Canonical Allele Identifier: CA1950216074

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618809G= , CM000673.2:g.6618809G=	GRCh38
NC_000011.9:g.6640040G= , CM000673.1:g.6640040G=	GRCh37
NC_000011.8:g.6596616G=	NCBI36
NG_008653.1:g.5653C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.82C=	ENSP00000507321.1:p.Gln28=
ENST00000299427.12:c.196C= MANE Select	ENSP00000299427.6:p.Gln66=
ENST00000428886.7:n.284C=
ENST00000524788.2:n.209C=
ENST00000524903.2:n.325C=
ENST00000528571.6:c.89+387C=	ENSP00000434647.1:n.89+387C=
ENST00000528657.2:c.*383C=	ENSP00000435001.1:n.*383C=
ENST00000530040.2:n.225C=
ENST00000531754.2:c.196C=	ENSP00000493706.1:p.Gln66=
ENST00000533371.6:c.-534C=	ENSP00000437066.1:n.-534C=
ENST00000534644.6:n.197C=
ENST00000642892.1:c.-481C=	ENSP00000494165.1:n.-481C=
ENST00000643439.1:c.89+387C=	ENSP00000495849.1:n.89+387C=
ENST00000643479.1:n.225C=
ENST00000643516.1:c.83C=
ENST00000644151.1:n.489C=
ENST00000644218.1:c.196C=	ENSP00000493574.1:p.Gln66=
ENST00000644683.1:c.196C=	ENSP00000494085.1:p.Gln66=
ENST00000644810.1:c.196C=	ENSP00000495895.1:p.Gln66=
ENST00000644831.1:n.225C=
ENST00000644933.1:c.-534C=	ENSP00000496133.1:n.-534C=
ENST00000645020.1:n.225C=
ENST00000645285.1:c.-501+387C=	ENSP00000495058.1:n.-501+387C=
ENST00000645331.1:n.218C=
ENST00000645620.1:c.-476C=	ENSP00000493657.1:n.-476C=
ENST00000646777.1:n.225C=
ENST00000647152.1:c.-501+387C=	ENSP00000495893.1:n.-501+387C=
ENST00000647209.1:c.*65C=	ENSP00000495558.1:n.*65C=
ENST00000647346.1:n.217C=
ENST00000299427.10:c.196C=	ENSP00000299427.6:p.Gln66=
ENST00000428886.6:n.218C=
ENST00000436873.6:c.196C=	ENSP00000398136.2:p.Gln66=
ENST00000524903.1:n.293C=
ENST00000528571.5:c.89+387C=	ENSP00000434647.1:n.89+387C=
ENST00000528657.1:c.*383C=	ENSP00000435001.1:n.*383C=
ENST00000528917.1:n.497C=
ENST00000530040.1:n.308C=
ENST00000531754.1:n.244C=
ENST00000533371.5:c.-534C=	ENSP00000437066.1:n.-534C=
ENST00000534644.5:n.214+387C=
ENST00000611494.4:c.196C=	ENSP00000484546.1:p.Gln66=
NM_000391.3:c.196C=	NP_000382.3:p.Gln66=
NM_000391.4:c.196C= MANE Select	NP_000382.3:p.Gln66=