Canonical Allele Identifier: CA379472217

Gene: TPP1

Linked Data

• ClinVar Variation Id: 639975
• ClinVar RCV Id: RCV001873237 ; RCV001830691
• dbSNP Id: rs371204585
• gnomAD v4: 11-6614680-G-A
• MyVariant Identifiers: chr11:g.6635911G>A (hg19) ; chr11:g.6614680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614680G>A , CM000673.2:g.6614680G>A	GRCh38
NC_000011.9:g.6635911G>A , CM000673.1:g.6635911G>A	GRCh37
NC_000011.8:g.6592487G>A	NCBI36
NG_008653.1:g.9782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1444C>T	ENSP00000507321.1:p.Arg482Cys
ENST00000299427.12:c.1558C>T MANE Select	ENSP00000299427.6:p.Arg520Cys
ENST00000524611.2:n.597C>T
ENST00000524924.2:n.678C>T
ENST00000533371.6:c.829C>T	ENSP00000437066.1:p.Arg277Cys
ENST00000642892.1:c.829C>T	ENSP00000494165.1:p.Arg277Cys
ENST00000643342.1:c.631C>T
ENST00000643439.1:c.*1298C>T	ENSP00000495849.1:n.*1298C>T
ENST00000643479.1:n.1744C>T
ENST00000643516.1:c.1067C>T
ENST00000644218.1:c.1369C>T	ENSP00000493574.1:p.Arg457Cys
ENST00000644683.1:c.*1011C>T	ENSP00000494085.1:n.*1011C>T
ENST00000644810.1:c.1279C>T	ENSP00000495895.1:p.Arg427Cys
ENST00000644831.1:n.1734C>T
ENST00000644933.1:c.*424C>T	ENSP00000496133.1:n.*424C>T
ENST00000645285.1:c.*424C>T	ENSP00000495058.1:n.*424C>T
ENST00000645331.1:n.2763C>T
ENST00000645620.1:c.829C>T	ENSP00000493657.1:p.Arg277Cys
ENST00000646691.1:n.1445C>T
ENST00000646777.1:n.1891C>T
ENST00000647016.1:n.2038C>T
ENST00000647152.1:c.829C>T	ENSP00000495893.1:p.Arg277Cys
ENST00000647209.1:c.*1427C>T	ENSP00000495558.1:n.*1427C>T
ENST00000647346.1:n.2578C>T
ENST00000299427.10:c.1558C>T	ENSP00000299427.6:p.Arg520Cys
ENST00000524611.1:n.436C>T
ENST00000533371.5:c.829C>T	ENSP00000437066.1:p.Arg277Cys
ENST00000611494.4:c.1558C>T	ENSP00000484546.1:p.Arg520Cys
NM_000391.3:c.1558C>T	NP_000382.3:p.Arg520Cys
NM_000391.4:c.1558C>T MANE Select	NP_000382.3:p.Arg520Cys