Canonical Allele Identifier: CA217321529
Gene: TPP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 427077
ClinVar RCV Id: RCV000489192
dbSNP Id: rs1035033641

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
NM_000391.3:c.1339C>T VV NP_000382.3:p.Arg447Cys
NM_000391.4:c.1339C>T VV MANE Preferred NP_000382.3:p.Arg447Cys
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