Canonical Allele Identifier: CA1950234598

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615472G= , CM000673.2:g.6615472G=	GRCh38
NC_000011.9:g.6636703G= , CM000673.1:g.6636703G=	GRCh37
NC_000011.8:g.6593279G=	NCBI36
NG_008653.1:g.8990C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1122C=	ENSP00000507321.1:p.Phe374=
ENST00000299427.12:c.1236C= MANE Select	ENSP00000299427.6:p.Phe412=
ENST00000436873.7:c.473C=
ENST00000524924.2:n.356C=
ENST00000533371.6:c.507C=	ENSP00000437066.1:p.Phe169=
ENST00000642892.1:c.507C=	ENSP00000494165.1:p.Phe169=
ENST00000643342.1:c.309C=
ENST00000643439.1:c.*976C=	ENSP00000495849.1:n.*976C=
ENST00000643479.1:n.1422C=
ENST00000643516.1:c.745C=
ENST00000644218.1:c.1047C=	ENSP00000493574.1:p.Phe349=
ENST00000644683.1:c.*689C=	ENSP00000494085.1:n.*689C=
ENST00000644810.1:c.957C=	ENSP00000495895.1:p.Phe319=
ENST00000644831.1:n.1412C=
ENST00000644933.1:c.*102C=	ENSP00000496133.1:n.*102C=
ENST00000645285.1:c.*102C=	ENSP00000495058.1:n.*102C=
ENST00000645331.1:n.2441C=
ENST00000645620.1:c.507C=	ENSP00000493657.1:p.Phe169=
ENST00000646691.1:n.1011C=
ENST00000646777.1:n.1569C=
ENST00000647016.1:n.1716C=
ENST00000647152.1:c.507C=	ENSP00000495893.1:p.Phe169=
ENST00000647209.1:c.*1105C=	ENSP00000495558.1:n.*1105C=
ENST00000647346.1:n.2256C=
ENST00000299427.10:c.1236C=	ENSP00000299427.6:p.Phe412=
ENST00000524611.1:n.2C=
ENST00000524924.1:n.191C=
ENST00000532191.1:n.289C=
ENST00000533371.5:c.507C=	ENSP00000437066.1:p.Phe169=
ENST00000611494.4:c.1236C=	ENSP00000484546.1:p.Phe412=
NM_000391.3:c.1236C=	NP_000382.3:p.Phe412=
NM_000391.4:c.1236C= MANE Select	NP_000382.3:p.Phe412=