Canonical Allele Identifier: CA462338543

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1604932
• ClinVar RCV Id: RCV002149670
• dbSNP Id: rs1284354271
• gnomAD v3: 8-99861927-G-T
• gnomAD v4: 8-99861927-G-T
• MyVariant Identifiers: chr8:g.100874155G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861927G>T , CM000670.2:g.99861927G>T	GRCh38
NC_000008.10:g.100874155G>T , CM000670.1:g.100874155G>T	GRCh37
NC_000008.9:g.100943331G>T	NCBI36
NG_007098.2:g.853662G>T , LRG_351:g.853662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*365G>T	ENSP00000507923.1:n.*365G>T
ENST00000682358.1:n.11341G>T
ENST00000683334.1:c.*6953G>T	ENSP00000507369.1:n.*6953G>T
ENST00000357162.7:c.11196G>T MANE Select	ENSP00000349685.2:p.Arg3732=
ENST00000358544.7:c.11271G>T MANE Plus Clinical	ENSP00000351346.2:p.Arg3757=
ENST00000357162.6:c.11196G>T	ENSP00000349685.2:p.Arg3732=
ENST00000358544.6:c.11271G>T	ENSP00000351346.2:p.Arg3757=
NM_017890.4:c.11271G>T , LRG_351t1:c.11271G>T	NP_060360.3:p.Arg3757=
NM_152564.4:c.11196G>T , LRG_351t2:c.11196G>T	NP_689777.3:p.Arg3732=
XM_005250800.2:c.11271G>T	XP_005250857.1:p.Arg3757=
XM_005250801.3:c.11271G>T	XP_005250858.1:p.Arg3757=
XM_011516848.1:c.11268G>T	XP_011515150.1:p.Arg3756=
XM_011516849.1:c.11193G>T	XP_011515151.1:p.Arg3731=
XM_011516850.1:c.10893G>T	XP_011515152.1:p.Arg3631=
XM_011516851.1:c.8157G>T	XP_011515153.1:p.Arg2719=
XM_011516852.1:c.8157G>T	XP_011515154.1:p.Arg2719=
XM_011516854.1:c.7050G>T	XP_011515156.1:p.Arg2350=
XM_005250800.3:c.11271G>T	XP_005250857.1:p.Arg3757=
XM_005250801.5:c.11271G>T	XP_005250858.1:p.Arg3757=
XM_011516848.2:c.11268G>T	XP_011515150.1:p.Arg3756=
XM_011516849.2:c.11193G>T	XP_011515151.1:p.Arg3731=
XM_011516850.2:c.10893G>T	XP_011515152.1:p.Arg3631=
XM_011516851.2:c.8157G>T	XP_011515153.1:p.Arg2719=
XM_011516852.2:c.8157G>T	XP_011515154.1:p.Arg2719=
XM_011516854.2:c.7050G>T	XP_011515156.1:p.Arg2350=
XM_017013109.1:c.11076G>T	XP_016868598.1:p.Arg3692=
XM_017013111.1:c.8157G>T	XP_016868600.1:p.Arg2719=
XM_017013112.1:c.6828G>T	XP_016868601.1:p.Arg2276=
XM_024447074.1:c.10056G>T	XP_024302842.1:p.Arg3352=
NM_017890.5:c.11271G>T MANE Plus Clinical	NP_060360.3:p.Arg3757=
NM_152564.5:c.11196G>T MANE Select	NP_689777.3:p.Arg3732=