Canonical Allele Identifier: CA472772092

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2773093
• ClinVar RCV Id: RCV003577010
• MyVariant Identifiers: chr11:g.6636772T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615541T>A , CM000673.2:g.6615541T>A	GRCh38
NC_000011.9:g.6636772T>A , CM000673.1:g.6636772T>A	GRCh37
NC_000011.8:g.6593348T>A	NCBI36
NG_008653.1:g.8921A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1053A>T	ENSP00000507321.1:p.Gly351=
ENST00000299427.12:c.1167A>T MANE Select	ENSP00000299427.6:p.Gly389=
ENST00000436873.7:c.404A>T
ENST00000524924.2:n.287A>T
ENST00000533371.6:c.438A>T	ENSP00000437066.1:p.Gly146=
ENST00000642892.1:c.438A>T	ENSP00000494165.1:p.Gly146=
ENST00000643342.1:c.240A>T
ENST00000643439.1:c.*907A>T	ENSP00000495849.1:n.*907A>T
ENST00000643479.1:n.1353A>T
ENST00000643516.1:c.676A>T
ENST00000644218.1:c.978A>T	ENSP00000493574.1:p.Gly326=
ENST00000644683.1:c.*620A>T	ENSP00000494085.1:n.*620A>T
ENST00000644810.1:c.888A>T	ENSP00000495895.1:p.Gly296=
ENST00000644831.1:n.1343A>T
ENST00000644933.1:c.*33A>T	ENSP00000496133.1:n.*33A>T
ENST00000645285.1:c.*33A>T	ENSP00000495058.1:n.*33A>T
ENST00000645331.1:n.2372A>T
ENST00000645620.1:c.438A>T	ENSP00000493657.1:p.Gly146=
ENST00000646691.1:n.942A>T
ENST00000646777.1:n.1500A>T
ENST00000647016.1:n.1647A>T
ENST00000647152.1:c.438A>T	ENSP00000495893.1:p.Gly146=
ENST00000647209.1:c.*1036A>T	ENSP00000495558.1:n.*1036A>T
ENST00000647346.1:n.2187A>T
ENST00000299427.10:c.1167A>T	ENSP00000299427.6:p.Gly389=
ENST00000524924.1:n.122A>T
ENST00000532191.1:n.220A>T
ENST00000533371.5:c.438A>T	ENSP00000437066.1:p.Gly146=
ENST00000611494.4:c.1167A>T	ENSP00000484546.1:p.Gly389=
NM_000391.3:c.1167A>T	NP_000382.3:p.Gly389=
NM_000391.4:c.1167A>T MANE Select	NP_000382.3:p.Gly389=