Canonical Allele Identifier: CA4825157

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 235216
• ClinVar RCV Id: RCV000224241 ; RCV000503376 ; RCV001079398 ; RCV002317745 ; RCV003977629
• dbSNP Id: rs150393340
• ExAC: 8:100874117 G / A
• gnomAD v2: 8-100874117-G-A
• gnomAD v3: 8-99861889-G-A
• gnomAD v4: 8-99861889-G-A
• MyVariant Identifiers: chr8:g.100874117G>A (hg19) ; chr8:g.99861889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861889G>A , CM000670.2:g.99861889G>A	GRCh38
NC_000008.10:g.100874117G>A , CM000670.1:g.100874117G>A	GRCh37
NC_000008.9:g.100943293G>A	NCBI36
NG_007098.2:g.853624G>A , LRG_351:g.853624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*327G>A	ENSP00000507923.1:n.*327G>A
ENST00000682358.1:n.11303G>A
ENST00000683334.1:c.*6915G>A	ENSP00000507369.1:n.*6915G>A
ENST00000357162.7:c.11158G>A MANE Select	ENSP00000349685.2:p.Glu3720Lys
ENST00000358544.7:c.11233G>A MANE Plus Clinical	ENSP00000351346.2:p.Glu3745Lys
ENST00000357162.6:c.11158G>A	ENSP00000349685.2:p.Glu3720Lys
ENST00000358544.6:c.11233G>A	ENSP00000351346.2:p.Glu3745Lys
NM_017890.4:c.11233G>A , LRG_351t1:c.11233G>A	NP_060360.3:p.Glu3745Lys
NM_152564.4:c.11158G>A , LRG_351t2:c.11158G>A	NP_689777.3:p.Glu3720Lys
XM_005250800.2:c.11233G>A	XP_005250857.1:p.Glu3745Lys
XM_005250801.3:c.11233G>A	XP_005250858.1:p.Glu3745Lys
XM_011516848.1:c.11230G>A	XP_011515150.1:p.Glu3744Lys
XM_011516849.1:c.11155G>A	XP_011515151.1:p.Glu3719Lys
XM_011516850.1:c.10855G>A	XP_011515152.1:p.Glu3619Lys
XM_011516851.1:c.8119G>A	XP_011515153.1:p.Glu2707Lys
XM_011516852.1:c.8119G>A	XP_011515154.1:p.Glu2707Lys
XM_011516854.1:c.7012G>A	XP_011515156.1:p.Glu2338Lys
XM_005250800.3:c.11233G>A	XP_005250857.1:p.Glu3745Lys
XM_005250801.5:c.11233G>A	XP_005250858.1:p.Glu3745Lys
XM_011516848.2:c.11230G>A	XP_011515150.1:p.Glu3744Lys
XM_011516849.2:c.11155G>A	XP_011515151.1:p.Glu3719Lys
XM_011516850.2:c.10855G>A	XP_011515152.1:p.Glu3619Lys
XM_011516851.2:c.8119G>A	XP_011515153.1:p.Glu2707Lys
XM_011516852.2:c.8119G>A	XP_011515154.1:p.Glu2707Lys
XM_011516854.2:c.7012G>A	XP_011515156.1:p.Glu2338Lys
XM_017013109.1:c.11038G>A	XP_016868598.1:p.Glu3680Lys
XM_017013111.1:c.8119G>A	XP_016868600.1:p.Glu2707Lys
XM_017013112.1:c.6790G>A	XP_016868601.1:p.Glu2264Lys
XM_024447074.1:c.10018G>A	XP_024302842.1:p.Glu3340Lys
NM_017890.5:c.11233G>A MANE Plus Clinical	NP_060360.3:p.Glu3745Lys
NM_152564.5:c.11158G>A MANE Select	NP_689777.3:p.Glu3720Lys