397=
ENST00000524924.1:n.145T=
ENST00000532191.1:n.243T=
ENST00000533371.5:c.461T=	ENSP00000437066.1:p.Phe154=
ENST00000611494.4:c.1190T=	ENSP00000484546.1:p.Phe397=
NM_000391.3:c.1190T=	NP_000382.3:p.Phe397=
NM_000391.4:c.1190T= MANE Select	NP_000382.3:p.Phe397=