Canonical Allele Identifier: CA472769255

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1978915
• ClinVar RCV Id: RCV002775170
• gnomAD v4: 11-6614603-T-C
• MyVariant Identifiers: chr11:g.6635834T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614603T>C , CM000673.2:g.6614603T>C	GRCh38
NC_000011.9:g.6635834T>C , CM000673.1:g.6635834T>C	GRCh37
NC_000011.8:g.6592410T>C	NCBI36
NG_008653.1:g.9859A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1521A>G	ENSP00000507321.1:p.Val507=
ENST00000299427.12:c.1635A>G MANE Select	ENSP00000299427.6:p.Val545=
ENST00000524611.2:n.674A>G
ENST00000524924.2:n.755A>G
ENST00000533371.6:c.906A>G	ENSP00000437066.1:p.Val302=
ENST00000642892.1:c.906A>G	ENSP00000494165.1:p.Val302=
ENST00000643342.1:c.708A>G
ENST00000643439.1:c.*1375A>G	ENSP00000495849.1:n.*1375A>G
ENST00000643479.1:n.1821A>G
ENST00000643516.1:c.1144A>G
ENST00000644218.1:c.1446A>G	ENSP00000493574.1:p.Val482=
ENST00000644683.1:c.*1088A>G	ENSP00000494085.1:n.*1088A>G
ENST00000644810.1:c.1356A>G	ENSP00000495895.1:p.Val452=
ENST00000644831.1:n.1811A>G
ENST00000644933.1:c.*501A>G	ENSP00000496133.1:n.*501A>G
ENST00000645285.1:c.*501A>G	ENSP00000495058.1:n.*501A>G
ENST00000645331.1:n.2840A>G
ENST00000645620.1:c.906A>G	ENSP00000493657.1:p.Val302=
ENST00000646691.1:n.1522A>G
ENST00000646777.1:n.1968A>G
ENST00000647016.1:n.2115A>G
ENST00000647152.1:c.906A>G	ENSP00000495893.1:p.Val302=
ENST00000647209.1:c.*1504A>G	ENSP00000495558.1:n.*1504A>G
ENST00000647346.1:n.2655A>G
ENST00000299427.10:c.1635A>G	ENSP00000299427.6:p.Val545=
ENST00000533371.5:c.906A>G	ENSP00000437066.1:p.Val302=
ENST00000611494.4:c.1635A>G	ENSP00000484546.1:p.Val545=
NM_000391.3:c.1635A>G	NP_000382.3:p.Val545=
NM_000391.4:c.1635A>G MANE Select	NP_000382.3:p.Val545=