Canonical Allele Identifier: CA371782852
Gene: VPS13B HGNC NCBI

Linked Data

gnomAD v4: 8-99835306-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835306A>G , CM000670.2:g.99835306A>G GRCh38
NC_000008.10:g.100847534A>G , CM000670.1:g.100847534A>G GRCh37
NC_000008.9:g.100916710A>G NCBI36
NG_007098.2:g.827041A>G , LRG_351:g.827041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.9799A>G ENSP00000507923.1:p.Ile3267Val
ENST00000682358.1:n.9869A>G
ENST00000683334.1:c.*5481A>G ENSP00000507369.1:n.*5481A>G
ENST00000357162.7:c.9724A>G MANE Select ENSP00000349685.2:p.Ile3242Val
ENST00000358544.7:c.9799A>G MANE Plus Clinical ENSP00000351346.2:p.Ile3267Val
ENST00000357162.6:c.9724A>G ENSP00000349685.2:p.Ile3242Val
ENST00000358544.6:c.9799A>G ENSP00000351346.2:p.Ile3267Val
NM_017890.4:c.9799A>G , LRG_351t1:c.9799A>G NP_060360.3:p.Ile3267Val
NM_152564.4:c.9724A>G , LRG_351t2:c.9724A>G NP_689777.3:p.Ile3242Val
XM_005250800.2:c.9799A>G XP_005250857.1:p.Ile3267Val
XM_005250801.3:c.9799A>G XP_005250858.1:p.Ile3267Val
XM_011516848.1:c.9796A>G XP_011515150.1:p.Ile3266Val
XM_011516849.1:c.9721A>G XP_011515151.1:p.Ile3241Val
XM_011516850.1:c.9421A>G XP_011515152.1:p.Ile3141Val
XM_011516851.1:c.6685A>G XP_011515153.1:p.Ile2229Val
XM_011516852.1:c.6685A>G XP_011515154.1:p.Ile2229Val
XM_011516854.1:c.5578A>G XP_011515156.1:p.Ile1860Val
XM_005250800.3:c.9799A>G XP_005250857.1:p.Ile3267Val
XM_005250801.5:c.9799A>G XP_005250858.1:p.Ile3267Val
XM_011516848.2:c.9796A>G XP_011515150.1:p.Ile3266Val
XM_011516849.2:c.9721A>G XP_011515151.1:p.Ile3241Val
XM_011516850.2:c.9421A>G XP_011515152.1:p.Ile3141Val
XM_011516851.2:c.6685A>G XP_011515153.1:p.Ile2229Val
XM_011516852.2:c.6685A>G XP_011515154.1:p.Ile2229Val
XM_011516854.2:c.5578A>G XP_011515156.1:p.Ile1860Val
XM_017013109.1:c.9604A>G XP_016868598.1:p.Ile3202Val
XM_017013111.1:c.6685A>G XP_016868600.1:p.Ile2229Val
XM_017013112.1:c.5356A>G XP_016868601.1:p.Ile1786Val
XM_024447074.1:c.8584A>G XP_024302842.1:p.Ile2862Val
NM_017890.5:c.9799A>G MANE Plus Clinical NP_060360.3:p.Ile3267Val
NM_152564.5:c.9724A>G MANE Select NP_689777.3:p.Ile3242Val