Canonical Allele Identifier: CA371795565
Gene: VPS13B HGNC NCBI
COX6C HGNC NCBI

Linked Data

ClinVar Variation Id: 1482544
ClinVar RCV Id: RCV001995683
dbSNP Id: rs2130990241
gnomAD v4: 8-99875466-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99875466G>A , CM000670.2:g.99875466G>A GRCh38
NC_000008.10:g.100887694G>A , CM000670.1:g.100887694G>A GRCh37
NC_000008.9:g.100956870G>A NCBI36
NG_007098.2:g.867201G>A , LRG_351:g.867201G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*1523G>A (VPS13B) ENSP00000507923.1:n.*1523G>A
ENST00000682358.1:n.12499G>A (VPS13B)
ENST00000683334.1:c.*7551G>A (VPS13B) ENSP00000507369.1:n.*7551G>A
ENST00000357162.7:c.11794G>A (VPS13B) MANE Select ENSP00000349685.2:p.Val3932Met
ENST00000358544.7:c.11869G>A (VPS13B) MANE Plus Clinical ENSP00000351346.2:p.Val3957Met
ENST00000357162.6:c.11794G>A (VPS13B) ENSP00000349685.2:p.Val3932Met
ENST00000358544.6:c.11869G>A (VPS13B) ENSP00000351346.2:p.Val3957Met
ENST00000493587.1:n.1371G>A (VPS13B)
ENST00000520517.5:c.*142-374C>T (COX6C) ENSP00000429991.1:n.*142-374C>T
ENST00000522934.5:c.*142-2173C>T (COX6C) ENSP00000428702.1:n.*142-2173C>T
NM_017890.4:c.11869G>A , LRG_351t1:c.11869G>A (VPS13B) NP_060360.3:p.Val3957Met
NM_152564.4:c.11794G>A , LRG_351t2:c.11794G>A (VPS13B) NP_689777.3:p.Val3932Met
XM_005250800.2:c.11869G>A (VPS13B) XP_005250857.1:p.Val3957Met
XM_005250801.3:c.11869G>A (VPS13B) XP_005250858.1:p.Val3957Met
XM_011516848.1:c.11866G>A (VPS13B) XP_011515150.1:p.Val3956Met
XM_011516849.1:c.11791G>A (VPS13B) XP_011515151.1:p.Val3931Met
XM_011516850.1:c.11491G>A (VPS13B) XP_011515152.1:p.Val3831Met
XM_011516851.1:c.8755G>A (VPS13B) XP_011515153.1:p.Val2919Met
XM_011516852.1:c.8755G>A (VPS13B) XP_011515154.1:p.Val2919Met
XM_011516854.1:c.7648G>A (VPS13B) XP_011515156.1:p.Val2550Met
XM_005250800.3:c.11869G>A (VPS13B) XP_005250857.1:p.Val3957Met
XM_005250801.5:c.11869G>A (VPS13B) XP_005250858.1:p.Val3957Met
XM_011516848.2:c.11866G>A (VPS13B) XP_011515150.1:p.Val3956Met
XM_011516849.2:c.11791G>A (VPS13B) XP_011515151.1:p.Val3931Met
XM_011516850.2:c.11491G>A (VPS13B) XP_011515152.1:p.Val3831Met
XM_011516851.2:c.8755G>A (VPS13B) XP_011515153.1:p.Val2919Met
XM_011516852.2:c.8755G>A (VPS13B) XP_011515154.1:p.Val2919Met
XM_011516854.2:c.7648G>A (VPS13B) XP_011515156.1:p.Val2550Met
XM_017013109.1:c.11674G>A (VPS13B) XP_016868598.1:p.Val3892Met
XM_017013111.1:c.8755G>A (VPS13B) XP_016868600.1:p.Val2919Met
XM_017013112.1:c.7426G>A (VPS13B) XP_016868601.1:p.Val2476Met
XM_024447074.1:c.10654G>A (VPS13B) XP_024302842.1:p.Val3552Met
NM_017890.5:c.11869G>A (VPS13B) MANE Plus Clinical NP_060360.3:p.Val3957Met
NM_152564.5:c.11794G>A (VPS13B) MANE Select NP_689777.3:p.Val3932Met