Canonical Allele Identifier: CA462458049

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2024839
• ClinVar RCV Id: RCV002847994
• MyVariant Identifiers: chr8:g.100865730G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853502G>T , CM000670.2:g.99853502G>T	GRCh38
NC_000008.10:g.100865730G>T , CM000670.1:g.100865730G>T	GRCh37
NC_000008.9:g.100934906G>T	NCBI36
NG_007098.2:g.845237G>T , LRG_351:g.845237G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.10188G>T	ENSP00000507923.1:p.Leu3396=
ENST00000682358.1:n.10258G>T
ENST00000683334.1:c.*5870G>T	ENSP00000507369.1:n.*5870G>T
ENST00000357162.7:c.10113G>T MANE Select	ENSP00000349685.2:p.Leu3371=
ENST00000358544.7:c.10188G>T MANE Plus Clinical	ENSP00000351346.2:p.Leu3396=
ENST00000357162.6:c.10113G>T	ENSP00000349685.2:p.Leu3371=
ENST00000358544.6:c.10188G>T	ENSP00000351346.2:p.Leu3396=
NM_017890.4:c.10188G>T , LRG_351t1:c.10188G>T	NP_060360.3:p.Leu3396=
NM_152564.4:c.10113G>T , LRG_351t2:c.10113G>T	NP_689777.3:p.Leu3371=
XM_005250800.2:c.10188G>T	XP_005250857.1:p.Leu3396=
XM_005250801.3:c.10188G>T	XP_005250858.1:p.Leu3396=
XM_011516848.1:c.10185G>T	XP_011515150.1:p.Leu3395=
XM_011516849.1:c.10110G>T	XP_011515151.1:p.Leu3370=
XM_011516850.1:c.9810G>T	XP_011515152.1:p.Leu3270=
XM_011516851.1:c.7074G>T	XP_011515153.1:p.Leu2358=
XM_011516852.1:c.7074G>T	XP_011515154.1:p.Leu2358=
XM_011516854.1:c.5967G>T	XP_011515156.1:p.Leu1989=
XM_005250800.3:c.10188G>T	XP_005250857.1:p.Leu3396=
XM_005250801.5:c.10188G>T	XP_005250858.1:p.Leu3396=
XM_011516848.2:c.10185G>T	XP_011515150.1:p.Leu3395=
XM_011516849.2:c.10110G>T	XP_011515151.1:p.Leu3370=
XM_011516850.2:c.9810G>T	XP_011515152.1:p.Leu3270=
XM_011516851.2:c.7074G>T	XP_011515153.1:p.Leu2358=
XM_011516852.2:c.7074G>T	XP_011515154.1:p.Leu2358=
XM_011516854.2:c.5967G>T	XP_011515156.1:p.Leu1989=
XM_017013109.1:c.9993G>T	XP_016868598.1:p.Leu3331=
XM_017013111.1:c.7074G>T	XP_016868600.1:p.Leu2358=
XM_017013112.1:c.5745G>T	XP_016868601.1:p.Leu1915=
XM_024447074.1:c.8973G>T	XP_024302842.1:p.Leu2991=
NM_017890.5:c.10188G>T MANE Plus Clinical	NP_060360.3:p.Leu3396=
NM_152564.5:c.10113G>T MANE Select	NP_689777.3:p.Leu3371=