Canonical Allele Identifier: CA371795794

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs1817659583
• gnomAD v3: 8-99875533-C-G
• gnomAD v4: 8-99875533-C-G
• MyVariant Identifiers: chr8:g.100887761C>G (hg19) ; chr8:g.99875533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875533C>G , CM000670.2:g.99875533C>G	GRCh38
NC_000008.10:g.100887761C>G , CM000670.1:g.100887761C>G	GRCh37
NC_000008.9:g.100956937C>G	NCBI36
NG_007098.2:g.867268C>G , LRG_351:g.867268C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1590C>G (VPS13B)	ENSP00000507923.1:n.*1590C>G
ENST00000682358.1:n.12566C>G (VPS13B)
ENST00000683334.1:c.*7618C>G (VPS13B)	ENSP00000507369.1:n.*7618C>G
ENST00000357162.7:c.11861C>G (VPS13B) MANE Select	ENSP00000349685.2:p.Pro3954Arg
ENST00000358544.7:c.11936C>G (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Pro3979Arg
ENST00000357162.6:c.11861C>G (VPS13B)	ENSP00000349685.2:p.Pro3954Arg
ENST00000358544.6:c.11936C>G (VPS13B)	ENSP00000351346.2:p.Pro3979Arg
ENST00000493587.1:n.1438C>G (VPS13B)
ENST00000520517.5:c.*142-441G>C (COX6C)	ENSP00000429991.1:n.*142-441G>C
ENST00000522934.5:c.*142-2240G>C (COX6C)	ENSP00000428702.1:n.*142-2240G>C
NM_017890.4:c.11936C>G , LRG_351t1:c.11936C>G (VPS13B)	NP_060360.3:p.Pro3979Arg
NM_152564.4:c.11861C>G , LRG_351t2:c.11861C>G (VPS13B)	NP_689777.3:p.Pro3954Arg
XM_005250800.2:c.11936C>G (VPS13B)	XP_005250857.1:p.Pro3979Arg
XM_005250801.3:c.11936C>G (VPS13B)	XP_005250858.1:p.Pro3979Arg
XM_011516848.1:c.11933C>G (VPS13B)	XP_011515150.1:p.Pro3978Arg
XM_011516849.1:c.11858C>G (VPS13B)	XP_011515151.1:p.Pro3953Arg
XM_011516850.1:c.11558C>G (VPS13B)	XP_011515152.1:p.Pro3853Arg
XM_011516851.1:c.8822C>G (VPS13B)	XP_011515153.1:p.Pro2941Arg
XM_011516852.1:c.8822C>G (VPS13B)	XP_011515154.1:p.Pro2941Arg
XM_011516854.1:c.7715C>G (VPS13B)	XP_011515156.1:p.Pro2572Arg
XM_005250800.3:c.11936C>G (VPS13B)	XP_005250857.1:p.Pro3979Arg
XM_005250801.5:c.11936C>G (VPS13B)	XP_005250858.1:p.Pro3979Arg
XM_011516848.2:c.11933C>G (VPS13B)	XP_011515150.1:p.Pro3978Arg
XM_011516849.2:c.11858C>G (VPS13B)	XP_011515151.1:p.Pro3953Arg
XM_011516850.2:c.11558C>G (VPS13B)	XP_011515152.1:p.Pro3853Arg
XM_011516851.2:c.8822C>G (VPS13B)	XP_011515153.1:p.Pro2941Arg
XM_011516852.2:c.8822C>G (VPS13B)	XP_011515154.1:p.Pro2941Arg
XM_011516854.2:c.7715C>G (VPS13B)	XP_011515156.1:p.Pro2572Arg
XM_017013109.1:c.11741C>G (VPS13B)	XP_016868598.1:p.Pro3914Arg
XM_017013111.1:c.8822C>G (VPS13B)	XP_016868600.1:p.Pro2941Arg
XM_017013112.1:c.7493C>G (VPS13B)	XP_016868601.1:p.Pro2498Arg
XM_024447074.1:c.10721C>G (VPS13B)	XP_024302842.1:p.Pro3574Arg
NM_017890.5:c.11936C>G (VPS13B) MANE Plus Clinical	NP_060360.3:p.Pro3979Arg
NM_152564.5:c.11861C>G (VPS13B) MANE Select	NP_689777.3:p.Pro3954Arg