Canonical Allele Identifier: CA1950236568

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616428T= , CM000673.2:g.6616428T=	GRCh38
NC_000011.9:g.6637659T= , CM000673.1:g.6637659T=	GRCh37
NC_000011.8:g.6594235T=	NCBI36
NG_008653.1:g.8034A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.848A=	ENSP00000507321.1:p.His283=
ENST00000299427.12:c.962A= MANE Select	ENSP00000299427.6:p.His321=
ENST00000436873.7:c.313-354A=
ENST00000530040.2:n.555A=
ENST00000533371.6:c.233A=	ENSP00000437066.1:p.His78=
ENST00000642892.1:c.233A=	ENSP00000494165.1:p.His78=
ENST00000643342.1:c.52A=
ENST00000643439.1:c.*702A=	ENSP00000495849.1:n.*702A=
ENST00000643479.1:n.1148A=
ENST00000643516.1:c.471A=
ENST00000644218.1:c.886+233A=	ENSP00000493574.1:n.886+233A=
ENST00000644683.1:c.*415A=	ENSP00000494085.1:n.*415A=
ENST00000644810.1:c.683A=	ENSP00000495895.1:p.His228=
ENST00000644831.1:n.1138A=
ENST00000644933.1:c.233A=	ENSP00000496133.1:p.His78=
ENST00000645285.1:c.157+233A=	ENSP00000495058.1:n.157+233A=
ENST00000645331.1:n.1485A=
ENST00000645620.1:c.233A=	ENSP00000493657.1:p.His78=
ENST00000646691.1:n.55A=
ENST00000646777.1:n.1295A=
ENST00000647016.1:n.1442A=
ENST00000647152.1:c.233A=	ENSP00000495893.1:p.His78=
ENST00000647209.1:c.*831A=	ENSP00000495558.1:n.*831A=
ENST00000647346.1:n.1982A=
ENST00000299427.10:c.962A=	ENSP00000299427.6:p.His321=
ENST00000436873.6:c.526A=	ENSP00000398136.2:p.Ile176=
ENST00000533371.5:c.233A=	ENSP00000437066.1:p.His78=
ENST00000611494.4:c.962A=	ENSP00000484546.1:p.His321=
NM_000391.3:c.962A=	NP_000382.3:p.His321=
NM_000391.4:c.962A= MANE Select	NP_000382.3:p.His321=