Canonical Allele Identifier: CA4823127

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1154659
• ClinVar RCV Id: RCV001496753
• dbSNP Id: rs750994865
• ExAC: 8:100403832 A / G
• gnomAD v2: 8-100403832-A-G
• gnomAD v4: 8-99391604-A-G
• MyVariant Identifiers: chr8:g.100403832A>G (hg19) ; chr8:g.99391604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99391604A>G , CM000670.2:g.99391604A>G	GRCh38
NC_000008.10:g.100403832A>G , CM000670.1:g.100403832A>G	GRCh37
NC_000008.9:g.100473008A>G	NCBI36
NG_007098.2:g.383339A>G , LRG_351:g.383339A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355155.6:c.2979A>G	ENSP00000347281.2:p.Lys993=
ENST00000682145.1:n.2859A>G
ENST00000682153.1:c.2982A>G	ENSP00000507923.1:p.Lys994=
ENST00000682234.1:c.2982A>G	ENSP00000508225.1:p.Lys994=
ENST00000682358.1:n.3052A>G
ENST00000683334.1:c.2982A>G	ENSP00000507369.1:p.Lys994=
ENST00000683486.1:n.3048A>G
ENST00000683619.1:n.3154A>G
ENST00000683869.1:n.3063A>G
ENST00000357162.7:c.2982A>G MANE Select	ENSP00000349685.2:p.Lys994=
ENST00000358544.7:c.2982A>G MANE Plus Clinical	ENSP00000351346.2:p.Lys994=
ENST00000357162.6:c.2982A>G	ENSP00000349685.2:p.Lys994=
ENST00000358544.6:c.2982A>G	ENSP00000351346.2:p.Lys994=
ENST00000496144.5:c.2982A>G	ENSP00000430900.1:p.Lys994=
ENST00000521037.1:n.153A>G
ENST00000522802.5:n.204A>G
NM_017890.4:c.2982A>G , LRG_351t1:c.2982A>G	NP_060360.3:p.Lys994=
NM_152564.4:c.2982A>G , LRG_351t2:c.2982A>G	NP_689777.3:p.Lys994=
XM_005250800.2:c.2982A>G	XP_005250857.1:p.Lys994=
XM_005250801.3:c.2982A>G	XP_005250858.1:p.Lys994=
XM_006716510.2:c.2982A>G	XP_006716573.1:p.Lys994=
XM_011516848.1:c.2979A>G	XP_011515150.1:p.Lys993=
XM_011516849.1:c.2982A>G	XP_011515151.1:p.Lys994=
XM_011516850.1:c.2604A>G	XP_011515152.1:p.Lys868=
XM_011516853.1:c.2982A>G	XP_011515155.1:p.Lys994=
XM_011516855.1:c.2982A>G	XP_011515157.1:p.Lys994=
XM_011516856.1:c.2982A>G	XP_011515158.1:p.Lys994=
XM_011516857.1:c.2982A>G	XP_011515159.1:p.Lys994=
XM_011516858.1:c.2982A>G	XP_011515160.1:p.Lys994=
XM_011516859.1:c.2982A>G	XP_011515161.1:p.Lys994=
XM_011516860.1:c.2982A>G	XP_011515162.1:p.Lys994=
XM_011516861.1:c.2982A>G	XP_011515163.1:p.Lys994=
XR_928301.1:n.3085A>G
XR_928302.1:n.3085A>G
XR_928303.1:n.3085A>G
XR_928304.1:n.3085A>G
XM_005250800.3:c.2982A>G	XP_005250857.1:p.Lys994=
XM_005250801.5:c.2982A>G	XP_005250858.1:p.Lys994=
XM_006716510.3:c.2982A>G	XP_006716573.1:p.Lys994=
XM_011516848.2:c.2979A>G	XP_011515150.1:p.Lys993=
XM_011516849.2:c.2982A>G	XP_011515151.1:p.Lys994=
XM_011516850.2:c.2604A>G	XP_011515152.1:p.Lys868=
XM_011516853.2:c.2982A>G	XP_011515155.1:p.Lys994=
XM_011516859.2:c.2982A>G	XP_011515161.1:p.Lys994=
XM_017013109.1:c.2787A>G	XP_016868598.1:p.Lys929=
XM_024447074.1:c.1767A>G	XP_024302842.1:p.Lys589=
XM_024447075.1:c.2982A>G	XP_024302843.1:p.Lys994=
XR_001745481.1:n.3085A>G
XR_001745482.2:n.3085A>G
XR_001745484.2:n.3085A>G
XR_002956601.1:n.3082A>G
XR_002956602.1:n.3085A>G
XR_928302.2:n.3085A>G
NM_017890.5:c.2982A>G MANE Plus Clinical	NP_060360.3:p.Lys994=
NM_152564.5:c.2982A>G MANE Select	NP_689777.3:p.Lys994=