Canonical Allele Identifier: CA252378

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2645
• ClinVar RCV Id: RCV000002764 ; RCV000189790
• dbSNP Id: rs119455956
• ExAC: 11:6636487 C / T
• gnomAD v2: 11-6636487-C-T
• gnomAD v3: 11-6615256-C-T
• gnomAD v4: 11-6615256-C-T
• COSMIC: COSM1356191
• MyVariant Identifiers: chr11:g.6636487C>T (hg19) ; chr11:g.6615256C>T (hg38)
• PubMed: PMID:10330339

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615256C>T , CM000673.2:g.6615256C>T	GRCh38
NC_000011.9:g.6636487C>T , CM000673.1:g.6636487C>T	GRCh37
NC_000011.8:g.6593063C>T	NCBI36
NG_008653.1:g.9206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1226G>A	ENSP00000507321.1:p.Arg409His
ENST00000299427.12:c.1340G>A MANE Select	ENSP00000299427.6:p.Arg447His
ENST00000524611.2:n.200G>A
ENST00000524924.2:n.460G>A
ENST00000533371.6:c.611G>A	ENSP00000437066.1:p.Arg204His
ENST00000642892.1:c.611G>A	ENSP00000494165.1:p.Arg204His
ENST00000643342.1:c.413G>A
ENST00000643439.1:c.*1080G>A	ENSP00000495849.1:n.*1080G>A
ENST00000643479.1:n.1526G>A
ENST00000643516.1:c.849G>A
ENST00000644218.1:c.1151G>A	ENSP00000493574.1:p.Arg384His
ENST00000644683.1:c.*793G>A	ENSP00000494085.1:n.*793G>A
ENST00000644810.1:c.1061G>A	ENSP00000495895.1:p.Arg354His
ENST00000644831.1:n.1516G>A
ENST00000644933.1:c.*206G>A	ENSP00000496133.1:n.*206G>A
ENST00000645285.1:c.*206G>A	ENSP00000495058.1:n.*206G>A
ENST00000645331.1:n.2545G>A
ENST00000645620.1:c.611G>A	ENSP00000493657.1:p.Arg204His
ENST00000646691.1:n.1227G>A
ENST00000646777.1:n.1673G>A
ENST00000647016.1:n.1820G>A
ENST00000647152.1:c.611G>A	ENSP00000495893.1:p.Arg204His
ENST00000647209.1:c.*1209G>A	ENSP00000495558.1:n.*1209G>A
ENST00000647346.1:n.2360G>A
ENST00000299427.10:c.1340G>A	ENSP00000299427.6:p.Arg447His
ENST00000524611.1:n.218G>A
ENST00000532191.1:n.393G>A
ENST00000533371.5:c.611G>A	ENSP00000437066.1:p.Arg204His
ENST00000611494.4:c.1340G>A	ENSP00000484546.1:p.Arg447His
NM_000391.3:c.1340G>A	NP_000382.3:p.Arg447His
NM_000391.4:c.1340G>A MANE Select	NP_000382.3:p.Arg447His