Canonical Allele Identifier: CA472771415

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636676G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615445G>A , CM000673.2:g.6615445G>A	GRCh38
NC_000011.9:g.6636676G>A , CM000673.1:g.6636676G>A	GRCh37
NC_000011.8:g.6593252G>A	NCBI36
NG_008653.1:g.9017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1149C>T	ENSP00000507321.1:p.Tyr383=
ENST00000299427.12:c.1263C>T MANE Select	ENSP00000299427.6:p.Tyr421=
ENST00000436873.7:c.500C>T
ENST00000524611.2:n.11C>T
ENST00000524924.2:n.383C>T
ENST00000533371.6:c.534C>T	ENSP00000437066.1:p.Tyr178=
ENST00000642892.1:c.534C>T	ENSP00000494165.1:p.Tyr178=
ENST00000643342.1:c.336C>T
ENST00000643439.1:c.*1003C>T	ENSP00000495849.1:n.*1003C>T
ENST00000643479.1:n.1449C>T
ENST00000643516.1:c.772C>T
ENST00000644218.1:c.1074C>T	ENSP00000493574.1:p.Tyr358=
ENST00000644683.1:c.*716C>T	ENSP00000494085.1:n.*716C>T
ENST00000644810.1:c.984C>T	ENSP00000495895.1:p.Tyr328=
ENST00000644831.1:n.1439C>T
ENST00000644933.1:c.*129C>T	ENSP00000496133.1:n.*129C>T
ENST00000645285.1:c.*129C>T	ENSP00000495058.1:n.*129C>T
ENST00000645331.1:n.2468C>T
ENST00000645620.1:c.534C>T	ENSP00000493657.1:p.Tyr178=
ENST00000646691.1:n.1038C>T
ENST00000646777.1:n.1596C>T
ENST00000647016.1:n.1743C>T
ENST00000647152.1:c.534C>T	ENSP00000495893.1:p.Tyr178=
ENST00000647209.1:c.*1132C>T	ENSP00000495558.1:n.*1132C>T
ENST00000647346.1:n.2283C>T
ENST00000299427.10:c.1263C>T	ENSP00000299427.6:p.Tyr421=
ENST00000524611.1:n.29C>T
ENST00000524924.1:n.218C>T
ENST00000532191.1:n.316C>T
ENST00000533371.5:c.534C>T	ENSP00000437066.1:p.Tyr178=
ENST00000611494.4:c.1263C>T	ENSP00000484546.1:p.Tyr421=
NM_000391.3:c.1263C>T	NP_000382.3:p.Tyr421=
NM_000391.4:c.1263C>T MANE Select	NP_000382.3:p.Tyr421=