Canonical Allele Identifier: CA379474610

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2918250
• ClinVar RCV Id: RCV003737994
• dbSNP Id: rs1353216958
• gnomAD v2: 11-6637706-C-T
• gnomAD v4: 11-6616475-C-T
• MyVariant Identifiers: chr11:g.6637706C>T (hg19) ; chr11:g.6616475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616475C>T , CM000673.2:g.6616475C>T	GRCh38
NC_000011.9:g.6637706C>T , CM000673.1:g.6637706C>T	GRCh37
NC_000011.8:g.6594282C>T	NCBI36
NG_008653.1:g.7987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.801G>A	ENSP00000507321.1:p.Leu267=
ENST00000299427.12:c.915G>A MANE Select	ENSP00000299427.6:p.Leu305=
ENST00000436873.7:c.313-401G>A
ENST00000530040.2:n.508G>A
ENST00000533371.6:c.186G>A	ENSP00000437066.1:p.Leu62=
ENST00000642892.1:c.186G>A	ENSP00000494165.1:p.Leu62=
ENST00000643342.1:c.5G>A
ENST00000643439.1:c.*655G>A	ENSP00000495849.1:n.*655G>A
ENST00000643479.1:n.1101G>A
ENST00000643516.1:c.424G>A
ENST00000644218.1:c.886+186G>A	ENSP00000493574.1:n.886+186G>A
ENST00000644683.1:c.*368G>A	ENSP00000494085.1:n.*368G>A
ENST00000644810.1:c.636G>A	ENSP00000495895.1:p.Leu212=
ENST00000644831.1:n.1091G>A
ENST00000644933.1:c.186G>A	ENSP00000496133.1:p.Leu62=
ENST00000645285.1:c.157+186G>A	ENSP00000495058.1:n.157+186G>A
ENST00000645331.1:n.1438G>A
ENST00000645620.1:c.186G>A	ENSP00000493657.1:p.Leu62=
ENST00000646691.1:n.8G>A
ENST00000646777.1:n.1248G>A
ENST00000647016.1:n.1395G>A
ENST00000647152.1:c.186G>A	ENSP00000495893.1:p.Leu62=
ENST00000647209.1:c.*784G>A	ENSP00000495558.1:n.*784G>A
ENST00000647346.1:n.1935G>A
ENST00000299427.10:c.915G>A	ENSP00000299427.6:p.Leu305=
ENST00000436873.6:c.479G>A	ENSP00000398136.2:p.Cys160Tyr
ENST00000533371.5:c.186G>A	ENSP00000437066.1:p.Leu62=
ENST00000611494.4:c.915G>A	ENSP00000484546.1:p.Leu305=
NM_000391.3:c.915G>A	NP_000382.3:p.Leu305=
NM_000391.4:c.915G>A MANE Select	NP_000382.3:p.Leu305=