Canonical Allele Identifier: CA1950232729

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614638G= , CM000673.2:g.6614638G=	GRCh38
NC_000011.9:g.6635869G= , CM000673.1:g.6635869G=	GRCh37
NC_000011.8:g.6592445G=	NCBI36
NG_008653.1:g.9824C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1486C=	ENSP00000507321.1:p.Gln496=
ENST00000299427.12:c.1600C= MANE Select	ENSP00000299427.6:p.Gln534=
ENST00000524611.2:n.639C=
ENST00000524924.2:n.720C=
ENST00000533371.6:c.871C=	ENSP00000437066.1:p.Gln291=
ENST00000642892.1:c.871C=	ENSP00000494165.1:p.Gln291=
ENST00000643342.1:c.673C=
ENST00000643439.1:c.*1340C=	ENSP00000495849.1:n.*1340C=
ENST00000643479.1:n.1786C=
ENST00000643516.1:c.1109C=
ENST00000644218.1:c.1411C=	ENSP00000493574.1:p.Gln471=
ENST00000644683.1:c.*1053C=	ENSP00000494085.1:n.*1053C=
ENST00000644810.1:c.1321C=	ENSP00000495895.1:p.Gln441=
ENST00000644831.1:n.1776C=
ENST00000644933.1:c.*466C=	ENSP00000496133.1:n.*466C=
ENST00000645285.1:c.*466C=	ENSP00000495058.1:n.*466C=
ENST00000645331.1:n.2805C=
ENST00000645620.1:c.871C=	ENSP00000493657.1:p.Gln291=
ENST00000646691.1:n.1487C=
ENST00000646777.1:n.1933C=
ENST00000647016.1:n.2080C=
ENST00000647152.1:c.871C=	ENSP00000495893.1:p.Gln291=
ENST00000647209.1:c.*1469C=	ENSP00000495558.1:n.*1469C=
ENST00000647346.1:n.2620C=
ENST00000299427.10:c.1600C=	ENSP00000299427.6:p.Gln534=
ENST00000533371.5:c.871C=	ENSP00000437066.1:p.Gln291=
ENST00000611494.4:c.1600C=	ENSP00000484546.1:p.Gln534=
NM_000391.3:c.1600C=	NP_000382.3:p.Gln534=
NM_000391.4:c.1600C= MANE Select	NP_000382.3:p.Gln534=