Canonical Allele Identifier: CA319204

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207589
• ClinVar RCV Id: RCV000189785 ; RCV001273173
• dbSNP Id: rs780670020
• ExAC: 11:6636722 T / C
• gnomAD v2: 11-6636722-T-C
• gnomAD v3: 11-6615491-T-C
• gnomAD v4: 11-6615491-T-C
• MyVariant Identifiers: chr11:g.6636722T>C (hg19) ; chr11:g.6615491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615491T>C , CM000673.2:g.6615491T>C	GRCh38
NC_000011.9:g.6636722T>C , CM000673.1:g.6636722T>C	GRCh37
NC_000011.8:g.6593298T>C	NCBI36
NG_008653.1:g.8971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1103A>G	ENSP00000507321.1:p.Tyr368Cys
ENST00000299427.12:c.1217A>G MANE Select	ENSP00000299427.6:p.Tyr406Cys
ENST00000436873.7:c.454A>G
ENST00000524924.2:n.337A>G
ENST00000533371.6:c.488A>G	ENSP00000437066.1:p.Tyr163Cys
ENST00000642892.1:c.488A>G	ENSP00000494165.1:p.Tyr163Cys
ENST00000643342.1:c.290A>G
ENST00000643439.1:c.*957A>G	ENSP00000495849.1:n.*957A>G
ENST00000643479.1:n.1403A>G
ENST00000643516.1:c.726A>G
ENST00000644218.1:c.1028A>G	ENSP00000493574.1:p.Tyr343Cys
ENST00000644683.1:c.*670A>G	ENSP00000494085.1:n.*670A>G
ENST00000644810.1:c.938A>G	ENSP00000495895.1:p.Tyr313Cys
ENST00000644831.1:n.1393A>G
ENST00000644933.1:c.*83A>G	ENSP00000496133.1:n.*83A>G
ENST00000645285.1:c.*83A>G	ENSP00000495058.1:n.*83A>G
ENST00000645331.1:n.2422A>G
ENST00000645620.1:c.488A>G	ENSP00000493657.1:p.Tyr163Cys
ENST00000646691.1:n.992A>G
ENST00000646777.1:n.1550A>G
ENST00000647016.1:n.1697A>G
ENST00000647152.1:c.488A>G	ENSP00000495893.1:p.Tyr163Cys
ENST00000647209.1:c.*1086A>G	ENSP00000495558.1:n.*1086A>G
ENST00000647346.1:n.2237A>G
ENST00000299427.10:c.1217A>G	ENSP00000299427.6:p.Tyr406Cys
ENST00000524924.1:n.172A>G
ENST00000532191.1:n.270A>G
ENST00000533371.5:c.488A>G	ENSP00000437066.1:p.Tyr163Cys
ENST00000611494.4:c.1217A>G	ENSP00000484546.1:p.Tyr406Cys
NM_000391.3:c.1217A>G	NP_000382.3:p.Tyr406Cys
NM_000391.4:c.1217A>G MANE Select	NP_000382.3:p.Tyr406Cys