Canonical Allele Identifier: CA4825352

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs769868143
• ExAC: 8:100887730 C / A
• gnomAD v2: 8-100887730-C-A
• gnomAD v4: 8-99875502-C-A
• MyVariant Identifiers: chr8:g.100887730C>A (hg19) ; chr8:g.100887730_100887733delinsACCA (hg19) ; chr8:g.99875502C>A (hg38) ; chr8:g.99875502_99875505delinsACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875502C>A , CM000670.2:g.99875502C>A	GRCh38
NC_000008.10:g.100887730C>A , CM000670.1:g.100887730C>A	GRCh37
NC_000008.9:g.100956906C>A	NCBI36
NG_007098.2:g.867237C>A , LRG_351:g.867237C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1559C>A (VPS13B)	ENSP00000507923.1:n.*1559C>A
ENST00000682358.1:n.12535C>A (VPS13B)
ENST00000683334.1:c.*7587C>A (VPS13B)	ENSP00000507369.1:n.*7587C>A
ENST00000357162.7:c.11830C>A (VPS13B) MANE Select	ENSP00000349685.2:p.Pro3944Thr
ENST00000358544.7:c.11905C>A (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Pro3969Thr
ENST00000357162.6:c.11830C>A (VPS13B)	ENSP00000349685.2:p.Pro3944Thr
ENST00000358544.6:c.11905C>A (VPS13B)	ENSP00000351346.2:p.Pro3969Thr
ENST00000493587.1:n.1407C>A (VPS13B)
ENST00000520517.5:c.*142-410G>T (COX6C)	ENSP00000429991.1:n.*142-410G>T
ENST00000522934.5:c.*142-2209G>T (COX6C)	ENSP00000428702.1:n.*142-2209G>T
NM_017890.4:c.11905C>A , LRG_351t1:c.11905C>A (VPS13B)	NP_060360.3:p.Pro3969Thr
NM_152564.4:c.11830C>A , LRG_351t2:c.11830C>A (VPS13B)	NP_689777.3:p.Pro3944Thr
XM_005250800.2:c.11905C>A (VPS13B)	XP_005250857.1:p.Pro3969Thr
XM_005250801.3:c.11905C>A (VPS13B)	XP_005250858.1:p.Pro3969Thr
XM_011516848.1:c.11902C>A (VPS13B)	XP_011515150.1:p.Pro3968Thr
XM_011516849.1:c.11827C>A (VPS13B)	XP_011515151.1:p.Pro3943Thr
XM_011516850.1:c.11527C>A (VPS13B)	XP_011515152.1:p.Pro3843Thr
XM_011516851.1:c.8791C>A (VPS13B)	XP_011515153.1:p.Pro2931Thr
XM_011516852.1:c.8791C>A (VPS13B)	XP_011515154.1:p.Pro2931Thr
XM_011516854.1:c.7684C>A (VPS13B)	XP_011515156.1:p.Pro2562Thr
XM_005250800.3:c.11905C>A (VPS13B)	XP_005250857.1:p.Pro3969Thr
XM_005250801.5:c.11905C>A (VPS13B)	XP_005250858.1:p.Pro3969Thr
XM_011516848.2:c.11902C>A (VPS13B)	XP_011515150.1:p.Pro3968Thr
XM_011516849.2:c.11827C>A (VPS13B)	XP_011515151.1:p.Pro3943Thr
XM_011516850.2:c.11527C>A (VPS13B)	XP_011515152.1:p.Pro3843Thr
XM_011516851.2:c.8791C>A (VPS13B)	XP_011515153.1:p.Pro2931Thr
XM_011516852.2:c.8791C>A (VPS13B)	XP_011515154.1:p.Pro2931Thr
XM_011516854.2:c.7684C>A (VPS13B)	XP_011515156.1:p.Pro2562Thr
XM_017013109.1:c.11710C>A (VPS13B)	XP_016868598.1:p.Pro3904Thr
XM_017013111.1:c.8791C>A (VPS13B)	XP_016868600.1:p.Pro2931Thr
XM_017013112.1:c.7462C>A (VPS13B)	XP_016868601.1:p.Pro2488Thr
XM_024447074.1:c.10690C>A (VPS13B)	XP_024302842.1:p.Pro3564Thr
NM_017890.5:c.11905C>A (VPS13B) MANE Plus Clinical	NP_060360.3:p.Pro3969Thr
NM_152564.5:c.11830C>A (VPS13B) MANE Select	NP_689777.3:p.Pro3944Thr