Canonical Allele Identifier: CA2688072892

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs539011642
• gnomAD v4: 8-99875784-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875784A>C , CM000670.2:g.99875784A>C	GRCh38
NC_000008.10:g.100888012A>C , CM000670.1:g.100888012A>C	GRCh37
NC_000008.9:g.100957188A>C	NCBI36
NG_007098.2:g.867519A>C , LRG_351:g.867519A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1841A>C (VPS13B)	ENSP00000507923.1:n.*1841A>C
ENST00000682358.1:n.12817A>C (VPS13B)
ENST00000683334.1:c.*7869A>C (VPS13B)	ENSP00000507369.1:n.*7869A>C
ENST00000357162.7:c.*118A>C (VPS13B) MANE Select	ENSP00000349685.2:n.*118A>C
ENST00000358544.7:c.*118A>C (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*118A>C
ENST00000357162.6:c.*118A>C (VPS13B)	ENSP00000349685.2:n.*118A>C
ENST00000358544.6:c.*118A>C (VPS13B)	ENSP00000351346.2:n.*118A>C
ENST00000493587.1:n.1689A>C (VPS13B)
ENST00000520517.5:c.*142-692T>G (COX6C)	ENSP00000429991.1:n.*142-692T>G
ENST00000522934.5:c.*141+2356T>G (COX6C)	ENSP00000428702.1:n.*141+2356T>G
NM_017890.4:c.*118A>C , LRG_351t1:c.*118A>C (VPS13B)	NP_060360.3:n.*118A>C
NM_152564.4:c.*118A>C , LRG_351t2:c.*118A>C (VPS13B)	NP_689777.3:n.*118A>C
XM_005250800.2:c.*118A>C (VPS13B)	XP_005250857.1:n.*118A>C
XM_005250801.3:c.*118A>C (VPS13B)	XP_005250858.1:n.*118A>C
XM_011516848.1:c.*118A>C (VPS13B)	XP_011515150.1:n.*118A>C
XM_011516849.1:c.*118A>C (VPS13B)	XP_011515151.1:n.*118A>C
XM_011516850.1:c.*118A>C (VPS13B)	XP_011515152.1:n.*118A>C
XM_011516851.1:c.*118A>C (VPS13B)	XP_011515153.1:n.*118A>C
XM_011516852.1:c.*118A>C (VPS13B)	XP_011515154.1:n.*118A>C
XM_011516854.1:c.*118A>C (VPS13B)	XP_011515156.1:n.*118A>C
XM_005250800.3:c.*118A>C (VPS13B)	XP_005250857.1:n.*118A>C
XM_005250801.5:c.*118A>C (VPS13B)	XP_005250858.1:n.*118A>C
XM_011516848.2:c.*118A>C (VPS13B)	XP_011515150.1:n.*118A>C
XM_011516849.2:c.*118A>C (VPS13B)	XP_011515151.1:n.*118A>C
XM_011516850.2:c.*118A>C (VPS13B)	XP_011515152.1:n.*118A>C
XM_011516851.2:c.*118A>C (VPS13B)	XP_011515153.1:n.*118A>C
XM_011516852.2:c.*118A>C (VPS13B)	XP_011515154.1:n.*118A>C
XM_011516854.2:c.*118A>C (VPS13B)	XP_011515156.1:n.*118A>C
XM_017013109.1:c.*118A>C (VPS13B)	XP_016868598.1:n.*118A>C
XM_017013111.1:c.*118A>C (VPS13B)	XP_016868600.1:n.*118A>C
XM_017013112.1:c.*118A>C (VPS13B)	XP_016868601.1:n.*118A>C
XM_024447074.1:c.*118A>C (VPS13B)	XP_024302842.1:n.*118A>C
NM_017890.5:c.*118A>C (VPS13B) MANE Plus Clinical	NP_060360.3:n.*118A>C
NM_152564.5:c.*118A>C (VPS13B) MANE Select	NP_689777.3:n.*118A>C