Canonical Allele Identifier: CA472922429

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2006309
• ClinVar RCV Id: RCV002837690
• MyVariant Identifiers: chr11:g.6637592C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616361C>T , CM000673.2:g.6616361C>T	GRCh38
NC_000011.9:g.6637592C>T , CM000673.1:g.6637592C>T	GRCh37
NC_000011.8:g.6594168C>T	NCBI36
NG_008653.1:g.8101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.915G>A	ENSP00000507321.1:p.Glu305=
ENST00000299427.12:c.1029G>A MANE Select	ENSP00000299427.6:p.Glu343=
ENST00000436873.7:c.313-287G>A
ENST00000533371.6:c.300G>A	ENSP00000437066.1:p.Glu100=
ENST00000642892.1:c.300G>A	ENSP00000494165.1:p.Glu100=
ENST00000643342.1:c.119G>A
ENST00000643439.1:c.*769G>A	ENSP00000495849.1:n.*769G>A
ENST00000643479.1:n.1215G>A
ENST00000643516.1:c.538G>A
ENST00000644218.1:c.887-287G>A	ENSP00000493574.1:n.887-287G>A
ENST00000644683.1:c.*482G>A	ENSP00000494085.1:n.*482G>A
ENST00000644810.1:c.750G>A	ENSP00000495895.1:p.Glu250=
ENST00000644831.1:n.1205G>A
ENST00000644933.1:c.300G>A	ENSP00000496133.1:p.Glu100=
ENST00000645285.1:c.158-287G>A	ENSP00000495058.1:n.158-287G>A
ENST00000645331.1:n.1552G>A
ENST00000645620.1:c.300G>A	ENSP00000493657.1:p.Glu100=
ENST00000646691.1:n.122G>A
ENST00000646777.1:n.1362G>A
ENST00000647016.1:n.1509G>A
ENST00000647152.1:c.300G>A	ENSP00000495893.1:p.Glu100=
ENST00000647209.1:c.*898G>A	ENSP00000495558.1:n.*898G>A
ENST00000647346.1:n.2049G>A
ENST00000299427.10:c.1029G>A	ENSP00000299427.6:p.Glu343=
ENST00000533371.5:c.300G>A	ENSP00000437066.1:p.Glu100=
ENST00000611494.4:c.1029G>A	ENSP00000484546.1:p.Glu343=
NM_000391.3:c.1029G>A	NP_000382.3:p.Glu343=
NM_000391.4:c.1029G>A MANE Select	NP_000382.3:p.Glu343=