Canonical Allele Identifier: CA5858793

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1429933
• ClinVar RCV Id: RCV001950210
• dbSNP Id: rs758649621
• ExAC: 11:6637614 T / C
• gnomAD v2: 11-6637614-T-C
• gnomAD v3: 11-6616383-T-C
• gnomAD v4: 11-6616383-T-C
• COSMIC: COSM6134173
• MyVariant Identifiers: chr11:g.6637614T>C (hg19) ; chr11:g.6616383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616383T>C , CM000673.2:g.6616383T>C	GRCh38
NC_000011.9:g.6637614T>C , CM000673.1:g.6637614T>C	GRCh37
NC_000011.8:g.6594190T>C	NCBI36
NG_008653.1:g.8079A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.893A>G	ENSP00000507321.1:p.Tyr298Cys
ENST00000299427.12:c.1007A>G MANE Select	ENSP00000299427.6:p.Tyr336Cys
ENST00000436873.7:c.313-309A>G
ENST00000533371.6:c.278A>G	ENSP00000437066.1:p.Tyr93Cys
ENST00000642892.1:c.278A>G	ENSP00000494165.1:p.Tyr93Cys
ENST00000643342.1:c.97A>G
ENST00000643439.1:c.*747A>G	ENSP00000495849.1:n.*747A>G
ENST00000643479.1:n.1193A>G
ENST00000643516.1:c.516A>G
ENST00000644218.1:c.886+278A>G	ENSP00000493574.1:n.886+278A>G
ENST00000644683.1:c.*460A>G	ENSP00000494085.1:n.*460A>G
ENST00000644810.1:c.728A>G	ENSP00000495895.1:p.Tyr243Cys
ENST00000644831.1:n.1183A>G
ENST00000644933.1:c.278A>G	ENSP00000496133.1:p.Tyr93Cys
ENST00000645285.1:c.157+278A>G	ENSP00000495058.1:n.157+278A>G
ENST00000645331.1:n.1530A>G
ENST00000645620.1:c.278A>G	ENSP00000493657.1:p.Tyr93Cys
ENST00000646691.1:n.100A>G
ENST00000646777.1:n.1340A>G
ENST00000647016.1:n.1487A>G
ENST00000647152.1:c.278A>G	ENSP00000495893.1:p.Tyr93Cys
ENST00000647209.1:c.*876A>G	ENSP00000495558.1:n.*876A>G
ENST00000647346.1:n.2027A>G
ENST00000299427.10:c.1007A>G	ENSP00000299427.6:p.Tyr336Cys
ENST00000533371.5:c.278A>G	ENSP00000437066.1:p.Tyr93Cys
ENST00000611494.4:c.1007A>G	ENSP00000484546.1:p.Tyr336Cys
NM_000391.3:c.1007A>G	NP_000382.3:p.Tyr336Cys
NM_000391.4:c.1007A>G MANE Select	NP_000382.3:p.Tyr336Cys