Canonical Allele Identifier: CA16041509
Gene: TPP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370467
ClinVar RCV Id: RCV000409021
dbSNP Id: rs1057516511

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614687C>T , CM000673.2:g.6614687C>T GRCh38
NC_000011.9:g.6635918C>T , CM000673.1:g.6635918C>T GRCh37
NC_000011.8:g.6592494C>T NCBI36
NG_008653.1:g.9775G>A

Transcript Alleles

HGVS Amino-acid change
NM_000391.3:c.1552-1G>A VV NP_000382.3:p.=
ENST00000299427.10:c.1552-1G>A ENSP00000299427.6:p.=
ENST00000524611.1:n.430-1G>A
ENST00000533371.5:c.823-1G>A ENSP00000437066.1:p.=
ENST00000611494.4:c.1552-1G>A ENSP00000484546.1:p.=