Canonical Allele Identifier: CA1950236572

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616430C= , CM000673.2:g.6616430C=	GRCh38
NC_000011.9:g.6637661C= , CM000673.1:g.6637661C=	GRCh37
NC_000011.8:g.6594237C=	NCBI36
NG_008653.1:g.8032G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.846G=	ENSP00000507321.1:p.Val282=
ENST00000299427.12:c.960G= MANE Select	ENSP00000299427.6:p.Val320=
ENST00000436873.7:c.313-356G=
ENST00000530040.2:n.553G=
ENST00000533371.6:c.231G=	ENSP00000437066.1:p.Val77=
ENST00000642892.1:c.231G=	ENSP00000494165.1:p.Val77=
ENST00000643342.1:c.50G=
ENST00000643439.1:c.*700G=	ENSP00000495849.1:n.*700G=
ENST00000643479.1:n.1146G=
ENST00000643516.1:c.469G=
ENST00000644218.1:c.886+231G=	ENSP00000493574.1:n.886+231G=
ENST00000644683.1:c.*413G=	ENSP00000494085.1:n.*413G=
ENST00000644810.1:c.681G=	ENSP00000495895.1:p.Val227=
ENST00000644831.1:n.1136G=
ENST00000644933.1:c.231G=	ENSP00000496133.1:p.Val77=
ENST00000645285.1:c.157+231G=	ENSP00000495058.1:n.157+231G=
ENST00000645331.1:n.1483G=
ENST00000645620.1:c.231G=	ENSP00000493657.1:p.Val77=
ENST00000646691.1:n.53G=
ENST00000646777.1:n.1293G=
ENST00000647016.1:n.1440G=
ENST00000647152.1:c.231G=	ENSP00000495893.1:p.Val77=
ENST00000647209.1:c.*829G=	ENSP00000495558.1:n.*829G=
ENST00000647346.1:n.1980G=
ENST00000299427.10:c.960G=	ENSP00000299427.6:p.Val320=
ENST00000436873.6:c.524G=	ENSP00000398136.2:p.Cys175=
ENST00000533371.5:c.231G=	ENSP00000437066.1:p.Val77=
ENST00000611494.4:c.960G=	ENSP00000484546.1:p.Val320=
NM_000391.3:c.960G=	NP_000382.3:p.Val320=
NM_000391.4:c.960G= MANE Select	NP_000382.3:p.Val320=