Canonical Allele Identifier: CA182335365

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs748915632
• gnomAD v4: 8-99875539-T-A
• MyVariant Identifiers: chr8:g.100887767T>A (hg19) ; chr8:g.99875539T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875539T>A , CM000670.2:g.99875539T>A	GRCh38
NC_000008.10:g.100887767T>A , CM000670.1:g.100887767T>A	GRCh37
NC_000008.9:g.100956943T>A	NCBI36
NG_007098.2:g.867274T>A , LRG_351:g.867274T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1596T>A (VPS13B)	ENSP00000507923.1:n.*1596T>A
ENST00000682358.1:n.12572T>A (VPS13B)
ENST00000683334.1:c.*7624T>A (VPS13B)	ENSP00000507369.1:n.*7624T>A
ENST00000357162.7:c.11867T>A (VPS13B) MANE Select	ENSP00000349685.2:p.Val3956Glu
ENST00000358544.7:c.11942T>A (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Val3981Glu
ENST00000357162.6:c.11867T>A (VPS13B)	ENSP00000349685.2:p.Val3956Glu
ENST00000358544.6:c.11942T>A (VPS13B)	ENSP00000351346.2:p.Val3981Glu
ENST00000493587.1:n.1444T>A (VPS13B)
ENST00000520517.5:c.*142-447A>T (COX6C)	ENSP00000429991.1:n.*142-447A>T
ENST00000522934.5:c.*142-2246A>T (COX6C)	ENSP00000428702.1:n.*142-2246A>T
NM_017890.4:c.11942T>A , LRG_351t1:c.11942T>A (VPS13B)	NP_060360.3:p.Val3981Glu
NM_152564.4:c.11867T>A , LRG_351t2:c.11867T>A (VPS13B)	NP_689777.3:p.Val3956Glu
XM_005250800.2:c.11942T>A (VPS13B)	XP_005250857.1:p.Val3981Glu
XM_005250801.3:c.11942T>A (VPS13B)	XP_005250858.1:p.Val3981Glu
XM_011516848.1:c.11939T>A (VPS13B)	XP_011515150.1:p.Val3980Glu
XM_011516849.1:c.11864T>A (VPS13B)	XP_011515151.1:p.Val3955Glu
XM_011516850.1:c.11564T>A (VPS13B)	XP_011515152.1:p.Val3855Glu
XM_011516851.1:c.8828T>A (VPS13B)	XP_011515153.1:p.Val2943Glu
XM_011516852.1:c.8828T>A (VPS13B)	XP_011515154.1:p.Val2943Glu
XM_011516854.1:c.7721T>A (VPS13B)	XP_011515156.1:p.Val2574Glu
XM_005250800.3:c.11942T>A (VPS13B)	XP_005250857.1:p.Val3981Glu
XM_005250801.5:c.11942T>A (VPS13B)	XP_005250858.1:p.Val3981Glu
XM_011516848.2:c.11939T>A (VPS13B)	XP_011515150.1:p.Val3980Glu
XM_011516849.2:c.11864T>A (VPS13B)	XP_011515151.1:p.Val3955Glu
XM_011516850.2:c.11564T>A (VPS13B)	XP_011515152.1:p.Val3855Glu
XM_011516851.2:c.8828T>A (VPS13B)	XP_011515153.1:p.Val2943Glu
XM_011516852.2:c.8828T>A (VPS13B)	XP_011515154.1:p.Val2943Glu
XM_011516854.2:c.7721T>A (VPS13B)	XP_011515156.1:p.Val2574Glu
XM_017013109.1:c.11747T>A (VPS13B)	XP_016868598.1:p.Val3916Glu
XM_017013111.1:c.8828T>A (VPS13B)	XP_016868600.1:p.Val2943Glu
XM_017013112.1:c.7499T>A (VPS13B)	XP_016868601.1:p.Val2500Glu
XM_024447074.1:c.10727T>A (VPS13B)	XP_024302842.1:p.Val3576Glu
NM_017890.5:c.11942T>A (VPS13B) MANE Plus Clinical	NP_060360.3:p.Val3981Glu
NM_152564.5:c.11867T>A (VPS13B) MANE Select	NP_689777.3:p.Val3956Glu