Canonical Allele Identifier: CA4823130
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2189412
ClinVar RCV Id: RCV002607339
dbSNP Id: rs149970869
gnomAD v3: 8-99391621-T-C
gnomAD v4: 8-99391621-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99391621T>C , CM000670.2:g.99391621T>C GRCh38
NC_000008.10:g.100403849T>C , CM000670.1:g.100403849T>C GRCh37
NC_000008.9:g.100473025T>C NCBI36
NG_007098.2:g.383356T>C , LRG_351:g.383356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355155.6:c.2996T>C ENSP00000347281.2:p.Ile999Thr
ENST00000682145.1:n.2876T>C
ENST00000682153.1:c.2999T>C ENSP00000507923.1:p.Ile1000Thr
ENST00000682234.1:c.2999T>C ENSP00000508225.1:p.Ile1000Thr
ENST00000682358.1:n.3069T>C
ENST00000683334.1:c.2999T>C ENSP00000507369.1:p.Ile1000Thr
ENST00000683486.1:n.3065T>C
ENST00000683619.1:n.3171T>C
ENST00000683869.1:n.3080T>C
ENST00000357162.7:c.2999T>C MANE Select ENSP00000349685.2:p.Ile1000Thr
ENST00000358544.7:c.2999T>C MANE Plus Clinical ENSP00000351346.2:p.Ile1000Thr
ENST00000357162.6:c.2999T>C ENSP00000349685.2:p.Ile1000Thr
ENST00000358544.6:c.2999T>C ENSP00000351346.2:p.Ile1000Thr
ENST00000496144.5:c.2999T>C ENSP00000430900.1:p.Ile1000Thr
ENST00000521037.1:n.170T>C
ENST00000522802.5:n.221T>C
NM_017890.4:c.2999T>C , LRG_351t1:c.2999T>C NP_060360.3:p.Ile1000Thr
NM_152564.4:c.2999T>C , LRG_351t2:c.2999T>C NP_689777.3:p.Ile1000Thr
XM_005250800.2:c.2999T>C XP_005250857.1:p.Ile1000Thr
XM_005250801.3:c.2999T>C XP_005250858.1:p.Ile1000Thr
XM_006716510.2:c.2999T>C XP_006716573.1:p.Ile1000Thr
XM_011516848.1:c.2996T>C XP_011515150.1:p.Ile999Thr
XM_011516849.1:c.2999T>C XP_011515151.1:p.Ile1000Thr
XM_011516850.1:c.2621T>C XP_011515152.1:p.Ile874Thr
XM_011516853.1:c.2999T>C XP_011515155.1:p.Ile1000Thr
XM_011516855.1:c.2999T>C XP_011515157.1:p.Ile1000Thr
XM_011516856.1:c.2999T>C XP_011515158.1:p.Ile1000Thr
XM_011516857.1:c.2999T>C XP_011515159.1:p.Ile1000Thr
XM_011516858.1:c.2999T>C XP_011515160.1:p.Ile1000Thr
XM_011516859.1:c.2999T>C XP_011515161.1:p.Ile1000Thr
XM_011516860.1:c.2999T>C XP_011515162.1:p.Ile1000Thr
XM_011516861.1:c.2999T>C XP_011515163.1:p.Ile1000Thr
XR_928301.1:n.3102T>C
XR_928302.1:n.3102T>C
XR_928303.1:n.3102T>C
XR_928304.1:n.3102T>C
XM_005250800.3:c.2999T>C XP_005250857.1:p.Ile1000Thr
XM_005250801.5:c.2999T>C XP_005250858.1:p.Ile1000Thr
XM_006716510.3:c.2999T>C XP_006716573.1:p.Ile1000Thr
XM_011516848.2:c.2996T>C XP_011515150.1:p.Ile999Thr
XM_011516849.2:c.2999T>C XP_011515151.1:p.Ile1000Thr
XM_011516850.2:c.2621T>C XP_011515152.1:p.Ile874Thr
XM_011516853.2:c.2999T>C XP_011515155.1:p.Ile1000Thr
XM_011516859.2:c.2999T>C XP_011515161.1:p.Ile1000Thr
XM_017013109.1:c.2804T>C XP_016868598.1:p.Ile935Thr
XM_024447074.1:c.1784T>C XP_024302842.1:p.Ile595Thr
XM_024447075.1:c.2999T>C XP_024302843.1:p.Ile1000Thr
XR_001745481.1:n.3102T>C
XR_001745482.2:n.3102T>C
XR_001745484.2:n.3102T>C
XR_002956601.1:n.3099T>C
XR_002956602.1:n.3102T>C
XR_928302.2:n.3102T>C
NM_017890.5:c.2999T>C MANE Plus Clinical NP_060360.3:p.Ile1000Thr
NM_152564.5:c.2999T>C MANE Select NP_689777.3:p.Ile1000Thr