Canonical Allele Identifier: CA1950233966

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615214A= , CM000673.2:g.6615214A=	GRCh38
NC_000011.9:g.6636445A= , CM000673.1:g.6636445A=	GRCh37
NC_000011.8:g.6593021A=	NCBI36
NG_008653.1:g.9248T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1268T=	ENSP00000507321.1:p.Val423=
ENST00000299427.12:c.1382T= MANE Select	ENSP00000299427.6:p.Val461=
ENST00000524611.2:n.242T=
ENST00000524924.2:n.502T=
ENST00000533371.6:c.653T=	ENSP00000437066.1:p.Val218=
ENST00000642892.1:c.653T=	ENSP00000494165.1:p.Val218=
ENST00000643342.1:c.455T=
ENST00000643439.1:c.*1122T=	ENSP00000495849.1:n.*1122T=
ENST00000643479.1:n.1568T=
ENST00000643516.1:c.891T=
ENST00000644218.1:c.1193T=	ENSP00000493574.1:p.Val398=
ENST00000644683.1:c.*835T=	ENSP00000494085.1:n.*835T=
ENST00000644810.1:c.1103T=	ENSP00000495895.1:p.Val368=
ENST00000644831.1:n.1558T=
ENST00000644933.1:c.*248T=	ENSP00000496133.1:n.*248T=
ENST00000645285.1:c.*248T=	ENSP00000495058.1:n.*248T=
ENST00000645331.1:n.2587T=
ENST00000645620.1:c.653T=	ENSP00000493657.1:p.Val218=
ENST00000646691.1:n.1269T=
ENST00000646777.1:n.1715T=
ENST00000647016.1:n.1862T=
ENST00000647152.1:c.653T=	ENSP00000495893.1:p.Val218=
ENST00000647209.1:c.*1251T=	ENSP00000495558.1:n.*1251T=
ENST00000647346.1:n.2402T=
ENST00000299427.10:c.1382T=	ENSP00000299427.6:p.Val461=
ENST00000524611.1:n.260T=
ENST00000533371.5:c.653T=	ENSP00000437066.1:p.Val218=
ENST00000611494.4:c.1382T=	ENSP00000484546.1:p.Val461=
NM_000391.3:c.1382T=	NP_000382.3:p.Val461=
NM_000391.4:c.1382T= MANE Select	NP_000382.3:p.Val461=