Canonical Allele Identifier: CA16041515
Gene: TPP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371022
ClinVar RCV Id: RCV000411672
dbSNP Id: rs1057516945

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616973A>C , CM000673.2:g.6616973A>C GRCh38
NC_000011.9:g.6638204A>C , CM000673.1:g.6638204A>C GRCh37
NC_000011.8:g.6594780A>C NCBI36
NG_008653.1:g.7489T>G

Transcript Alleles

HGVS Amino-acid change
NM_000391.3:c.687+2T>G VV NP_000382.3:p.=
ENST00000299427.10:c.687+2T>G ENSP00000299427.6:p.=
ENST00000436873.6:c.450+386T>G ENSP00000398136.2:p.=
ENST00000524788.1:n.387+2T>G
ENST00000528807.1:n.237+2T>G
ENST00000533371.5:c.-43+2T>G ENSP00000437066.1:p.=
ENST00000611494.4:c.687+2T>G ENSP00000484546.1:p.=