Canonical Allele Identifier: CA371795777

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 2093660
• ClinVar RCV Id: RCV002996849
• MyVariant Identifiers: chr8:g.100887758G>A (hg19) ; chr8:g.99875530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875530G>A , CM000670.2:g.99875530G>A	GRCh38
NC_000008.10:g.100887758G>A , CM000670.1:g.100887758G>A	GRCh37
NC_000008.9:g.100956934G>A	NCBI36
NG_007098.2:g.867265G>A , LRG_351:g.867265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1587G>A (VPS13B)	ENSP00000507923.1:n.*1587G>A
ENST00000682358.1:n.12563G>A (VPS13B)
ENST00000683334.1:c.*7615G>A (VPS13B)	ENSP00000507369.1:n.*7615G>A
ENST00000357162.7:c.11858G>A (VPS13B) MANE Select	ENSP00000349685.2:p.Cys3953Tyr
ENST00000358544.7:c.11933G>A (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Cys3978Tyr
ENST00000357162.6:c.11858G>A (VPS13B)	ENSP00000349685.2:p.Cys3953Tyr
ENST00000358544.6:c.11933G>A (VPS13B)	ENSP00000351346.2:p.Cys3978Tyr
ENST00000493587.1:n.1435G>A (VPS13B)
ENST00000520517.5:c.*142-438C>T (COX6C)	ENSP00000429991.1:n.*142-438C>T
ENST00000522934.5:c.*142-2237C>T (COX6C)	ENSP00000428702.1:n.*142-2237C>T
NM_017890.4:c.11933G>A , LRG_351t1:c.11933G>A (VPS13B)	NP_060360.3:p.Cys3978Tyr
NM_152564.4:c.11858G>A , LRG_351t2:c.11858G>A (VPS13B)	NP_689777.3:p.Cys3953Tyr
XM_005250800.2:c.11933G>A (VPS13B)	XP_005250857.1:p.Cys3978Tyr
XM_005250801.3:c.11933G>A (VPS13B)	XP_005250858.1:p.Cys3978Tyr
XM_011516848.1:c.11930G>A (VPS13B)	XP_011515150.1:p.Cys3977Tyr
XM_011516849.1:c.11855G>A (VPS13B)	XP_011515151.1:p.Cys3952Tyr
XM_011516850.1:c.11555G>A (VPS13B)	XP_011515152.1:p.Cys3852Tyr
XM_011516851.1:c.8819G>A (VPS13B)	XP_011515153.1:p.Cys2940Tyr
XM_011516852.1:c.8819G>A (VPS13B)	XP_011515154.1:p.Cys2940Tyr
XM_011516854.1:c.7712G>A (VPS13B)	XP_011515156.1:p.Cys2571Tyr
XM_005250800.3:c.11933G>A (VPS13B)	XP_005250857.1:p.Cys3978Tyr
XM_005250801.5:c.11933G>A (VPS13B)	XP_005250858.1:p.Cys3978Tyr
XM_011516848.2:c.11930G>A (VPS13B)	XP_011515150.1:p.Cys3977Tyr
XM_011516849.2:c.11855G>A (VPS13B)	XP_011515151.1:p.Cys3952Tyr
XM_011516850.2:c.11555G>A (VPS13B)	XP_011515152.1:p.Cys3852Tyr
XM_011516851.2:c.8819G>A (VPS13B)	XP_011515153.1:p.Cys2940Tyr
XM_011516852.2:c.8819G>A (VPS13B)	XP_011515154.1:p.Cys2940Tyr
XM_011516854.2:c.7712G>A (VPS13B)	XP_011515156.1:p.Cys2571Tyr
XM_017013109.1:c.11738G>A (VPS13B)	XP_016868598.1:p.Cys3913Tyr
XM_017013111.1:c.8819G>A (VPS13B)	XP_016868600.1:p.Cys2940Tyr
XM_017013112.1:c.7490G>A (VPS13B)	XP_016868601.1:p.Cys2497Tyr
XM_024447074.1:c.10718G>A (VPS13B)	XP_024302842.1:p.Cys3573Tyr
NM_017890.5:c.11933G>A (VPS13B) MANE Plus Clinical	NP_060360.3:p.Cys3978Tyr
NM_152564.5:c.11858G>A (VPS13B) MANE Select	NP_689777.3:p.Cys3953Tyr