Canonical Allele Identifier: CA371795673

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887733A>G (hg19) ; chr8:g.99875505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875505A>G , CM000670.2:g.99875505A>G	GRCh38
NC_000008.10:g.100887733A>G , CM000670.1:g.100887733A>G	GRCh37
NC_000008.9:g.100956909A>G	NCBI36
NG_007098.2:g.867240A>G , LRG_351:g.867240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1562A>G (VPS13B)	ENSP00000507923.1:n.*1562A>G
ENST00000682358.1:n.12538A>G (VPS13B)
ENST00000683334.1:c.*7590A>G (VPS13B)	ENSP00000507369.1:n.*7590A>G
ENST00000357162.7:c.11833A>G (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3945Gly
ENST00000358544.7:c.11908A>G (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3970Gly
ENST00000357162.6:c.11833A>G (VPS13B)	ENSP00000349685.2:p.Ser3945Gly
ENST00000358544.6:c.11908A>G (VPS13B)	ENSP00000351346.2:p.Ser3970Gly
ENST00000493587.1:n.1410A>G (VPS13B)
ENST00000520517.5:c.*142-413T>C (COX6C)	ENSP00000429991.1:n.*142-413T>C
ENST00000522934.5:c.*142-2212T>C (COX6C)	ENSP00000428702.1:n.*142-2212T>C
NM_017890.4:c.11908A>G , LRG_351t1:c.11908A>G (VPS13B)	NP_060360.3:p.Ser3970Gly
NM_152564.4:c.11833A>G , LRG_351t2:c.11833A>G (VPS13B)	NP_689777.3:p.Ser3945Gly
XM_005250800.2:c.11908A>G (VPS13B)	XP_005250857.1:p.Ser3970Gly
XM_005250801.3:c.11908A>G (VPS13B)	XP_005250858.1:p.Ser3970Gly
XM_011516848.1:c.11905A>G (VPS13B)	XP_011515150.1:p.Ser3969Gly
XM_011516849.1:c.11830A>G (VPS13B)	XP_011515151.1:p.Ser3944Gly
XM_011516850.1:c.11530A>G (VPS13B)	XP_011515152.1:p.Ser3844Gly
XM_011516851.1:c.8794A>G (VPS13B)	XP_011515153.1:p.Ser2932Gly
XM_011516852.1:c.8794A>G (VPS13B)	XP_011515154.1:p.Ser2932Gly
XM_011516854.1:c.7687A>G (VPS13B)	XP_011515156.1:p.Ser2563Gly
XM_005250800.3:c.11908A>G (VPS13B)	XP_005250857.1:p.Ser3970Gly
XM_005250801.5:c.11908A>G (VPS13B)	XP_005250858.1:p.Ser3970Gly
XM_011516848.2:c.11905A>G (VPS13B)	XP_011515150.1:p.Ser3969Gly
XM_011516849.2:c.11830A>G (VPS13B)	XP_011515151.1:p.Ser3944Gly
XM_011516850.2:c.11530A>G (VPS13B)	XP_011515152.1:p.Ser3844Gly
XM_011516851.2:c.8794A>G (VPS13B)	XP_011515153.1:p.Ser2932Gly
XM_011516852.2:c.8794A>G (VPS13B)	XP_011515154.1:p.Ser2932Gly
XM_011516854.2:c.7687A>G (VPS13B)	XP_011515156.1:p.Ser2563Gly
XM_017013109.1:c.11713A>G (VPS13B)	XP_016868598.1:p.Ser3905Gly
XM_017013111.1:c.8794A>G (VPS13B)	XP_016868600.1:p.Ser2932Gly
XM_017013112.1:c.7465A>G (VPS13B)	XP_016868601.1:p.Ser2489Gly
XM_024447074.1:c.10693A>G (VPS13B)	XP_024302842.1:p.Ser3565Gly
NM_017890.5:c.11908A>G (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3970Gly
NM_152564.5:c.11833A>G (VPS13B) MANE Select	NP_689777.3:p.Ser3945Gly