Canonical Allele Identifier: CA371875765

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776885-C-A
• MyVariant Identifiers: chr8:g.100789113C>A (hg19) ; chr8:g.99776885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776885C>A , CM000670.2:g.99776885C>A	GRCh38
NC_000008.10:g.100789113C>A , CM000670.1:g.100789113C>A	GRCh37
NC_000008.9:g.100858289C>A	NCBI36
NG_007098.2:g.768620C>A , LRG_351:g.768620C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7433C>A	ENSP00000507923.1:p.Ser2478Tyr
ENST00000682358.1:n.7503C>A
ENST00000683334.1:c.*3115C>A	ENSP00000507369.1:n.*3115C>A
ENST00000357162.7:c.7358C>A MANE Select	ENSP00000349685.2:p.Ser2453Tyr
ENST00000358544.7:c.7433C>A MANE Plus Clinical	ENSP00000351346.2:p.Ser2478Tyr
ENST00000357162.6:c.7358C>A	ENSP00000349685.2:p.Ser2453Tyr
ENST00000358544.6:c.7433C>A	ENSP00000351346.2:p.Ser2478Tyr
ENST00000518569.1:n.378-1797C>A
NM_017890.4:c.7433C>A , LRG_351t1:c.7433C>A	NP_060360.3:p.Ser2478Tyr
NM_152564.4:c.7358C>A , LRG_351t2:c.7358C>A	NP_689777.3:p.Ser2453Tyr
XM_005250800.2:c.7433C>A	XP_005250857.1:p.Ser2478Tyr
XM_005250801.3:c.7433C>A	XP_005250858.1:p.Ser2478Tyr
XM_011516848.1:c.7430C>A	XP_011515150.1:p.Ser2477Tyr
XM_011516849.1:c.7355C>A	XP_011515151.1:p.Ser2452Tyr
XM_011516850.1:c.7055C>A	XP_011515152.1:p.Ser2352Tyr
XM_011516851.1:c.4319C>A	XP_011515153.1:p.Ser1440Tyr
XM_011516852.1:c.4319C>A	XP_011515154.1:p.Ser1440Tyr
XM_011516853.1:c.7433C>A	XP_011515155.1:p.Ser2478Tyr
XM_011516854.1:c.3212C>A	XP_011515156.1:p.Ser1071Tyr
XR_928446.1:n.1830+5593G>T
XM_005250800.3:c.7433C>A	XP_005250857.1:p.Ser2478Tyr
XM_005250801.5:c.7433C>A	XP_005250858.1:p.Ser2478Tyr
XM_011516848.2:c.7430C>A	XP_011515150.1:p.Ser2477Tyr
XM_011516849.2:c.7355C>A	XP_011515151.1:p.Ser2452Tyr
XM_011516850.2:c.7055C>A	XP_011515152.1:p.Ser2352Tyr
XM_011516851.2:c.4319C>A	XP_011515153.1:p.Ser1440Tyr
XM_011516852.2:c.4319C>A	XP_011515154.1:p.Ser1440Tyr
XM_011516853.2:c.7433C>A	XP_011515155.1:p.Ser2478Tyr
XM_011516854.2:c.3212C>A	XP_011515156.1:p.Ser1071Tyr
XM_017013109.1:c.7238C>A	XP_016868598.1:p.Ser2413Tyr
XM_017013111.1:c.4319C>A	XP_016868600.1:p.Ser1440Tyr
XM_017013112.1:c.2990C>A	XP_016868601.1:p.Ser997Tyr
XM_024447074.1:c.6218C>A	XP_024302842.1:p.Ser2073Tyr
NM_017890.5:c.7433C>A MANE Plus Clinical	NP_060360.3:p.Ser2478Tyr
NM_152564.5:c.7358C>A MANE Select	NP_689777.3:p.Ser2453Tyr