Canonical Allele Identifier: CA266182

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68739
• ClinVar RCV Id: RCV000059621
• dbSNP Id: rs121908201
• MyVariant Identifiers: chr11:g.6636466G>T (hg19) ; chr11:g.6615235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615235G>T , CM000673.2:g.6615235G>T	GRCh38
NC_000011.9:g.6636466G>T , CM000673.1:g.6636466G>T	GRCh37
NC_000011.8:g.6593042G>T	NCBI36
NG_008653.1:g.9227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1247C>A	ENSP00000507321.1:p.Ala416Glu
ENST00000299427.12:c.1361C>A MANE Select	ENSP00000299427.6:p.Ala454Glu
ENST00000524611.2:n.221C>A
ENST00000524924.2:n.481C>A
ENST00000533371.6:c.632C>A	ENSP00000437066.1:p.Ala211Glu
ENST00000642892.1:c.632C>A	ENSP00000494165.1:p.Ala211Glu
ENST00000643342.1:c.434C>A
ENST00000643439.1:c.*1101C>A	ENSP00000495849.1:n.*1101C>A
ENST00000643479.1:n.1547C>A
ENST00000643516.1:c.870C>A
ENST00000644218.1:c.1172C>A	ENSP00000493574.1:p.Ala391Glu
ENST00000644683.1:c.*814C>A	ENSP00000494085.1:n.*814C>A
ENST00000644810.1:c.1082C>A	ENSP00000495895.1:p.Ala361Glu
ENST00000644831.1:n.1537C>A
ENST00000644933.1:c.*227C>A	ENSP00000496133.1:n.*227C>A
ENST00000645285.1:c.*227C>A	ENSP00000495058.1:n.*227C>A
ENST00000645331.1:n.2566C>A
ENST00000645620.1:c.632C>A	ENSP00000493657.1:p.Ala211Glu
ENST00000646691.1:n.1248C>A
ENST00000646777.1:n.1694C>A
ENST00000647016.1:n.1841C>A
ENST00000647152.1:c.632C>A	ENSP00000495893.1:p.Ala211Glu
ENST00000647209.1:c.*1230C>A	ENSP00000495558.1:n.*1230C>A
ENST00000647346.1:n.2381C>A
ENST00000299427.10:c.1361C>A	ENSP00000299427.6:p.Ala454Glu
ENST00000524611.1:n.239C>A
ENST00000532191.1:n.414C>A
ENST00000533371.5:c.632C>A	ENSP00000437066.1:p.Ala211Glu
ENST00000611494.4:c.1361C>A	ENSP00000484546.1:p.Ala454Glu
NM_000391.3:c.1361C>A	NP_000382.3:p.Ala454Glu
NM_000391.4:c.1361C>A MANE Select	NP_000382.3:p.Ala454Glu