Canonical Allele Identifier: CA379472893

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1432459
• ClinVar RCV Id: RCV001959872
• dbSNP Id: rs1855565943
• gnomAD v3: 11-6615461-A-T
• gnomAD v4: 11-6615461-A-T
• MyVariant Identifiers: chr11:g.6636692A>T (hg19) ; chr11:g.6615461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615461A>T , CM000673.2:g.6615461A>T	GRCh38
NC_000011.9:g.6636692A>T , CM000673.1:g.6636692A>T	GRCh37
NC_000011.8:g.6593268A>T	NCBI36
NG_008653.1:g.9001T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1133T>A	ENSP00000507321.1:p.Phe378Tyr
ENST00000299427.12:c.1247T>A MANE Select	ENSP00000299427.6:p.Phe416Tyr
ENST00000436873.7:c.484T>A
ENST00000524924.2:n.367T>A
ENST00000533371.6:c.518T>A	ENSP00000437066.1:p.Phe173Tyr
ENST00000642892.1:c.518T>A	ENSP00000494165.1:p.Phe173Tyr
ENST00000643342.1:c.320T>A
ENST00000643439.1:c.*987T>A	ENSP00000495849.1:n.*987T>A
ENST00000643479.1:n.1433T>A
ENST00000643516.1:c.756T>A
ENST00000644218.1:c.1058T>A	ENSP00000493574.1:p.Phe353Tyr
ENST00000644683.1:c.*700T>A	ENSP00000494085.1:n.*700T>A
ENST00000644810.1:c.968T>A	ENSP00000495895.1:p.Phe323Tyr
ENST00000644831.1:n.1423T>A
ENST00000644933.1:c.*113T>A	ENSP00000496133.1:n.*113T>A
ENST00000645285.1:c.*113T>A	ENSP00000495058.1:n.*113T>A
ENST00000645331.1:n.2452T>A
ENST00000645620.1:c.518T>A	ENSP00000493657.1:p.Phe173Tyr
ENST00000646691.1:n.1022T>A
ENST00000646777.1:n.1580T>A
ENST00000647016.1:n.1727T>A
ENST00000647152.1:c.518T>A	ENSP00000495893.1:p.Phe173Tyr
ENST00000647209.1:c.*1116T>A	ENSP00000495558.1:n.*1116T>A
ENST00000647346.1:n.2267T>A
ENST00000299427.10:c.1247T>A	ENSP00000299427.6:p.Phe416Tyr
ENST00000524611.1:n.13T>A
ENST00000524924.1:n.202T>A
ENST00000532191.1:n.300T>A
ENST00000533371.5:c.518T>A	ENSP00000437066.1:p.Phe173Tyr
ENST00000611494.4:c.1247T>A	ENSP00000484546.1:p.Phe416Tyr
NM_000391.3:c.1247T>A	NP_000382.3:p.Phe416Tyr
NM_000391.4:c.1247T>A MANE Select	NP_000382.3:p.Phe416Tyr