Canonical Allele Identifier: CA217321529

Gene: TPP1

Linked Data

• ClinVar Variation Id: 427077
• ClinVar RCV Id: RCV000489192 ; RCV001829405
• dbSNP Id: rs1035033641
• gnomAD v2: 11-6636488-G-A
• gnomAD v3: 11-6615257-G-A
• gnomAD v4: 11-6615257-G-A
• MyVariant Identifiers: chr11:g.6636488G>A (hg19) ; chr11:g.6615257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615257G>A , CM000673.2:g.6615257G>A	GRCh38
NC_000011.9:g.6636488G>A , CM000673.1:g.6636488G>A	GRCh37
NC_000011.8:g.6593064G>A	NCBI36
NG_008653.1:g.9205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1225C>T	ENSP00000507321.1:p.Arg409Cys
ENST00000299427.12:c.1339C>T MANE Select	ENSP00000299427.6:p.Arg447Cys
ENST00000524611.2:n.199C>T
ENST00000524924.2:n.459C>T
ENST00000533371.6:c.610C>T	ENSP00000437066.1:p.Arg204Cys
ENST00000642892.1:c.610C>T	ENSP00000494165.1:p.Arg204Cys
ENST00000643342.1:c.412C>T
ENST00000643439.1:c.*1079C>T	ENSP00000495849.1:n.*1079C>T
ENST00000643479.1:n.1525C>T
ENST00000643516.1:c.848C>T
ENST00000644218.1:c.1150C>T	ENSP00000493574.1:p.Arg384Cys
ENST00000644683.1:c.*792C>T	ENSP00000494085.1:n.*792C>T
ENST00000644810.1:c.1060C>T	ENSP00000495895.1:p.Arg354Cys
ENST00000644831.1:n.1515C>T
ENST00000644933.1:c.*205C>T	ENSP00000496133.1:n.*205C>T
ENST00000645285.1:c.*205C>T	ENSP00000495058.1:n.*205C>T
ENST00000645331.1:n.2544C>T
ENST00000645620.1:c.610C>T	ENSP00000493657.1:p.Arg204Cys
ENST00000646691.1:n.1226C>T
ENST00000646777.1:n.1672C>T
ENST00000647016.1:n.1819C>T
ENST00000647152.1:c.610C>T	ENSP00000495893.1:p.Arg204Cys
ENST00000647209.1:c.*1208C>T	ENSP00000495558.1:n.*1208C>T
ENST00000647346.1:n.2359C>T
ENST00000299427.10:c.1339C>T	ENSP00000299427.6:p.Arg447Cys
ENST00000524611.1:n.217C>T
ENST00000532191.1:n.392C>T
ENST00000533371.5:c.610C>T	ENSP00000437066.1:p.Arg204Cys
ENST00000611494.4:c.1339C>T	ENSP00000484546.1:p.Arg447Cys
NM_000391.3:c.1339C>T	NP_000382.3:p.Arg447Cys
NM_000391.4:c.1339C>T MANE Select	NP_000382.3:p.Arg447Cys