Canonical Allele Identifier: CA4825158

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 657513
• ClinVar RCV Id: RCV000814125 ; RCV002433968 ; RCV003396428
• dbSNP Id: rs180177372
• ExAC: 8:100874129 G / A
• gnomAD v2: 8-100874129-G-A
• gnomAD v3: 8-99861901-G-A
• gnomAD v4: 8-99861901-G-A
• MyVariant Identifiers: chr8:g.100874129G>A (hg19) ; chr8:g.99861901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861901G>A , CM000670.2:g.99861901G>A	GRCh38
NC_000008.10:g.100874129G>A , CM000670.1:g.100874129G>A	GRCh37
NC_000008.9:g.100943305G>A	NCBI36
NG_007098.2:g.853636G>A , LRG_351:g.853636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*339G>A	ENSP00000507923.1:n.*339G>A
ENST00000682358.1:n.11315G>A
ENST00000683334.1:c.*6927G>A	ENSP00000507369.1:n.*6927G>A
ENST00000357162.7:c.11170G>A MANE Select	ENSP00000349685.2:p.Glu3724Lys
ENST00000358544.7:c.11245G>A MANE Plus Clinical	ENSP00000351346.2:p.Glu3749Lys
ENST00000357162.6:c.11170G>A	ENSP00000349685.2:p.Glu3724Lys
ENST00000358544.6:c.11245G>A	ENSP00000351346.2:p.Glu3749Lys
NM_017890.4:c.11245G>A , LRG_351t1:c.11245G>A	NP_060360.3:p.Glu3749Lys
NM_152564.4:c.11170G>A , LRG_351t2:c.11170G>A	NP_689777.3:p.Glu3724Lys
XM_005250800.2:c.11245G>A	XP_005250857.1:p.Glu3749Lys
XM_005250801.3:c.11245G>A	XP_005250858.1:p.Glu3749Lys
XM_011516848.1:c.11242G>A	XP_011515150.1:p.Glu3748Lys
XM_011516849.1:c.11167G>A	XP_011515151.1:p.Glu3723Lys
XM_011516850.1:c.10867G>A	XP_011515152.1:p.Glu3623Lys
XM_011516851.1:c.8131G>A	XP_011515153.1:p.Glu2711Lys
XM_011516852.1:c.8131G>A	XP_011515154.1:p.Glu2711Lys
XM_011516854.1:c.7024G>A	XP_011515156.1:p.Glu2342Lys
XM_005250800.3:c.11245G>A	XP_005250857.1:p.Glu3749Lys
XM_005250801.5:c.11245G>A	XP_005250858.1:p.Glu3749Lys
XM_011516848.2:c.11242G>A	XP_011515150.1:p.Glu3748Lys
XM_011516849.2:c.11167G>A	XP_011515151.1:p.Glu3723Lys
XM_011516850.2:c.10867G>A	XP_011515152.1:p.Glu3623Lys
XM_011516851.2:c.8131G>A	XP_011515153.1:p.Glu2711Lys
XM_011516852.2:c.8131G>A	XP_011515154.1:p.Glu2711Lys
XM_011516854.2:c.7024G>A	XP_011515156.1:p.Glu2342Lys
XM_017013109.1:c.11050G>A	XP_016868598.1:p.Glu3684Lys
XM_017013111.1:c.8131G>A	XP_016868600.1:p.Glu2711Lys
XM_017013112.1:c.6802G>A	XP_016868601.1:p.Glu2268Lys
XM_024447074.1:c.10030G>A	XP_024302842.1:p.Glu3344Lys
NM_017890.5:c.11245G>A MANE Plus Clinical	NP_060360.3:p.Glu3749Lys
NM_152564.5:c.11170G>A MANE Select	NP_689777.3:p.Glu3724Lys