Canonical Allele Identifier: CA371795800

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 2088094
• ClinVar RCV Id: RCV003009893
• gnomAD v4: 8-99875535-G-A
• MyVariant Identifiers: chr8:g.100887763G>A (hg19) ; chr8:g.99875535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875535G>A , CM000670.2:g.99875535G>A	GRCh38
NC_000008.10:g.100887763G>A , CM000670.1:g.100887763G>A	GRCh37
NC_000008.9:g.100956939G>A	NCBI36
NG_007098.2:g.867270G>A , LRG_351:g.867270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1592G>A (VPS13B)	ENSP00000507923.1:n.*1592G>A
ENST00000682358.1:n.12568G>A (VPS13B)
ENST00000683334.1:c.*7620G>A (VPS13B)	ENSP00000507369.1:n.*7620G>A
ENST00000357162.7:c.11863G>A (VPS13B) MANE Select	ENSP00000349685.2:p.Val3955Met
ENST00000358544.7:c.11938G>A (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Val3980Met
ENST00000357162.6:c.11863G>A (VPS13B)	ENSP00000349685.2:p.Val3955Met
ENST00000358544.6:c.11938G>A (VPS13B)	ENSP00000351346.2:p.Val3980Met
ENST00000493587.1:n.1440G>A (VPS13B)
ENST00000520517.5:c.*142-443C>T (COX6C)	ENSP00000429991.1:n.*142-443C>T
ENST00000522934.5:c.*142-2242C>T (COX6C)	ENSP00000428702.1:n.*142-2242C>T
NM_017890.4:c.11938G>A , LRG_351t1:c.11938G>A (VPS13B)	NP_060360.3:p.Val3980Met
NM_152564.4:c.11863G>A , LRG_351t2:c.11863G>A (VPS13B)	NP_689777.3:p.Val3955Met
XM_005250800.2:c.11938G>A (VPS13B)	XP_005250857.1:p.Val3980Met
XM_005250801.3:c.11938G>A (VPS13B)	XP_005250858.1:p.Val3980Met
XM_011516848.1:c.11935G>A (VPS13B)	XP_011515150.1:p.Val3979Met
XM_011516849.1:c.11860G>A (VPS13B)	XP_011515151.1:p.Val3954Met
XM_011516850.1:c.11560G>A (VPS13B)	XP_011515152.1:p.Val3854Met
XM_011516851.1:c.8824G>A (VPS13B)	XP_011515153.1:p.Val2942Met
XM_011516852.1:c.8824G>A (VPS13B)	XP_011515154.1:p.Val2942Met
XM_011516854.1:c.7717G>A (VPS13B)	XP_011515156.1:p.Val2573Met
XM_005250800.3:c.11938G>A (VPS13B)	XP_005250857.1:p.Val3980Met
XM_005250801.5:c.11938G>A (VPS13B)	XP_005250858.1:p.Val3980Met
XM_011516848.2:c.11935G>A (VPS13B)	XP_011515150.1:p.Val3979Met
XM_011516849.2:c.11860G>A (VPS13B)	XP_011515151.1:p.Val3954Met
XM_011516850.2:c.11560G>A (VPS13B)	XP_011515152.1:p.Val3854Met
XM_011516851.2:c.8824G>A (VPS13B)	XP_011515153.1:p.Val2942Met
XM_011516852.2:c.8824G>A (VPS13B)	XP_011515154.1:p.Val2942Met
XM_011516854.2:c.7717G>A (VPS13B)	XP_011515156.1:p.Val2573Met
XM_017013109.1:c.11743G>A (VPS13B)	XP_016868598.1:p.Val3915Met
XM_017013111.1:c.8824G>A (VPS13B)	XP_016868600.1:p.Val2942Met
XM_017013112.1:c.7495G>A (VPS13B)	XP_016868601.1:p.Val2499Met
XM_024447074.1:c.10723G>A (VPS13B)	XP_024302842.1:p.Val3575Met
NM_017890.5:c.11938G>A (VPS13B) MANE Plus Clinical	NP_060360.3:p.Val3980Met
NM_152564.5:c.11863G>A (VPS13B) MANE Select	NP_689777.3:p.Val3955Met