Canonical Allele Identifier: CA371795768

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 3021648
• ClinVar RCV Id: RCV003880231
• MyVariant Identifiers: chr8:g.100887755C>G (hg19) ; chr8:g.99875527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875527C>G , CM000670.2:g.99875527C>G	GRCh38
NC_000008.10:g.100887755C>G , CM000670.1:g.100887755C>G	GRCh37
NC_000008.9:g.100956931C>G	NCBI36
NG_007098.2:g.867262C>G , LRG_351:g.867262C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1584C>G (VPS13B)	ENSP00000507923.1:n.*1584C>G
ENST00000682358.1:n.12560C>G (VPS13B)
ENST00000683334.1:c.*7612C>G (VPS13B)	ENSP00000507369.1:n.*7612C>G
ENST00000357162.7:c.11855C>G (VPS13B) MANE Select	ENSP00000349685.2:p.Pro3952Arg
ENST00000358544.7:c.11930C>G (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Pro3977Arg
ENST00000357162.6:c.11855C>G (VPS13B)	ENSP00000349685.2:p.Pro3952Arg
ENST00000358544.6:c.11930C>G (VPS13B)	ENSP00000351346.2:p.Pro3977Arg
ENST00000493587.1:n.1432C>G (VPS13B)
ENST00000520517.5:c.*142-435G>C (COX6C)	ENSP00000429991.1:n.*142-435G>C
ENST00000522934.5:c.*142-2234G>C (COX6C)	ENSP00000428702.1:n.*142-2234G>C
NM_017890.4:c.11930C>G , LRG_351t1:c.11930C>G (VPS13B)	NP_060360.3:p.Pro3977Arg
NM_152564.4:c.11855C>G , LRG_351t2:c.11855C>G (VPS13B)	NP_689777.3:p.Pro3952Arg
XM_005250800.2:c.11930C>G (VPS13B)	XP_005250857.1:p.Pro3977Arg
XM_005250801.3:c.11930C>G (VPS13B)	XP_005250858.1:p.Pro3977Arg
XM_011516848.1:c.11927C>G (VPS13B)	XP_011515150.1:p.Pro3976Arg
XM_011516849.1:c.11852C>G (VPS13B)	XP_011515151.1:p.Pro3951Arg
XM_011516850.1:c.11552C>G (VPS13B)	XP_011515152.1:p.Pro3851Arg
XM_011516851.1:c.8816C>G (VPS13B)	XP_011515153.1:p.Pro2939Arg
XM_011516852.1:c.8816C>G (VPS13B)	XP_011515154.1:p.Pro2939Arg
XM_011516854.1:c.7709C>G (VPS13B)	XP_011515156.1:p.Pro2570Arg
XM_005250800.3:c.11930C>G (VPS13B)	XP_005250857.1:p.Pro3977Arg
XM_005250801.5:c.11930C>G (VPS13B)	XP_005250858.1:p.Pro3977Arg
XM_011516848.2:c.11927C>G (VPS13B)	XP_011515150.1:p.Pro3976Arg
XM_011516849.2:c.11852C>G (VPS13B)	XP_011515151.1:p.Pro3951Arg
XM_011516850.2:c.11552C>G (VPS13B)	XP_011515152.1:p.Pro3851Arg
XM_011516851.2:c.8816C>G (VPS13B)	XP_011515153.1:p.Pro2939Arg
XM_011516852.2:c.8816C>G (VPS13B)	XP_011515154.1:p.Pro2939Arg
XM_011516854.2:c.7709C>G (VPS13B)	XP_011515156.1:p.Pro2570Arg
XM_017013109.1:c.11735C>G (VPS13B)	XP_016868598.1:p.Pro3912Arg
XM_017013111.1:c.8816C>G (VPS13B)	XP_016868600.1:p.Pro2939Arg
XM_017013112.1:c.7487C>G (VPS13B)	XP_016868601.1:p.Pro2496Arg
XM_024447074.1:c.10715C>G (VPS13B)	XP_024302842.1:p.Pro3572Arg
NM_017890.5:c.11930C>G (VPS13B) MANE Plus Clinical	NP_060360.3:p.Pro3977Arg
NM_152564.5:c.11855C>G (VPS13B) MANE Select	NP_689777.3:p.Pro3952Arg