Canonical Allele Identifier: CA371790467
Gene: VPS13B HGNC NCBI

Linked Data

gnomAD v4: 8-99861843-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861843T>G , CM000670.2:g.99861843T>G GRCh38
NC_000008.10:g.100874071T>G , CM000670.1:g.100874071T>G GRCh37
NC_000008.9:g.100943247T>G NCBI36
NG_007098.2:g.853578T>G , LRG_351:g.853578T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*281T>G ENSP00000507923.1:n.*281T>G
ENST00000682358.1:n.11257T>G
ENST00000683334.1:c.*6869T>G ENSP00000507369.1:n.*6869T>G
ENST00000357162.7:c.11112T>G MANE Select ENSP00000349685.2:p.Asp3704Glu
ENST00000358544.7:c.11187T>G MANE Plus Clinical ENSP00000351346.2:p.Asp3729Glu
ENST00000357162.6:c.11112T>G ENSP00000349685.2:p.Asp3704Glu
ENST00000358544.6:c.11187T>G ENSP00000351346.2:p.Asp3729Glu
NM_017890.4:c.11187T>G , LRG_351t1:c.11187T>G NP_060360.3:p.Asp3729Glu
NM_152564.4:c.11112T>G , LRG_351t2:c.11112T>G NP_689777.3:p.Asp3704Glu
XM_005250800.2:c.11187T>G XP_005250857.1:p.Asp3729Glu
XM_005250801.3:c.11187T>G XP_005250858.1:p.Asp3729Glu
XM_011516848.1:c.11184T>G XP_011515150.1:p.Asp3728Glu
XM_011516849.1:c.11109T>G XP_011515151.1:p.Asp3703Glu
XM_011516850.1:c.10809T>G XP_011515152.1:p.Asp3603Glu
XM_011516851.1:c.8073T>G XP_011515153.1:p.Asp2691Glu
XM_011516852.1:c.8073T>G XP_011515154.1:p.Asp2691Glu
XM_011516854.1:c.6966T>G XP_011515156.1:p.Asp2322Glu
XM_005250800.3:c.11187T>G XP_005250857.1:p.Asp3729Glu
XM_005250801.5:c.11187T>G XP_005250858.1:p.Asp3729Glu
XM_011516848.2:c.11184T>G XP_011515150.1:p.Asp3728Glu
XM_011516849.2:c.11109T>G XP_011515151.1:p.Asp3703Glu
XM_011516850.2:c.10809T>G XP_011515152.1:p.Asp3603Glu
XM_011516851.2:c.8073T>G XP_011515153.1:p.Asp2691Glu
XM_011516852.2:c.8073T>G XP_011515154.1:p.Asp2691Glu
XM_011516854.2:c.6966T>G XP_011515156.1:p.Asp2322Glu
XM_017013109.1:c.10992T>G XP_016868598.1:p.Asp3664Glu
XM_017013111.1:c.8073T>G XP_016868600.1:p.Asp2691Glu
XM_017013112.1:c.6744T>G XP_016868601.1:p.Asp2248Glu
XM_024447074.1:c.9972T>G XP_024302842.1:p.Asp3324Glu
NM_017890.5:c.11187T>G MANE Plus Clinical NP_060360.3:p.Asp3729Glu
NM_152564.5:c.11112T>G MANE Select NP_689777.3:p.Asp3704Glu