Canonical Allele Identifier: CA371790308
Gene: VPS13B HGNC NCBI

Linked Data

gnomAD v4: 8-99861808-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861808A>G , CM000670.2:g.99861808A>G GRCh38
NC_000008.10:g.100874036A>G , CM000670.1:g.100874036A>G GRCh37
NC_000008.9:g.100943212A>G NCBI36
NG_007098.2:g.853543A>G , LRG_351:g.853543A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*246A>G ENSP00000507923.1:n.*246A>G
ENST00000682358.1:n.11222A>G
ENST00000683334.1:c.*6834A>G ENSP00000507369.1:n.*6834A>G
ENST00000357162.7:c.11077A>G MANE Select ENSP00000349685.2:p.Ser3693Gly
ENST00000358544.7:c.11152A>G MANE Plus Clinical ENSP00000351346.2:p.Ser3718Gly
ENST00000357162.6:c.11077A>G ENSP00000349685.2:p.Ser3693Gly
ENST00000358544.6:c.11152A>G ENSP00000351346.2:p.Ser3718Gly
NM_017890.4:c.11152A>G , LRG_351t1:c.11152A>G NP_060360.3:p.Ser3718Gly
NM_152564.4:c.11077A>G , LRG_351t2:c.11077A>G NP_689777.3:p.Ser3693Gly
XM_005250800.2:c.11152A>G XP_005250857.1:p.Ser3718Gly
XM_005250801.3:c.11152A>G XP_005250858.1:p.Ser3718Gly
XM_011516848.1:c.11149A>G XP_011515150.1:p.Ser3717Gly
XM_011516849.1:c.11074A>G XP_011515151.1:p.Ser3692Gly
XM_011516850.1:c.10774A>G XP_011515152.1:p.Ser3592Gly
XM_011516851.1:c.8038A>G XP_011515153.1:p.Ser2680Gly
XM_011516852.1:c.8038A>G XP_011515154.1:p.Ser2680Gly
XM_011516854.1:c.6931A>G XP_011515156.1:p.Ser2311Gly
XM_005250800.3:c.11152A>G XP_005250857.1:p.Ser3718Gly
XM_005250801.5:c.11152A>G XP_005250858.1:p.Ser3718Gly
XM_011516848.2:c.11149A>G XP_011515150.1:p.Ser3717Gly
XM_011516849.2:c.11074A>G XP_011515151.1:p.Ser3692Gly
XM_011516850.2:c.10774A>G XP_011515152.1:p.Ser3592Gly
XM_011516851.2:c.8038A>G XP_011515153.1:p.Ser2680Gly
XM_011516852.2:c.8038A>G XP_011515154.1:p.Ser2680Gly
XM_011516854.2:c.6931A>G XP_011515156.1:p.Ser2311Gly
XM_017013109.1:c.10957A>G XP_016868598.1:p.Ser3653Gly
XM_017013111.1:c.8038A>G XP_016868600.1:p.Ser2680Gly
XM_017013112.1:c.6709A>G XP_016868601.1:p.Ser2237Gly
XM_024447074.1:c.9937A>G XP_024302842.1:p.Ser3313Gly
NM_017890.5:c.11152A>G MANE Plus Clinical NP_060360.3:p.Ser3718Gly
NM_152564.5:c.11077A>G MANE Select NP_689777.3:p.Ser3693Gly