Canonical Allele Identifier: CA472771632

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636706G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615475G>A , CM000673.2:g.6615475G>A	GRCh38
NC_000011.9:g.6636706G>A , CM000673.1:g.6636706G>A	GRCh37
NC_000011.8:g.6593282G>A	NCBI36
NG_008653.1:g.8987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1119C>T	ENSP00000507321.1:p.Gly373=
ENST00000299427.12:c.1233C>T MANE Select	ENSP00000299427.6:p.Gly411=
ENST00000436873.7:c.470C>T
ENST00000524924.2:n.353C>T
ENST00000533371.6:c.504C>T	ENSP00000437066.1:p.Gly168=
ENST00000642892.1:c.504C>T	ENSP00000494165.1:p.Gly168=
ENST00000643342.1:c.306C>T
ENST00000643439.1:c.*973C>T	ENSP00000495849.1:n.*973C>T
ENST00000643479.1:n.1419C>T
ENST00000643516.1:c.742C>T
ENST00000644218.1:c.1044C>T	ENSP00000493574.1:p.Gly348=
ENST00000644683.1:c.*686C>T	ENSP00000494085.1:n.*686C>T
ENST00000644810.1:c.954C>T	ENSP00000495895.1:p.Gly318=
ENST00000644831.1:n.1409C>T
ENST00000644933.1:c.*99C>T	ENSP00000496133.1:n.*99C>T
ENST00000645285.1:c.*99C>T	ENSP00000495058.1:n.*99C>T
ENST00000645331.1:n.2438C>T
ENST00000645620.1:c.504C>T	ENSP00000493657.1:p.Gly168=
ENST00000646691.1:n.1008C>T
ENST00000646777.1:n.1566C>T
ENST00000647016.1:n.1713C>T
ENST00000647152.1:c.504C>T	ENSP00000495893.1:p.Gly168=
ENST00000647209.1:c.*1102C>T	ENSP00000495558.1:n.*1102C>T
ENST00000647346.1:n.2253C>T
ENST00000299427.10:c.1233C>T	ENSP00000299427.6:p.Gly411=
ENST00000524924.1:n.188C>T
ENST00000532191.1:n.286C>T
ENST00000533371.5:c.504C>T	ENSP00000437066.1:p.Gly168=
ENST00000611494.4:c.1233C>T	ENSP00000484546.1:p.Gly411=
NM_000391.3:c.1233C>T	NP_000382.3:p.Gly411=
NM_000391.4:c.1233C>T MANE Select	NP_000382.3:p.Gly411=