Canonical Allele Identifier: CA252376

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2641
• ClinVar RCV Id: RCV000002760 ; RCV001248011 ; RCV004554579 ; RCV004525840
• dbSNP Id: rs119455953
• gnomAD v2: 11-6637288-A-G
• gnomAD v3: 11-6616057-A-G
• gnomAD v4: 11-6616057-A-G
• MyVariant Identifiers: chr11:g.6637288A>G (hg19) ; chr11:g.6616057A>G (hg38)
• PubMed: PMID:9295267

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616057A>G , CM000673.2:g.6616057A>G	GRCh38
NC_000011.9:g.6637288A>G , CM000673.1:g.6637288A>G	GRCh37
NC_000011.8:g.6593864A>G	NCBI36
NG_008653.1:g.8405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.979T>C	ENSP00000507321.1:p.Cys327Arg
ENST00000299427.12:c.1093T>C MANE Select	ENSP00000299427.6:p.Cys365Arg
ENST00000436873.7:c.330T>C
ENST00000524924.2:n.213T>C
ENST00000533371.6:c.364T>C	ENSP00000437066.1:p.Cys122Arg
ENST00000642892.1:c.364T>C	ENSP00000494165.1:p.Cys122Arg
ENST00000643342.1:c.183T>C
ENST00000643439.1:c.*833T>C	ENSP00000495849.1:n.*833T>C
ENST00000643479.1:n.1279T>C
ENST00000643516.1:c.602T>C
ENST00000644218.1:c.904T>C	ENSP00000493574.1:p.Cys302Arg
ENST00000644683.1:c.*546T>C	ENSP00000494085.1:n.*546T>C
ENST00000644810.1:c.814T>C	ENSP00000495895.1:p.Cys272Arg
ENST00000644831.1:n.1269T>C
ENST00000644933.1:c.364T>C	ENSP00000496133.1:p.Cys122Arg
ENST00000645285.1:c.175T>C	ENSP00000495058.1:p.Cys59Arg
ENST00000645331.1:n.1856T>C
ENST00000645620.1:c.364T>C	ENSP00000493657.1:p.Cys122Arg
ENST00000646691.1:n.426T>C
ENST00000646777.1:n.1426T>C
ENST00000647016.1:n.1573T>C
ENST00000647152.1:c.364T>C	ENSP00000495893.1:p.Cys122Arg
ENST00000647209.1:c.*962T>C	ENSP00000495558.1:n.*962T>C
ENST00000647346.1:n.2113T>C
ENST00000299427.10:c.1093T>C	ENSP00000299427.6:p.Cys365Arg
ENST00000524924.1:n.48T>C
ENST00000533371.5:c.364T>C	ENSP00000437066.1:p.Cys122Arg
ENST00000611494.4:c.1093T>C	ENSP00000484546.1:p.Cys365Arg
NM_000391.3:c.1093T>C	NP_000382.3:p.Cys365Arg
NM_000391.4:c.1093T>C MANE Select	NP_000382.3:p.Cys365Arg