Canonical Allele Identifier: CA371784701
Gene: VPS13B HGNC NCBI

Linked Data

gnomAD v4: 8-99835694-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835694A>G , CM000670.2:g.99835694A>G GRCh38
NC_000008.10:g.100847922A>G , CM000670.1:g.100847922A>G GRCh37
NC_000008.9:g.100917098A>G NCBI36
NG_007098.2:g.827429A>G , LRG_351:g.827429A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.9973A>G ENSP00000507923.1:p.Thr3325Ala
ENST00000682358.1:n.10043A>G
ENST00000683334.1:c.*5655A>G ENSP00000507369.1:n.*5655A>G
ENST00000357162.7:c.9898A>G MANE Select ENSP00000349685.2:p.Thr3300Ala
ENST00000358544.7:c.9973A>G MANE Plus Clinical ENSP00000351346.2:p.Thr3325Ala
ENST00000357162.6:c.9898A>G ENSP00000349685.2:p.Thr3300Ala
ENST00000358544.6:c.9973A>G ENSP00000351346.2:p.Thr3325Ala
NM_017890.4:c.9973A>G , LRG_351t1:c.9973A>G NP_060360.3:p.Thr3325Ala
NM_152564.4:c.9898A>G , LRG_351t2:c.9898A>G NP_689777.3:p.Thr3300Ala
XM_005250800.2:c.9973A>G XP_005250857.1:p.Thr3325Ala
XM_005250801.3:c.9973A>G XP_005250858.1:p.Thr3325Ala
XM_011516848.1:c.9970A>G XP_011515150.1:p.Thr3324Ala
XM_011516849.1:c.9895A>G XP_011515151.1:p.Thr3299Ala
XM_011516850.1:c.9595A>G XP_011515152.1:p.Thr3199Ala
XM_011516851.1:c.6859A>G XP_011515153.1:p.Thr2287Ala
XM_011516852.1:c.6859A>G XP_011515154.1:p.Thr2287Ala
XM_011516854.1:c.5752A>G XP_011515156.1:p.Thr1918Ala
XM_005250800.3:c.9973A>G XP_005250857.1:p.Thr3325Ala
XM_005250801.5:c.9973A>G XP_005250858.1:p.Thr3325Ala
XM_011516848.2:c.9970A>G XP_011515150.1:p.Thr3324Ala
XM_011516849.2:c.9895A>G XP_011515151.1:p.Thr3299Ala
XM_011516850.2:c.9595A>G XP_011515152.1:p.Thr3199Ala
XM_011516851.2:c.6859A>G XP_011515153.1:p.Thr2287Ala
XM_011516852.2:c.6859A>G XP_011515154.1:p.Thr2287Ala
XM_011516854.2:c.5752A>G XP_011515156.1:p.Thr1918Ala
XM_017013109.1:c.9778A>G XP_016868598.1:p.Thr3260Ala
XM_017013111.1:c.6859A>G XP_016868600.1:p.Thr2287Ala
XM_017013112.1:c.5530A>G XP_016868601.1:p.Thr1844Ala
XM_024447074.1:c.8758A>G XP_024302842.1:p.Thr2920Ala
NM_017890.5:c.9973A>G MANE Plus Clinical NP_060360.3:p.Thr3325Ala
NM_152564.5:c.9898A>G MANE Select NP_689777.3:p.Thr3300Ala