Canonical Allele Identifier: CA1950234571

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615449G= , CM000673.2:g.6615449G=	GRCh38
NC_000011.9:g.6636680G= , CM000673.1:g.6636680G=	GRCh37
NC_000011.8:g.6593256G=	NCBI36
NG_008653.1:g.9013C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1145C=	ENSP00000507321.1:p.Ser382=
ENST00000299427.12:c.1259C= MANE Select	ENSP00000299427.6:p.Ser420=
ENST00000436873.7:c.496C=
ENST00000524611.2:n.7C=
ENST00000524924.2:n.379C=
ENST00000533371.6:c.530C=	ENSP00000437066.1:p.Ser177=
ENST00000642892.1:c.530C=	ENSP00000494165.1:p.Ser177=
ENST00000643342.1:c.332C=
ENST00000643439.1:c.*999C=	ENSP00000495849.1:n.*999C=
ENST00000643479.1:n.1445C=
ENST00000643516.1:c.768C=
ENST00000644218.1:c.1070C=	ENSP00000493574.1:p.Ser357=
ENST00000644683.1:c.*712C=	ENSP00000494085.1:n.*712C=
ENST00000644810.1:c.980C=	ENSP00000495895.1:p.Ser327=
ENST00000644831.1:n.1435C=
ENST00000644933.1:c.*125C=	ENSP00000496133.1:n.*125C=
ENST00000645285.1:c.*125C=	ENSP00000495058.1:n.*125C=
ENST00000645331.1:n.2464C=
ENST00000645620.1:c.530C=	ENSP00000493657.1:p.Ser177=
ENST00000646691.1:n.1034C=
ENST00000646777.1:n.1592C=
ENST00000647016.1:n.1739C=
ENST00000647152.1:c.530C=	ENSP00000495893.1:p.Ser177=
ENST00000647209.1:c.*1128C=	ENSP00000495558.1:n.*1128C=
ENST00000647346.1:n.2279C=
ENST00000299427.10:c.1259C=	ENSP00000299427.6:p.Ser420=
ENST00000524611.1:n.25C=
ENST00000524924.1:n.214C=
ENST00000532191.1:n.312C=
ENST00000533371.5:c.530C=	ENSP00000437066.1:p.Ser177=
ENST00000611494.4:c.1259C=	ENSP00000484546.1:p.Ser420=
NM_000391.3:c.1259C=	NP_000382.3:p.Ser420=
NM_000391.4:c.1259C= MANE Select	NP_000382.3:p.Ser420=