Canonical Allele Identifier: CA371875562

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776787-G-T
• MyVariant Identifiers: chr8:g.100789015G>T (hg19) ; chr8:g.99776787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776787G>T , CM000670.2:g.99776787G>T	GRCh38
NC_000008.10:g.100789015G>T , CM000670.1:g.100789015G>T	GRCh37
NC_000008.9:g.100858191G>T	NCBI36
NG_007098.2:g.768522G>T , LRG_351:g.768522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7335G>T	ENSP00000507923.1:p.Glu2445Asp
ENST00000682358.1:n.7405G>T
ENST00000683334.1:c.*3017G>T	ENSP00000507369.1:n.*3017G>T
ENST00000357162.7:c.7260G>T MANE Select	ENSP00000349685.2:p.Glu2420Asp
ENST00000358544.7:c.7335G>T MANE Plus Clinical	ENSP00000351346.2:p.Glu2445Asp
ENST00000357162.6:c.7260G>T	ENSP00000349685.2:p.Glu2420Asp
ENST00000358544.6:c.7335G>T	ENSP00000351346.2:p.Glu2445Asp
ENST00000518569.1:n.378-1895G>T
NM_017890.4:c.7335G>T , LRG_351t1:c.7335G>T	NP_060360.3:p.Glu2445Asp
NM_152564.4:c.7260G>T , LRG_351t2:c.7260G>T	NP_689777.3:p.Glu2420Asp
XM_005250800.2:c.7335G>T	XP_005250857.1:p.Glu2445Asp
XM_005250801.3:c.7335G>T	XP_005250858.1:p.Glu2445Asp
XM_011516848.1:c.7332G>T	XP_011515150.1:p.Glu2444Asp
XM_011516849.1:c.7257G>T	XP_011515151.1:p.Glu2419Asp
XM_011516850.1:c.6957G>T	XP_011515152.1:p.Glu2319Asp
XM_011516851.1:c.4221G>T	XP_011515153.1:p.Glu1407Asp
XM_011516852.1:c.4221G>T	XP_011515154.1:p.Glu1407Asp
XM_011516853.1:c.7335G>T	XP_011515155.1:p.Glu2445Asp
XM_011516854.1:c.3114G>T	XP_011515156.1:p.Glu1038Asp
XR_928446.1:n.1830+5691C>A
XM_005250800.3:c.7335G>T	XP_005250857.1:p.Glu2445Asp
XM_005250801.5:c.7335G>T	XP_005250858.1:p.Glu2445Asp
XM_011516848.2:c.7332G>T	XP_011515150.1:p.Glu2444Asp
XM_011516849.2:c.7257G>T	XP_011515151.1:p.Glu2419Asp
XM_011516850.2:c.6957G>T	XP_011515152.1:p.Glu2319Asp
XM_011516851.2:c.4221G>T	XP_011515153.1:p.Glu1407Asp
XM_011516852.2:c.4221G>T	XP_011515154.1:p.Glu1407Asp
XM_011516853.2:c.7335G>T	XP_011515155.1:p.Glu2445Asp
XM_011516854.2:c.3114G>T	XP_011515156.1:p.Glu1038Asp
XM_017013109.1:c.7140G>T	XP_016868598.1:p.Glu2380Asp
XM_017013111.1:c.4221G>T	XP_016868600.1:p.Glu1407Asp
XM_017013112.1:c.2892G>T	XP_016868601.1:p.Glu964Asp
XM_024447074.1:c.6120G>T	XP_024302842.1:p.Glu2040Asp
NM_017890.5:c.7335G>T MANE Plus Clinical	NP_060360.3:p.Glu2445Asp
NM_152564.5:c.7260G>T MANE Select	NP_689777.3:p.Glu2420Asp