Canonical Allele Identifier: CA371790648
Gene: VPS13B HGNC NCBI

Linked Data

gnomAD v4: 8-99861887-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861887C>A , CM000670.2:g.99861887C>A GRCh38
NC_000008.10:g.100874115C>A , CM000670.1:g.100874115C>A GRCh37
NC_000008.9:g.100943291C>A NCBI36
NG_007098.2:g.853622C>A , LRG_351:g.853622C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*325C>A ENSP00000507923.1:n.*325C>A
ENST00000682358.1:n.11301C>A
ENST00000683334.1:c.*6913C>A ENSP00000507369.1:n.*6913C>A
ENST00000357162.7:c.11156C>A MANE Select ENSP00000349685.2:p.Pro3719His
ENST00000358544.7:c.11231C>A MANE Plus Clinical ENSP00000351346.2:p.Pro3744His
ENST00000357162.6:c.11156C>A ENSP00000349685.2:p.Pro3719His
ENST00000358544.6:c.11231C>A ENSP00000351346.2:p.Pro3744His
NM_017890.4:c.11231C>A , LRG_351t1:c.11231C>A NP_060360.3:p.Pro3744His
NM_152564.4:c.11156C>A , LRG_351t2:c.11156C>A NP_689777.3:p.Pro3719His
XM_005250800.2:c.11231C>A XP_005250857.1:p.Pro3744His
XM_005250801.3:c.11231C>A XP_005250858.1:p.Pro3744His
XM_011516848.1:c.11228C>A XP_011515150.1:p.Pro3743His
XM_011516849.1:c.11153C>A XP_011515151.1:p.Pro3718His
XM_011516850.1:c.10853C>A XP_011515152.1:p.Pro3618His
XM_011516851.1:c.8117C>A XP_011515153.1:p.Pro2706His
XM_011516852.1:c.8117C>A XP_011515154.1:p.Pro2706His
XM_011516854.1:c.7010C>A XP_011515156.1:p.Pro2337His
XM_005250800.3:c.11231C>A XP_005250857.1:p.Pro3744His
XM_005250801.5:c.11231C>A XP_005250858.1:p.Pro3744His
XM_011516848.2:c.11228C>A XP_011515150.1:p.Pro3743His
XM_011516849.2:c.11153C>A XP_011515151.1:p.Pro3718His
XM_011516850.2:c.10853C>A XP_011515152.1:p.Pro3618His
XM_011516851.2:c.8117C>A XP_011515153.1:p.Pro2706His
XM_011516852.2:c.8117C>A XP_011515154.1:p.Pro2706His
XM_011516854.2:c.7010C>A XP_011515156.1:p.Pro2337His
XM_017013109.1:c.11036C>A XP_016868598.1:p.Pro3679His
XM_017013111.1:c.8117C>A XP_016868600.1:p.Pro2706His
XM_017013112.1:c.6788C>A XP_016868601.1:p.Pro2263His
XM_024447074.1:c.10016C>A XP_024302842.1:p.Pro3339His
NM_017890.5:c.11231C>A MANE Plus Clinical NP_060360.3:p.Pro3744His
NM_152564.5:c.11156C>A MANE Select NP_689777.3:p.Pro3719His