Canonical Allele Identifier: CA252377

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2642
• ClinVar RCV Id: RCV000002761 ; RCV000189781 ; RCV000526403 ; RCV002496238
• dbSNP Id: rs119455954
• ExAC: 11:6637287 C / T
• gnomAD v2: 11-6637287-C-T
• gnomAD v3: 11-6616056-C-T
• gnomAD v4: 11-6616056-C-T
• MyVariant Identifiers: chr11:g.6637287C>T (hg19) ; chr11:g.6616056C>T (hg38)
• PubMed: PMID:9295267 ; PMID:10330339 ; PMID:19038966 ; PMID:19038967 ; PMID:19246452 ; PMID:21990111 ; PMID:26075876

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616056C>T , CM000673.2:g.6616056C>T	GRCh38
NC_000011.9:g.6637287C>T , CM000673.1:g.6637287C>T	GRCh37
NC_000011.8:g.6593863C>T	NCBI36
NG_008653.1:g.8406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.980G>A	ENSP00000507321.1:p.Cys327Tyr
ENST00000299427.12:c.1094G>A MANE Select	ENSP00000299427.6:p.Cys365Tyr
ENST00000436873.7:c.331G>A
ENST00000524924.2:n.214G>A
ENST00000533371.6:c.365G>A	ENSP00000437066.1:p.Cys122Tyr
ENST00000642892.1:c.365G>A	ENSP00000494165.1:p.Cys122Tyr
ENST00000643342.1:c.184G>A
ENST00000643439.1:c.*834G>A	ENSP00000495849.1:n.*834G>A
ENST00000643479.1:n.1280G>A
ENST00000643516.1:c.603G>A
ENST00000644218.1:c.905G>A	ENSP00000493574.1:p.Cys302Tyr
ENST00000644683.1:c.*547G>A	ENSP00000494085.1:n.*547G>A
ENST00000644810.1:c.815G>A	ENSP00000495895.1:p.Cys272Tyr
ENST00000644831.1:n.1270G>A
ENST00000644933.1:c.365G>A	ENSP00000496133.1:p.Cys122Tyr
ENST00000645285.1:c.176G>A	ENSP00000495058.1:p.Cys59Tyr
ENST00000645331.1:n.1857G>A
ENST00000645620.1:c.365G>A	ENSP00000493657.1:p.Cys122Tyr
ENST00000646691.1:n.427G>A
ENST00000646777.1:n.1427G>A
ENST00000647016.1:n.1574G>A
ENST00000647152.1:c.365G>A	ENSP00000495893.1:p.Cys122Tyr
ENST00000647209.1:c.*963G>A	ENSP00000495558.1:n.*963G>A
ENST00000647346.1:n.2114G>A
ENST00000299427.10:c.1094G>A	ENSP00000299427.6:p.Cys365Tyr
ENST00000524924.1:n.49G>A
ENST00000533371.5:c.365G>A	ENSP00000437066.1:p.Cys122Tyr
ENST00000611494.4:c.1094G>A	ENSP00000484546.1:p.Cys365Tyr
NM_000391.3:c.1094G>A	NP_000382.3:p.Cys365Tyr
NM_000391.4:c.1094G>A MANE Select	NP_000382.3:p.Cys365Tyr