Canonical Allele Identifier: CA583864019

Gene: VPS13B

Linked Data

• dbSNP Id: rs751890954
• gnomAD v2: 8-100403956-G-T
• gnomAD v4: 8-99391728-G-T
• MyVariant Identifiers: chr8:g.100403956G>T (hg19) ; chr8:g.99391728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99391728G>T , CM000670.2:g.99391728G>T	GRCh38
NC_000008.10:g.100403956G>T , CM000670.1:g.100403956G>T	GRCh37
NC_000008.9:g.100473132G>T	NCBI36
NG_007098.2:g.383463G>T , LRG_351:g.383463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.3079+24G>T	ENSP00000347281.2:n.3079+24G>T
ENST00000682145.1:n.2959+24G>T
ENST00000682153.1:c.3082+24G>T	ENSP00000507923.1:n.3082+24G>T
ENST00000682234.1:c.3082+24G>T	ENSP00000508225.1:n.3082+24G>T
ENST00000682358.1:n.3152+24G>T
ENST00000683334.1:c.3082+24G>T	ENSP00000507369.1:n.3082+24G>T
ENST00000683486.1:n.3148+24G>T
ENST00000683619.1:n.3254+24G>T
ENST00000683869.1:n.3187G>T
ENST00000357162.7:c.3082+24G>T MANE Select	ENSP00000349685.2:n.3082+24G>T
ENST00000358544.7:c.3082+24G>T MANE Plus Clinical	ENSP00000351346.2:n.3082+24G>T
ENST00000357162.6:c.3082+24G>T	ENSP00000349685.2:n.3082+24G>T
ENST00000358544.6:c.3082+24G>T	ENSP00000351346.2:n.3082+24G>T
ENST00000496144.5:c.3082+24G>T	ENSP00000430900.1:n.3082+24G>T
ENST00000521037.1:n.253+24G>T
ENST00000522802.5:n.304+24G>T
NM_017890.4:c.3082+24G>T , LRG_351t1:c.3082+24G>T	NP_060360.3:n.3082+24G>T
NM_152564.4:c.3082+24G>T , LRG_351t2:c.3082+24G>T	NP_689777.3:n.3082+24G>T
XM_005250800.2:c.3082+24G>T	XP_005250857.1:n.3082+24G>T
XM_005250801.3:c.3082+24G>T	XP_005250858.1:n.3082+24G>T
XM_006716510.2:c.3082+24G>T	XP_006716573.1:n.3082+24G>T
XM_011516848.1:c.3079+24G>T	XP_011515150.1:n.3079+24G>T
XM_011516849.1:c.3082+24G>T	XP_011515151.1:n.3082+24G>T
XM_011516850.1:c.2704+24G>T	XP_011515152.1:n.2704+24G>T
XM_011516851.1:c.-49+24G>T	XP_011515153.1:n.-49+24G>T
XM_011516853.1:c.3082+24G>T	XP_011515155.1:n.3082+24G>T
XM_011516855.1:c.3082+24G>T	XP_011515157.1:n.3082+24G>T
XM_011516856.1:c.3082+24G>T	XP_011515158.1:n.3082+24G>T
XM_011516857.1:c.3082+24G>T	XP_011515159.1:n.3082+24G>T
XM_011516858.1:c.3082+24G>T	XP_011515160.1:n.3082+24G>T
XM_011516859.1:c.3082+24G>T	XP_011515161.1:n.3082+24G>T
XM_011516860.1:c.3082+24G>T	XP_011515162.1:n.3082+24G>T
XM_011516861.1:c.3082+24G>T	XP_011515163.1:n.3082+24G>T
XR_928301.1:n.3185+24G>T
XR_928302.1:n.3185+24G>T
XR_928303.1:n.3185+24G>T
XR_928304.1:n.3185+24G>T
XM_005250800.3:c.3082+24G>T	XP_005250857.1:n.3082+24G>T
XM_005250801.5:c.3082+24G>T	XP_005250858.1:n.3082+24G>T
XM_006716510.3:c.3082+24G>T	XP_006716573.1:n.3082+24G>T
XM_011516848.2:c.3079+24G>T	XP_011515150.1:n.3079+24G>T
XM_011516849.2:c.3082+24G>T	XP_011515151.1:n.3082+24G>T
XM_011516850.2:c.2704+24G>T	XP_011515152.1:n.2704+24G>T
XM_011516851.2:c.-49+24G>T	XP_011515153.1:n.-49+24G>T
XM_011516853.2:c.3082+24G>T	XP_011515155.1:n.3082+24G>T
XM_011516859.2:c.3082+24G>T	XP_011515161.1:n.3082+24G>T
XM_017013109.1:c.2887+24G>T	XP_016868598.1:n.2887+24G>T
XM_024447074.1:c.1867+24G>T	XP_024302842.1:n.1867+24G>T
XM_024447075.1:c.3082+24G>T	XP_024302843.1:n.3082+24G>T
XR_001745481.1:n.3185+24G>T
XR_001745482.2:n.3185+24G>T
XR_001745484.2:n.3185+24G>T
XR_002956601.1:n.3182+24G>T
XR_002956602.1:n.3185+24G>T
XR_928302.2:n.3185+24G>T
NM_017890.5:c.3082+24G>T MANE Plus Clinical	NP_060360.3:n.3082+24G>T
NM_152564.5:c.3082+24G>T MANE Select	NP_689777.3:n.3082+24G>T