Canonical Allele Identifier: CA16041252
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371593
ClinVar RCV Id: RCV000409926
dbSNP Id: rs1057517393

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99776958T>C , CM000670.2:g.99776958T>C GRCh38
NC_000008.10:g.100789186T>C , CM000670.1:g.100789186T>C GRCh37
NC_000008.9:g.100858362T>C NCBI36
NG_007098.2:g.768693T>C , LRG_351:g.768693T>C

Transcript Alleles

HGVS Amino-acid change
NM_017890.4:c.7504+2T>C , LRG_351t1:c.7504+2T>C NP_060360.3:p.=
NM_152564.4:c.7429+2T>C , LRG_351t2:c.7429+2T>C NP_689777.3:p.=
XM_005250800.2:c.7504+2T>C XP_005250857.1:p.=
XM_005250801.3:c.7504+2T>C XP_005250858.1:p.=
XM_011516848.1:c.7501+2T>C XP_011515150.1:p.=
XM_011516849.1:c.7426+2T>C XP_011515151.1:p.=
XM_011516850.1:c.7126+2T>C XP_011515152.1:p.=
XM_011516851.1:c.4390+2T>C XP_011515153.1:p.=
XM_011516852.1:c.4390+2T>C XP_011515154.1:p.=
XM_011516853.1:c.7504+2T>C XP_011515155.1:p.=
XM_011516854.1:c.3283+2T>C XP_011515156.1:p.=
XR_928446.1:n.1830+5520A>G
XM_005250800.3:c.7504+2T>C XP_005250857.1:p.=
XM_005250801.5:c.7504+2T>C XP_005250858.1:p.=
XM_011516848.2:c.7501+2T>C XP_011515150.1:p.=
XM_011516849.2:c.7426+2T>C XP_011515151.1:p.=
XM_011516850.2:c.7126+2T>C XP_011515152.1:p.=
XM_011516851.2:c.4390+2T>C XP_011515153.1:p.=
XM_011516852.2:c.4390+2T>C XP_011515154.1:p.=
XM_011516853.2:c.7504+2T>C XP_011515155.1:p.=
XM_011516854.2:c.3283+2T>C XP_011515156.1:p.=
XM_017013109.1:c.7309+2T>C XP_016868598.1:p.=
XM_017013111.1:c.4390+2T>C XP_016868600.1:p.=
XM_017013112.1:c.3061+2T>C XP_016868601.1:p.=
XM_024447074.1:c.6289+2T>C XP_024302842.1:p.=
ENST00000357162.6:c.7429+2T>C ENSP00000349685.2:p.=
ENST00000358544.6:c.7504+2T>C ENSP00000351346.2:p.=
ENST00000518569.1:n.378-1724T>C