Canonical Allele Identifier: CA379474230

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1433624
• ClinVar RCV Id: RCV001946110
• dbSNP Id: rs755386210
• gnomAD v2: 11-6637629-G-C
• gnomAD v3: 11-6616398-G-C
• gnomAD v4: 11-6616398-G-C
• MyVariant Identifiers: chr11:g.6637629G>C (hg19) ; chr11:g.6616398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616398G>C , CM000673.2:g.6616398G>C	GRCh38
NC_000011.9:g.6637629G>C , CM000673.1:g.6637629G>C	GRCh37
NC_000011.8:g.6594205G>C	NCBI36
NG_008653.1:g.8064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.878C>G	ENSP00000507321.1:p.Ser293Cys
ENST00000299427.12:c.992C>G MANE Select	ENSP00000299427.6:p.Ser331Cys
ENST00000436873.7:c.313-324C>G
ENST00000533371.6:c.263C>G	ENSP00000437066.1:p.Ser88Cys
ENST00000642892.1:c.263C>G	ENSP00000494165.1:p.Ser88Cys
ENST00000643342.1:c.82C>G
ENST00000643439.1:c.*732C>G	ENSP00000495849.1:n.*732C>G
ENST00000643479.1:n.1178C>G
ENST00000643516.1:c.501C>G
ENST00000644218.1:c.886+263C>G	ENSP00000493574.1:n.886+263C>G
ENST00000644683.1:c.*445C>G	ENSP00000494085.1:n.*445C>G
ENST00000644810.1:c.713C>G	ENSP00000495895.1:p.Ser238Cys
ENST00000644831.1:n.1168C>G
ENST00000644933.1:c.263C>G	ENSP00000496133.1:p.Ser88Cys
ENST00000645285.1:c.157+263C>G	ENSP00000495058.1:n.157+263C>G
ENST00000645331.1:n.1515C>G
ENST00000645620.1:c.263C>G	ENSP00000493657.1:p.Ser88Cys
ENST00000646691.1:n.85C>G
ENST00000646777.1:n.1325C>G
ENST00000647016.1:n.1472C>G
ENST00000647152.1:c.263C>G	ENSP00000495893.1:p.Ser88Cys
ENST00000647209.1:c.*861C>G	ENSP00000495558.1:n.*861C>G
ENST00000647346.1:n.2012C>G
ENST00000299427.10:c.992C>G	ENSP00000299427.6:p.Ser331Cys
ENST00000533371.5:c.263C>G	ENSP00000437066.1:p.Ser88Cys
ENST00000611494.4:c.992C>G	ENSP00000484546.1:p.Ser331Cys
NM_000391.3:c.992C>G	NP_000382.3:p.Ser331Cys
NM_000391.4:c.992C>G MANE Select	NP_000382.3:p.Ser331Cys