Canonical Allele Identifier: CA5858701

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1444891
• ClinVar RCV Id: RCV001982640
• dbSNP Id: rs775276482
• ExAC: 11:6636720 T / C
• gnomAD v2: 11-6636720-T-C
• gnomAD v4: 11-6615489-T-C
• MyVariant Identifiers: chr11:g.6636720T>C (hg19) ; chr11:g.6615489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615489T>C , CM000673.2:g.6615489T>C	GRCh38
NC_000011.9:g.6636720T>C , CM000673.1:g.6636720T>C	GRCh37
NC_000011.8:g.6593296T>C	NCBI36
NG_008653.1:g.8973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1105A>G	ENSP00000507321.1:p.Ile369Val
ENST00000299427.12:c.1219A>G MANE Select	ENSP00000299427.6:p.Ile407Val
ENST00000436873.7:c.456A>G
ENST00000524924.2:n.339A>G
ENST00000533371.6:c.490A>G	ENSP00000437066.1:p.Ile164Val
ENST00000642892.1:c.490A>G	ENSP00000494165.1:p.Ile164Val
ENST00000643342.1:c.292A>G
ENST00000643439.1:c.*959A>G	ENSP00000495849.1:n.*959A>G
ENST00000643479.1:n.1405A>G
ENST00000643516.1:c.728A>G
ENST00000644218.1:c.1030A>G	ENSP00000493574.1:p.Ile344Val
ENST00000644683.1:c.*672A>G	ENSP00000494085.1:n.*672A>G
ENST00000644810.1:c.940A>G	ENSP00000495895.1:p.Ile314Val
ENST00000644831.1:n.1395A>G
ENST00000644933.1:c.*85A>G	ENSP00000496133.1:n.*85A>G
ENST00000645285.1:c.*85A>G	ENSP00000495058.1:n.*85A>G
ENST00000645331.1:n.2424A>G
ENST00000645620.1:c.490A>G	ENSP00000493657.1:p.Ile164Val
ENST00000646691.1:n.994A>G
ENST00000646777.1:n.1552A>G
ENST00000647016.1:n.1699A>G
ENST00000647152.1:c.490A>G	ENSP00000495893.1:p.Ile164Val
ENST00000647209.1:c.*1088A>G	ENSP00000495558.1:n.*1088A>G
ENST00000647346.1:n.2239A>G
ENST00000299427.10:c.1219A>G	ENSP00000299427.6:p.Ile407Val
ENST00000524924.1:n.174A>G
ENST00000532191.1:n.272A>G
ENST00000533371.5:c.490A>G	ENSP00000437066.1:p.Ile164Val
ENST00000611494.4:c.1219A>G	ENSP00000484546.1:p.Ile407Val
NM_000391.3:c.1219A>G	NP_000382.3:p.Ile407Val
NM_000391.4:c.1219A>G MANE Select	NP_000382.3:p.Ile407Val