Canonical Allele Identifier: CA379473151

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1014918
• ClinVar RCV Id: RCV001313720
• dbSNP Id: rs1855567562
• gnomAD v3: 11-6615546-C-T
• gnomAD v4: 11-6615546-C-T
• MyVariant Identifiers: chr11:g.6636777C>T (hg19) ; chr11:g.6615546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615546C>T , CM000673.2:g.6615546C>T	GRCh38
NC_000011.9:g.6636777C>T , CM000673.1:g.6636777C>T	GRCh37
NC_000011.8:g.6593353C>T	NCBI36
NG_008653.1:g.8916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1048G>A	ENSP00000507321.1:p.Val350Met
ENST00000299427.12:c.1162G>A MANE Select	ENSP00000299427.6:p.Val388Met
ENST00000436873.7:c.399G>A
ENST00000524924.2:n.282G>A
ENST00000533371.6:c.433G>A	ENSP00000437066.1:p.Val145Met
ENST00000642892.1:c.433G>A	ENSP00000494165.1:p.Val145Met
ENST00000643342.1:c.236-1G>A
ENST00000643439.1:c.*902G>A	ENSP00000495849.1:n.*902G>A
ENST00000643479.1:n.1348G>A
ENST00000643516.1:c.671G>A
ENST00000644218.1:c.973G>A	ENSP00000493574.1:p.Val325Met
ENST00000644683.1:c.*615G>A	ENSP00000494085.1:n.*615G>A
ENST00000644810.1:c.883G>A	ENSP00000495895.1:p.Val295Met
ENST00000644831.1:n.1338G>A
ENST00000644933.1:c.*28G>A	ENSP00000496133.1:n.*28G>A
ENST00000645285.1:c.*28G>A	ENSP00000495058.1:n.*28G>A
ENST00000645331.1:n.2367G>A
ENST00000645620.1:c.433G>A	ENSP00000493657.1:p.Val145Met
ENST00000646691.1:n.937G>A
ENST00000646777.1:n.1495G>A
ENST00000647016.1:n.1642G>A
ENST00000647152.1:c.433G>A	ENSP00000495893.1:p.Val145Met
ENST00000647209.1:c.*1031G>A	ENSP00000495558.1:n.*1031G>A
ENST00000647346.1:n.2182G>A
ENST00000299427.10:c.1162G>A	ENSP00000299427.6:p.Val388Met
ENST00000524924.1:n.117G>A
ENST00000532191.1:n.215G>A
ENST00000533371.5:c.433G>A	ENSP00000437066.1:p.Val145Met
ENST00000611494.4:c.1162G>A	ENSP00000484546.1:p.Val388Met
NM_000391.3:c.1162G>A	NP_000382.3:p.Val388Met
NM_000391.4:c.1162G>A MANE Select	NP_000382.3:p.Val388Met