Canonical Allele Identifier: CA371795719

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs1208908786
• gnomAD v2: 8-100887743-C-T
• gnomAD v4: 8-99875515-C-T
• MyVariant Identifiers: chr8:g.100887743C>T (hg19) ; chr8:g.99875515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875515C>T , CM000670.2:g.99875515C>T	GRCh38
NC_000008.10:g.100887743C>T , CM000670.1:g.100887743C>T	GRCh37
NC_000008.9:g.100956919C>T	NCBI36
NG_007098.2:g.867250C>T , LRG_351:g.867250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1572C>T (VPS13B)	ENSP00000507923.1:n.*1572C>T
ENST00000682358.1:n.12548C>T (VPS13B)
ENST00000683334.1:c.*7600C>T (VPS13B)	ENSP00000507369.1:n.*7600C>T
ENST00000357162.7:c.11843C>T (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3948Phe
ENST00000358544.7:c.11918C>T (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3973Phe
ENST00000357162.6:c.11843C>T (VPS13B)	ENSP00000349685.2:p.Ser3948Phe
ENST00000358544.6:c.11918C>T (VPS13B)	ENSP00000351346.2:p.Ser3973Phe
ENST00000493587.1:n.1420C>T (VPS13B)
ENST00000520517.5:c.*142-423G>A (COX6C)	ENSP00000429991.1:n.*142-423G>A
ENST00000522934.5:c.*142-2222G>A (COX6C)	ENSP00000428702.1:n.*142-2222G>A
NM_017890.4:c.11918C>T , LRG_351t1:c.11918C>T (VPS13B)	NP_060360.3:p.Ser3973Phe
NM_152564.4:c.11843C>T , LRG_351t2:c.11843C>T (VPS13B)	NP_689777.3:p.Ser3948Phe
XM_005250800.2:c.11918C>T (VPS13B)	XP_005250857.1:p.Ser3973Phe
XM_005250801.3:c.11918C>T (VPS13B)	XP_005250858.1:p.Ser3973Phe
XM_011516848.1:c.11915C>T (VPS13B)	XP_011515150.1:p.Ser3972Phe
XM_011516849.1:c.11840C>T (VPS13B)	XP_011515151.1:p.Ser3947Phe
XM_011516850.1:c.11540C>T (VPS13B)	XP_011515152.1:p.Ser3847Phe
XM_011516851.1:c.8804C>T (VPS13B)	XP_011515153.1:p.Ser2935Phe
XM_011516852.1:c.8804C>T (VPS13B)	XP_011515154.1:p.Ser2935Phe
XM_011516854.1:c.7697C>T (VPS13B)	XP_011515156.1:p.Ser2566Phe
XM_005250800.3:c.11918C>T (VPS13B)	XP_005250857.1:p.Ser3973Phe
XM_005250801.5:c.11918C>T (VPS13B)	XP_005250858.1:p.Ser3973Phe
XM_011516848.2:c.11915C>T (VPS13B)	XP_011515150.1:p.Ser3972Phe
XM_011516849.2:c.11840C>T (VPS13B)	XP_011515151.1:p.Ser3947Phe
XM_011516850.2:c.11540C>T (VPS13B)	XP_011515152.1:p.Ser3847Phe
XM_011516851.2:c.8804C>T (VPS13B)	XP_011515153.1:p.Ser2935Phe
XM_011516852.2:c.8804C>T (VPS13B)	XP_011515154.1:p.Ser2935Phe
XM_011516854.2:c.7697C>T (VPS13B)	XP_011515156.1:p.Ser2566Phe
XM_017013109.1:c.11723C>T (VPS13B)	XP_016868598.1:p.Ser3908Phe
XM_017013111.1:c.8804C>T (VPS13B)	XP_016868600.1:p.Ser2935Phe
XM_017013112.1:c.7475C>T (VPS13B)	XP_016868601.1:p.Ser2492Phe
XM_024447074.1:c.10703C>T (VPS13B)	XP_024302842.1:p.Ser3568Phe
NM_017890.5:c.11918C>T (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3973Phe
NM_152564.5:c.11843C>T (VPS13B) MANE Select	NP_689777.3:p.Ser3948Phe