Canonical Allele Identifier: CA462338055

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861817-C-A
• MyVariant Identifiers: chr8:g.100874045C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861817C>A , CM000670.2:g.99861817C>A	GRCh38
NC_000008.10:g.100874045C>A , CM000670.1:g.100874045C>A	GRCh37
NC_000008.9:g.100943221C>A	NCBI36
NG_007098.2:g.853552C>A , LRG_351:g.853552C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*255C>A	ENSP00000507923.1:n.*255C>A
ENST00000682358.1:n.11231C>A
ENST00000683334.1:c.*6843C>A	ENSP00000507369.1:n.*6843C>A
ENST00000357162.7:c.11086C>A MANE Select	ENSP00000349685.2:p.Arg3696=
ENST00000358544.7:c.11161C>A MANE Plus Clinical	ENSP00000351346.2:p.Arg3721=
ENST00000357162.6:c.11086C>A	ENSP00000349685.2:p.Arg3696=
ENST00000358544.6:c.11161C>A	ENSP00000351346.2:p.Arg3721=
NM_017890.4:c.11161C>A , LRG_351t1:c.11161C>A	NP_060360.3:p.Arg3721=
NM_152564.4:c.11086C>A , LRG_351t2:c.11086C>A	NP_689777.3:p.Arg3696=
XM_005250800.2:c.11161C>A	XP_005250857.1:p.Arg3721=
XM_005250801.3:c.11161C>A	XP_005250858.1:p.Arg3721=
XM_011516848.1:c.11158C>A	XP_011515150.1:p.Arg3720=
XM_011516849.1:c.11083C>A	XP_011515151.1:p.Arg3695=
XM_011516850.1:c.10783C>A	XP_011515152.1:p.Arg3595=
XM_011516851.1:c.8047C>A	XP_011515153.1:p.Arg2683=
XM_011516852.1:c.8047C>A	XP_011515154.1:p.Arg2683=
XM_011516854.1:c.6940C>A	XP_011515156.1:p.Arg2314=
XM_005250800.3:c.11161C>A	XP_005250857.1:p.Arg3721=
XM_005250801.5:c.11161C>A	XP_005250858.1:p.Arg3721=
XM_011516848.2:c.11158C>A	XP_011515150.1:p.Arg3720=
XM_011516849.2:c.11083C>A	XP_011515151.1:p.Arg3695=
XM_011516850.2:c.10783C>A	XP_011515152.1:p.Arg3595=
XM_011516851.2:c.8047C>A	XP_011515153.1:p.Arg2683=
XM_011516852.2:c.8047C>A	XP_011515154.1:p.Arg2683=
XM_011516854.2:c.6940C>A	XP_011515156.1:p.Arg2314=
XM_017013109.1:c.10966C>A	XP_016868598.1:p.Arg3656=
XM_017013111.1:c.8047C>A	XP_016868600.1:p.Arg2683=
XM_017013112.1:c.6718C>A	XP_016868601.1:p.Arg2240=
XM_024447074.1:c.9946C>A	XP_024302842.1:p.Arg3316=
NM_017890.5:c.11161C>A MANE Plus Clinical	NP_060360.3:p.Arg3721=
NM_152564.5:c.11086C>A MANE Select	NP_689777.3:p.Arg3696=