Canonical Allele Identifier: CA472771870

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636742G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615511G>A , CM000673.2:g.6615511G>A	GRCh38
NC_000011.9:g.6636742G>A , CM000673.1:g.6636742G>A	GRCh37
NC_000011.8:g.6593318G>A	NCBI36
NG_008653.1:g.8951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1083C>T	ENSP00000507321.1:p.Ile361=
ENST00000299427.12:c.1197C>T MANE Select	ENSP00000299427.6:p.Ile399=
ENST00000436873.7:c.434C>T
ENST00000524924.2:n.317C>T
ENST00000533371.6:c.468C>T	ENSP00000437066.1:p.Ile156=
ENST00000642892.1:c.468C>T	ENSP00000494165.1:p.Ile156=
ENST00000643342.1:c.270C>T
ENST00000643439.1:c.*937C>T	ENSP00000495849.1:n.*937C>T
ENST00000643479.1:n.1383C>T
ENST00000643516.1:c.706C>T
ENST00000644218.1:c.1008C>T	ENSP00000493574.1:p.Ile336=
ENST00000644683.1:c.*650C>T	ENSP00000494085.1:n.*650C>T
ENST00000644810.1:c.918C>T	ENSP00000495895.1:p.Ile306=
ENST00000644831.1:n.1373C>T
ENST00000644933.1:c.*63C>T	ENSP00000496133.1:n.*63C>T
ENST00000645285.1:c.*63C>T	ENSP00000495058.1:n.*63C>T
ENST00000645331.1:n.2402C>T
ENST00000645620.1:c.468C>T	ENSP00000493657.1:p.Ile156=
ENST00000646691.1:n.972C>T
ENST00000646777.1:n.1530C>T
ENST00000647016.1:n.1677C>T
ENST00000647152.1:c.468C>T	ENSP00000495893.1:p.Ile156=
ENST00000647209.1:c.*1066C>T	ENSP00000495558.1:n.*1066C>T
ENST00000647346.1:n.2217C>T
ENST00000299427.10:c.1197C>T	ENSP00000299427.6:p.Ile399=
ENST00000524924.1:n.152C>T
ENST00000532191.1:n.250C>T
ENST00000533371.5:c.468C>T	ENSP00000437066.1:p.Ile156=
ENST00000611494.4:c.1197C>T	ENSP00000484546.1:p.Ile399=
NM_000391.3:c.1197C>T	NP_000382.3:p.Ile399=
NM_000391.4:c.1197C>T MANE Select	NP_000382.3:p.Ile399=