Canonical Allele Identifier: CA371795901

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs1817661431
• gnomAD v3: 8-99875562-A-G
• gnomAD v4: 8-99875562-A-G
• MyVariant Identifiers: chr8:g.100887790A>G (hg19) ; chr8:g.99875562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875562A>G , CM000670.2:g.99875562A>G	GRCh38
NC_000008.10:g.100887790A>G , CM000670.1:g.100887790A>G	GRCh37
NC_000008.9:g.100956966A>G	NCBI36
NG_007098.2:g.867297A>G , LRG_351:g.867297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1619A>G (VPS13B)	ENSP00000507923.1:n.*1619A>G
ENST00000682358.1:n.12595A>G (VPS13B)
ENST00000683334.1:c.*7647A>G (VPS13B)	ENSP00000507369.1:n.*7647A>G
ENST00000357162.7:c.11890A>G (VPS13B) MANE Select	ENSP00000349685.2:p.Thr3964Ala
ENST00000358544.7:c.11965A>G (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Thr3989Ala
ENST00000357162.6:c.11890A>G (VPS13B)	ENSP00000349685.2:p.Thr3964Ala
ENST00000358544.6:c.11965A>G (VPS13B)	ENSP00000351346.2:p.Thr3989Ala
ENST00000493587.1:n.1467A>G (VPS13B)
ENST00000520517.5:c.*142-470T>C (COX6C)	ENSP00000429991.1:n.*142-470T>C
ENST00000522934.5:c.*142-2269T>C (COX6C)	ENSP00000428702.1:n.*142-2269T>C
NM_017890.4:c.11965A>G , LRG_351t1:c.11965A>G (VPS13B)	NP_060360.3:p.Thr3989Ala
NM_152564.4:c.11890A>G , LRG_351t2:c.11890A>G (VPS13B)	NP_689777.3:p.Thr3964Ala
XM_005250800.2:c.11965A>G (VPS13B)	XP_005250857.1:p.Thr3989Ala
XM_005250801.3:c.11965A>G (VPS13B)	XP_005250858.1:p.Thr3989Ala
XM_011516848.1:c.11962A>G (VPS13B)	XP_011515150.1:p.Thr3988Ala
XM_011516849.1:c.11887A>G (VPS13B)	XP_011515151.1:p.Thr3963Ala
XM_011516850.1:c.11587A>G (VPS13B)	XP_011515152.1:p.Thr3863Ala
XM_011516851.1:c.8851A>G (VPS13B)	XP_011515153.1:p.Thr2951Ala
XM_011516852.1:c.8851A>G (VPS13B)	XP_011515154.1:p.Thr2951Ala
XM_011516854.1:c.7744A>G (VPS13B)	XP_011515156.1:p.Thr2582Ala
XM_005250800.3:c.11965A>G (VPS13B)	XP_005250857.1:p.Thr3989Ala
XM_005250801.5:c.11965A>G (VPS13B)	XP_005250858.1:p.Thr3989Ala
XM_011516848.2:c.11962A>G (VPS13B)	XP_011515150.1:p.Thr3988Ala
XM_011516849.2:c.11887A>G (VPS13B)	XP_011515151.1:p.Thr3963Ala
XM_011516850.2:c.11587A>G (VPS13B)	XP_011515152.1:p.Thr3863Ala
XM_011516851.2:c.8851A>G (VPS13B)	XP_011515153.1:p.Thr2951Ala
XM_011516852.2:c.8851A>G (VPS13B)	XP_011515154.1:p.Thr2951Ala
XM_011516854.2:c.7744A>G (VPS13B)	XP_011515156.1:p.Thr2582Ala
XM_017013109.1:c.11770A>G (VPS13B)	XP_016868598.1:p.Thr3924Ala
XM_017013111.1:c.8851A>G (VPS13B)	XP_016868600.1:p.Thr2951Ala
XM_017013112.1:c.7522A>G (VPS13B)	XP_016868601.1:p.Thr2508Ala
XM_024447074.1:c.10750A>G (VPS13B)	XP_024302842.1:p.Thr3584Ala
NM_017890.5:c.11965A>G (VPS13B) MANE Plus Clinical	NP_060360.3:p.Thr3989Ala
NM_152564.5:c.11890A>G (VPS13B) MANE Select	NP_689777.3:p.Thr3964Ala