Canonical Allele Identifier: CA5858700

Gene: TPP1

Linked Data

• ClinVar Variation Id: 576289
• ClinVar RCV Id: RCV000731066 ; RCV001274538 ; RCV002315999
• dbSNP Id: rs143584882
• ExAC: 11:6636687 G / A
• gnomAD v2: 11-6636687-G-A
• gnomAD v3: 11-6615456-G-A
• gnomAD v4: 11-6615456-G-A
• MyVariant Identifiers: chr11:g.6636687G>A (hg19) ; chr11:g.6615456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615456G>A , CM000673.2:g.6615456G>A	GRCh38
NC_000011.9:g.6636687G>A , CM000673.1:g.6636687G>A	GRCh37
NC_000011.8:g.6593263G>A	NCBI36
NG_008653.1:g.9006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1138C>T	ENSP00000507321.1:p.Arg380Trp
ENST00000299427.12:c.1252C>T MANE Select	ENSP00000299427.6:p.Arg418Trp
ENST00000436873.7:c.489C>T
ENST00000524924.2:n.372C>T
ENST00000533371.6:c.523C>T	ENSP00000437066.1:p.Arg175Trp
ENST00000642892.1:c.523C>T	ENSP00000494165.1:p.Arg175Trp
ENST00000643342.1:c.325C>T
ENST00000643439.1:c.*992C>T	ENSP00000495849.1:n.*992C>T
ENST00000643479.1:n.1438C>T
ENST00000643516.1:c.761C>T
ENST00000644218.1:c.1063C>T	ENSP00000493574.1:p.Arg355Trp
ENST00000644683.1:c.*705C>T	ENSP00000494085.1:n.*705C>T
ENST00000644810.1:c.973C>T	ENSP00000495895.1:p.Arg325Trp
ENST00000644831.1:n.1428C>T
ENST00000644933.1:c.*118C>T	ENSP00000496133.1:n.*118C>T
ENST00000645285.1:c.*118C>T	ENSP00000495058.1:n.*118C>T
ENST00000645331.1:n.2457C>T
ENST00000645620.1:c.523C>T	ENSP00000493657.1:p.Arg175Trp
ENST00000646691.1:n.1027C>T
ENST00000646777.1:n.1585C>T
ENST00000647016.1:n.1732C>T
ENST00000647152.1:c.523C>T	ENSP00000495893.1:p.Arg175Trp
ENST00000647209.1:c.*1121C>T	ENSP00000495558.1:n.*1121C>T
ENST00000647346.1:n.2272C>T
ENST00000299427.10:c.1252C>T	ENSP00000299427.6:p.Arg418Trp
ENST00000524611.1:n.18C>T
ENST00000524924.1:n.207C>T
ENST00000532191.1:n.305C>T
ENST00000533371.5:c.523C>T	ENSP00000437066.1:p.Arg175Trp
ENST00000611494.4:c.1252C>T	ENSP00000484546.1:p.Arg418Trp
NM_000391.3:c.1252C>T	NP_000382.3:p.Arg418Trp
NM_000391.4:c.1252C>T MANE Select	NP_000382.3:p.Arg418Trp