Canonical Allele Identifier: CA1950233962

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615213C= , CM000673.2:g.6615213C=	GRCh38
NC_000011.9:g.6636444C= , CM000673.1:g.6636444C=	GRCh37
NC_000011.8:g.6593020C=	NCBI36
NG_008653.1:g.9249G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1269G=	ENSP00000507321.1:p.Val423=
ENST00000299427.12:c.1383G= MANE Select	ENSP00000299427.6:p.Val461=
ENST00000524611.2:n.243G=
ENST00000524924.2:n.503G=
ENST00000533371.6:c.654G=	ENSP00000437066.1:p.Val218=
ENST00000642892.1:c.654G=	ENSP00000494165.1:p.Val218=
ENST00000643342.1:c.456G=
ENST00000643439.1:c.*1123G=	ENSP00000495849.1:n.*1123G=
ENST00000643479.1:n.1569G=
ENST00000643516.1:c.892G=
ENST00000644218.1:c.1194G=	ENSP00000493574.1:p.Val398=
ENST00000644683.1:c.*836G=	ENSP00000494085.1:n.*836G=
ENST00000644810.1:c.1104G=	ENSP00000495895.1:p.Val368=
ENST00000644831.1:n.1559G=
ENST00000644933.1:c.*249G=	ENSP00000496133.1:n.*249G=
ENST00000645285.1:c.*249G=	ENSP00000495058.1:n.*249G=
ENST00000645331.1:n.2588G=
ENST00000645620.1:c.654G=	ENSP00000493657.1:p.Val218=
ENST00000646691.1:n.1270G=
ENST00000646777.1:n.1716G=
ENST00000647016.1:n.1863G=
ENST00000647152.1:c.654G=	ENSP00000495893.1:p.Val218=
ENST00000647209.1:c.*1252G=	ENSP00000495558.1:n.*1252G=
ENST00000647346.1:n.2403G=
ENST00000299427.10:c.1383G=	ENSP00000299427.6:p.Val461=
ENST00000524611.1:n.261G=
ENST00000533371.5:c.654G=	ENSP00000437066.1:p.Val218=
ENST00000611494.4:c.1383G=	ENSP00000484546.1:p.Val461=
NM_000391.3:c.1383G=	NP_000382.3:p.Val461=
NM_000391.4:c.1383G= MANE Select	NP_000382.3:p.Val461=