Canonical Allele Identifier: CA4825337

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 970264
• ClinVar RCV Id: RCV001245808
• dbSNP Id: rs754404502
• ExAC: 8:100887650 A / T
• gnomAD v2: 8-100887650-A-T
• gnomAD v3: 8-99875422-A-T
• gnomAD v4: 8-99875422-A-T
• MyVariant Identifiers: chr8:g.100887650A>T (hg19) ; chr8:g.99875422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875422A>T , CM000670.2:g.99875422A>T	GRCh38
NC_000008.10:g.100887650A>T , CM000670.1:g.100887650A>T	GRCh37
NC_000008.9:g.100956826A>T	NCBI36
NG_007098.2:g.867157A>T , LRG_351:g.867157A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1479A>T (VPS13B)	ENSP00000507923.1:n.*1479A>T
ENST00000682358.1:n.12455A>T (VPS13B)
ENST00000683334.1:c.*7507A>T (VPS13B)	ENSP00000507369.1:n.*7507A>T
ENST00000357162.7:c.11750A>T (VPS13B) MANE Select	ENSP00000349685.2:p.Asp3917Val
ENST00000358544.7:c.11825A>T (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Asp3942Val
ENST00000357162.6:c.11750A>T (VPS13B)	ENSP00000349685.2:p.Asp3917Val
ENST00000358544.6:c.11825A>T (VPS13B)	ENSP00000351346.2:p.Asp3942Val
ENST00000493587.1:n.1327A>T (VPS13B)
ENST00000520517.5:c.*142-330T>A (COX6C)	ENSP00000429991.1:n.*142-330T>A
ENST00000522934.5:c.*142-2129T>A (COX6C)	ENSP00000428702.1:n.*142-2129T>A
NM_017890.4:c.11825A>T , LRG_351t1:c.11825A>T (VPS13B)	NP_060360.3:p.Asp3942Val
NM_152564.4:c.11750A>T , LRG_351t2:c.11750A>T (VPS13B)	NP_689777.3:p.Asp3917Val
XM_005250800.2:c.11825A>T (VPS13B)	XP_005250857.1:p.Asp3942Val
XM_005250801.3:c.11825A>T (VPS13B)	XP_005250858.1:p.Asp3942Val
XM_011516848.1:c.11822A>T (VPS13B)	XP_011515150.1:p.Asp3941Val
XM_011516849.1:c.11747A>T (VPS13B)	XP_011515151.1:p.Asp3916Val
XM_011516850.1:c.11447A>T (VPS13B)	XP_011515152.1:p.Asp3816Val
XM_011516851.1:c.8711A>T (VPS13B)	XP_011515153.1:p.Asp2904Val
XM_011516852.1:c.8711A>T (VPS13B)	XP_011515154.1:p.Asp2904Val
XM_011516854.1:c.7604A>T (VPS13B)	XP_011515156.1:p.Asp2535Val
XM_005250800.3:c.11825A>T (VPS13B)	XP_005250857.1:p.Asp3942Val
XM_005250801.5:c.11825A>T (VPS13B)	XP_005250858.1:p.Asp3942Val
XM_011516848.2:c.11822A>T (VPS13B)	XP_011515150.1:p.Asp3941Val
XM_011516849.2:c.11747A>T (VPS13B)	XP_011515151.1:p.Asp3916Val
XM_011516850.2:c.11447A>T (VPS13B)	XP_011515152.1:p.Asp3816Val
XM_011516851.2:c.8711A>T (VPS13B)	XP_011515153.1:p.Asp2904Val
XM_011516852.2:c.8711A>T (VPS13B)	XP_011515154.1:p.Asp2904Val
XM_011516854.2:c.7604A>T (VPS13B)	XP_011515156.1:p.Asp2535Val
XM_017013109.1:c.11630A>T (VPS13B)	XP_016868598.1:p.Asp3877Val
XM_017013111.1:c.8711A>T (VPS13B)	XP_016868600.1:p.Asp2904Val
XM_017013112.1:c.7382A>T (VPS13B)	XP_016868601.1:p.Asp2461Val
XM_024447074.1:c.10610A>T (VPS13B)	XP_024302842.1:p.Asp3537Val
NM_017890.5:c.11825A>T (VPS13B) MANE Plus Clinical	NP_060360.3:p.Asp3942Val
NM_152564.5:c.11750A>T (VPS13B) MANE Select	NP_689777.3:p.Asp3917Val