Canonical Allele Identifier: CA472769233

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2810695
• ClinVar RCV Id: RCV003682547
• dbSNP Id: rs1272120677
• gnomAD v2: 11-6635831-T-C
• gnomAD v4: 11-6614600-T-C
• MyVariant Identifiers: chr11:g.6635831T>C (hg19) ; chr11:g.6614600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614600T>C , CM000673.2:g.6614600T>C	GRCh38
NC_000011.9:g.6635831T>C , CM000673.1:g.6635831T>C	GRCh37
NC_000011.8:g.6592407T>C	NCBI36
NG_008653.1:g.9862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1524A>G	ENSP00000507321.1:p.Thr508=
ENST00000299427.12:c.1638A>G MANE Select	ENSP00000299427.6:p.Thr546=
ENST00000524611.2:n.677A>G
ENST00000533371.6:c.909A>G	ENSP00000437066.1:p.Thr303=
ENST00000642892.1:c.909A>G	ENSP00000494165.1:p.Thr303=
ENST00000643342.1:c.711A>G
ENST00000643439.1:c.*1378A>G	ENSP00000495849.1:n.*1378A>G
ENST00000643479.1:n.1824A>G
ENST00000643516.1:c.1147A>G
ENST00000644218.1:c.1449A>G	ENSP00000493574.1:p.Thr483=
ENST00000644683.1:c.*1091A>G	ENSP00000494085.1:n.*1091A>G
ENST00000644810.1:c.1359A>G	ENSP00000495895.1:p.Thr453=
ENST00000644831.1:n.1814A>G
ENST00000644933.1:c.*504A>G	ENSP00000496133.1:n.*504A>G
ENST00000645285.1:c.*504A>G	ENSP00000495058.1:n.*504A>G
ENST00000645331.1:n.2843A>G
ENST00000645620.1:c.909A>G	ENSP00000493657.1:p.Thr303=
ENST00000646691.1:n.1525A>G
ENST00000646777.1:n.1971A>G
ENST00000647016.1:n.2118A>G
ENST00000647152.1:c.909A>G	ENSP00000495893.1:p.Thr303=
ENST00000647209.1:c.*1507A>G	ENSP00000495558.1:n.*1507A>G
ENST00000647346.1:n.2658A>G
ENST00000299427.10:c.1638A>G	ENSP00000299427.6:p.Thr546=
ENST00000533371.5:c.909A>G	ENSP00000437066.1:p.Thr303=
ENST00000611494.4:c.1638A>G	ENSP00000484546.1:p.Thr546=
NM_000391.3:c.1638A>G	NP_000382.3:p.Thr546=
NM_000391.4:c.1638A>G MANE Select	NP_000382.3:p.Thr546=