Canonical Allele Identifier: CA462458518

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887771T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875543T>G , CM000670.2:g.99875543T>G	GRCh38
NC_000008.10:g.100887771T>G , CM000670.1:g.100887771T>G	GRCh37
NC_000008.9:g.100956947T>G	NCBI36
NG_007098.2:g.867278T>G , LRG_351:g.867278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1600T>G (VPS13B)	ENSP00000507923.1:n.*1600T>G
ENST00000682358.1:n.12576T>G (VPS13B)
ENST00000683334.1:c.*7628T>G (VPS13B)	ENSP00000507369.1:n.*7628T>G
ENST00000357162.7:c.11871T>G (VPS13B) MANE Select	ENSP00000349685.2:p.Ala3957=
ENST00000358544.7:c.11946T>G (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ala3982=
ENST00000357162.6:c.11871T>G (VPS13B)	ENSP00000349685.2:p.Ala3957=
ENST00000358544.6:c.11946T>G (VPS13B)	ENSP00000351346.2:p.Ala3982=
ENST00000493587.1:n.1448T>G (VPS13B)
ENST00000520517.5:c.*142-451A>C (COX6C)	ENSP00000429991.1:n.*142-451A>C
ENST00000522934.5:c.*142-2250A>C (COX6C)	ENSP00000428702.1:n.*142-2250A>C
NM_017890.4:c.11946T>G , LRG_351t1:c.11946T>G (VPS13B)	NP_060360.3:p.Ala3982=
NM_152564.4:c.11871T>G , LRG_351t2:c.11871T>G (VPS13B)	NP_689777.3:p.Ala3957=
XM_005250800.2:c.11946T>G (VPS13B)	XP_005250857.1:p.Ala3982=
XM_005250801.3:c.11946T>G (VPS13B)	XP_005250858.1:p.Ala3982=
XM_011516848.1:c.11943T>G (VPS13B)	XP_011515150.1:p.Ala3981=
XM_011516849.1:c.11868T>G (VPS13B)	XP_011515151.1:p.Ala3956=
XM_011516850.1:c.11568T>G (VPS13B)	XP_011515152.1:p.Ala3856=
XM_011516851.1:c.8832T>G (VPS13B)	XP_011515153.1:p.Ala2944=
XM_011516852.1:c.8832T>G (VPS13B)	XP_011515154.1:p.Ala2944=
XM_011516854.1:c.7725T>G (VPS13B)	XP_011515156.1:p.Ala2575=
XM_005250800.3:c.11946T>G (VPS13B)	XP_005250857.1:p.Ala3982=
XM_005250801.5:c.11946T>G (VPS13B)	XP_005250858.1:p.Ala3982=
XM_011516848.2:c.11943T>G (VPS13B)	XP_011515150.1:p.Ala3981=
XM_011516849.2:c.11868T>G (VPS13B)	XP_011515151.1:p.Ala3956=
XM_011516850.2:c.11568T>G (VPS13B)	XP_011515152.1:p.Ala3856=
XM_011516851.2:c.8832T>G (VPS13B)	XP_011515153.1:p.Ala2944=
XM_011516852.2:c.8832T>G (VPS13B)	XP_011515154.1:p.Ala2944=
XM_011516854.2:c.7725T>G (VPS13B)	XP_011515156.1:p.Ala2575=
XM_017013109.1:c.11751T>G (VPS13B)	XP_016868598.1:p.Ala3917=
XM_017013111.1:c.8832T>G (VPS13B)	XP_016868600.1:p.Ala2944=
XM_017013112.1:c.7503T>G (VPS13B)	XP_016868601.1:p.Ala2501=
XM_024447074.1:c.10731T>G (VPS13B)	XP_024302842.1:p.Ala3577=
NM_017890.5:c.11946T>G (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ala3982=
NM_152564.5:c.11871T>G (VPS13B) MANE Select	NP_689777.3:p.Ala3957=