Canonical Allele Identifier: CA274465

Gene: TPP1

Linked Data

• ClinVar Variation Id: 189179
• ClinVar RCV Id: RCV000169608 ; RCV000189791 ; RCV002498846
• dbSNP Id: rs786204753
• MyVariant Identifiers: chr11:g.6636448C>T (hg19) ; chr11:g.6615217C>T (hg38)
• PubMed: PMID:11339651 ; PMID:12125808 ; PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615217C>T , CM000673.2:g.6615217C>T	GRCh38
NC_000011.9:g.6636448C>T , CM000673.1:g.6636448C>T	GRCh37
NC_000011.8:g.6593024C>T	NCBI36
NG_008653.1:g.9245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1265G>A	ENSP00000507321.1:p.Trp422Ter
ENST00000299427.12:c.1379G>A MANE Select	ENSP00000299427.6:p.Trp460Ter
ENST00000524611.2:n.239G>A
ENST00000524924.2:n.499G>A
ENST00000533371.6:c.650G>A	ENSP00000437066.1:p.Trp217Ter
ENST00000642892.1:c.650G>A	ENSP00000494165.1:p.Trp217Ter
ENST00000643342.1:c.452G>A
ENST00000643439.1:c.*1119G>A	ENSP00000495849.1:n.*1119G>A
ENST00000643479.1:n.1565G>A
ENST00000643516.1:c.888G>A
ENST00000644218.1:c.1190G>A	ENSP00000493574.1:p.Trp397Ter
ENST00000644683.1:c.*832G>A	ENSP00000494085.1:n.*832G>A
ENST00000644810.1:c.1100G>A	ENSP00000495895.1:p.Trp367Ter
ENST00000644831.1:n.1555G>A
ENST00000644933.1:c.*245G>A	ENSP00000496133.1:n.*245G>A
ENST00000645285.1:c.*245G>A	ENSP00000495058.1:n.*245G>A
ENST00000645331.1:n.2584G>A
ENST00000645620.1:c.650G>A	ENSP00000493657.1:p.Trp217Ter
ENST00000646691.1:n.1266G>A
ENST00000646777.1:n.1712G>A
ENST00000647016.1:n.1859G>A
ENST00000647152.1:c.650G>A	ENSP00000495893.1:p.Trp217Ter
ENST00000647209.1:c.*1248G>A	ENSP00000495558.1:n.*1248G>A
ENST00000647346.1:n.2399G>A
ENST00000299427.10:c.1379G>A	ENSP00000299427.6:p.Trp460Ter
ENST00000524611.1:n.257G>A
ENST00000532191.1:n.432G>A
ENST00000533371.5:c.650G>A	ENSP00000437066.1:p.Trp217Ter
ENST00000611494.4:c.1379G>A	ENSP00000484546.1:p.Trp460Ter
NM_000391.3:c.1379G>A	NP_000382.3:p.Trp460Ter
NM_000391.4:c.1379G>A MANE Select	NP_000382.3:p.Trp460Ter