Canonical Allele Identifier: CA217320663

Gene: TPP1

Linked Data

• dbSNP Id: rs957684658
• gnomAD v3: 11-6614468-C-T
• gnomAD v4: 11-6614468-C-T
• MyVariant Identifiers: chr11:g.6635699C>T (hg19) ; chr11:g.6614468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614468C>T , CM000673.2:g.6614468C>T	GRCh38
NC_000011.9:g.6635699C>T , CM000673.1:g.6635699C>T	GRCh37
NC_000011.8:g.6592275C>T	NCBI36
NG_008653.1:g.9994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*78G>A	ENSP00000507321.1:n.*78G>A
ENST00000299427.12:c.*78G>A MANE Select	ENSP00000299427.6:n.*78G>A
ENST00000524611.2:n.809G>A
ENST00000533371.6:c.*78G>A	ENSP00000437066.1:n.*78G>A
ENST00000642892.1:c.*78G>A	ENSP00000494165.1:n.*78G>A
ENST00000643342.1:c.843G>A
ENST00000643439.1:c.*1510G>A	ENSP00000495849.1:n.*1510G>A
ENST00000643479.1:n.1956G>A
ENST00000643516.1:c.1279G>A
ENST00000644218.1:c.*78G>A	ENSP00000493574.1:n.*78G>A
ENST00000644683.1:c.*1223G>A	ENSP00000494085.1:n.*1223G>A
ENST00000644810.1:c.*78G>A	ENSP00000495895.1:n.*78G>A
ENST00000644831.1:n.1946G>A
ENST00000644933.1:c.*636G>A	ENSP00000496133.1:n.*636G>A
ENST00000645285.1:c.*636G>A	ENSP00000495058.1:n.*636G>A
ENST00000645331.1:n.2975G>A
ENST00000645620.1:c.*78G>A	ENSP00000493657.1:n.*78G>A
ENST00000646691.1:n.1657G>A
ENST00000646777.1:n.2103G>A
ENST00000647016.1:n.2250G>A
ENST00000647152.1:c.*78G>A	ENSP00000495893.1:n.*78G>A
ENST00000647209.1:c.*1639G>A	ENSP00000495558.1:n.*1639G>A
ENST00000647346.1:n.2790G>A
ENST00000299427.10:c.*78G>A	ENSP00000299427.6:n.*78G>A
ENST00000533371.5:c.*78G>A	ENSP00000437066.1:n.*78G>A
ENST00000611494.4:c.*98G>A	ENSP00000484546.1:n.*98G>A
NM_000391.3:c.*78G>A	NP_000382.3:n.*78G>A
NM_000391.4:c.*78G>A MANE Select	NP_000382.3:n.*78G>A