Canonical Allele Identifier: CA379475016

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1351932
• ClinVar RCV Id: RCV002047218
• dbSNP Id: rs2134594292
• MyVariant Identifiers: chr11:g.6637961C>A (hg19) ; chr11:g.6616730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616730C>A , CM000673.2:g.6616730C>A	GRCh38
NC_000011.9:g.6637961C>A , CM000673.1:g.6637961C>A	GRCh37
NC_000011.8:g.6594537C>A	NCBI36
NG_008653.1:g.7732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.703G>T	ENSP00000507321.1:p.Ala235Ser
ENST00000299427.12:c.817G>T MANE Select	ENSP00000299427.6:p.Ala273Ser
ENST00000436873.7:c.312+571G>T
ENST00000524788.2:n.1976G>T
ENST00000524903.2:n.2092G>T
ENST00000528807.2:n.473G>T
ENST00000530040.2:n.480-227G>T
ENST00000533371.6:c.88G>T	ENSP00000437066.1:p.Ala30Ser
ENST00000642892.1:c.88G>T	ENSP00000494165.1:p.Ala30Ser
ENST00000643439.1:c.*557G>T	ENSP00000495849.1:n.*557G>T
ENST00000643479.1:n.846G>T
ENST00000643516.1:c.396-227G>T
ENST00000644151.1:n.2256G>T
ENST00000644218.1:c.817G>T	ENSP00000493574.1:p.Ala273Ser
ENST00000644683.1:c.*270G>T	ENSP00000494085.1:n.*270G>T
ENST00000644810.1:c.538G>T	ENSP00000495895.1:p.Ala180Ser
ENST00000644831.1:n.993G>T
ENST00000644933.1:c.88G>T	ENSP00000496133.1:p.Ala30Ser
ENST00000645020.1:n.2107G>T
ENST00000645285.1:c.88G>T	ENSP00000495058.1:p.Ala30Ser
ENST00000645331.1:n.1183G>T
ENST00000645620.1:c.88G>T	ENSP00000493657.1:p.Ala30Ser
ENST00000646777.1:n.993G>T
ENST00000647016.1:n.1297G>T
ENST00000647152.1:c.88G>T	ENSP00000495893.1:p.Ala30Ser
ENST00000647209.1:c.*686G>T	ENSP00000495558.1:n.*686G>T
ENST00000647346.1:n.1837G>T
ENST00000299427.10:c.817G>T	ENSP00000299427.6:p.Ala273Ser
ENST00000436873.6:c.451-227G>T	ENSP00000398136.2:n.451-227G>T
ENST00000524788.1:n.517G>T
ENST00000528807.1:n.367G>T
ENST00000533371.5:c.88G>T	ENSP00000437066.1:p.Ala30Ser
ENST00000611494.4:c.817G>T	ENSP00000484546.1:p.Ala273Ser
NM_000391.3:c.817G>T	NP_000382.3:p.Ala273Ser
NM_000391.4:c.817G>T MANE Select	NP_000382.3:p.Ala273Ser