Canonical Allele Identifier: CA4825140

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 999275
• ClinVar RCV Id: RCV001295252 ; RCV002437005
• dbSNP Id: rs147891367
• ExAC: 8:100874045 C / T
• gnomAD v2: 8-100874045-C-T
• gnomAD v3: 8-99861817-C-T
• gnomAD v4: 8-99861817-C-T
• MyVariant Identifiers: chr8:g.100874045C>T (hg19) ; chr8:g.99861817C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*255C>T	ENSP00000507923.1:n.*255C>T
ENST00000682358.1:n.11231C>T
ENST00000683334.1:c.*6843C>T	ENSP00000507369.1:n.*6843C>T
ENST00000357162.7:c.11086C>T MANE Select	ENSP00000349685.2:p.Arg3696Trp
ENST00000358544.7:c.11161C>T MANE Plus Clinical	ENSP00000351346.2:p.Arg3721Trp
ENST00000357162.6:c.11086C>T	ENSP00000349685.2:p.Arg3696Trp
ENST00000358544.6:c.11161C>T	ENSP00000351346.2:p.Arg3721Trp
NM_017890.4:c.11161C>T , LRG_351t1:c.11161C>T	NP_060360.3:p.Arg3721Trp
NM_152564.4:c.11086C>T , LRG_351t2:c.11086C>T	NP_689777.3:p.Arg3696Trp
XM_005250800.2:c.11161C>T	XP_005250857.1:p.Arg3721Trp
XM_005250801.3:c.11161C>T	XP_005250858.1:p.Arg3721Trp
XM_011516848.1:c.11158C>T	XP_011515150.1:p.Arg3720Trp
XM_011516849.1:c.11083C>T	XP_011515151.1:p.Arg3695Trp
XM_011516850.1:c.10783C>T	XP_011515152.1:p.Arg3595Trp
XM_011516851.1:c.8047C>T	XP_011515153.1:p.Arg2683Trp
XM_011516852.1:c.8047C>T	XP_011515154.1:p.Arg2683Trp
XM_011516854.1:c.6940C>T	XP_011515156.1:p.Arg2314Trp
XM_005250800.3:c.11161C>T	XP_005250857.1:p.Arg3721Trp
XM_005250801.5:c.11161C>T	XP_005250858.1:p.Arg3721Trp
XM_011516848.2:c.11158C>T	XP_011515150.1:p.Arg3720Trp
XM_011516849.2:c.11083C>T	XP_011515151.1:p.Arg3695Trp
XM_011516850.2:c.10783C>T	XP_011515152.1:p.Arg3595Trp
XM_011516851.2:c.8047C>T	XP_011515153.1:p.Arg2683Trp
XM_011516852.2:c.8047C>T	XP_011515154.1:p.Arg2683Trp
XM_011516854.2:c.6940C>T	XP_011515156.1:p.Arg2314Trp
XM_017013109.1:c.10966C>T	XP_016868598.1:p.Arg3656Trp
XM_017013111.1:c.8047C>T	XP_016868600.1:p.Arg2683Trp
XM_017013112.1:c.6718C>T	XP_016868601.1:p.Arg2240Trp
XM_024447074.1:c.9946C>T	XP_024302842.1:p.Arg3316Trp
NM_017890.5:c.11161C>T MANE Plus Clinical	NP_060360.3:p.Arg3721Trp
NM_152564.5:c.11086C>T MANE Select	NP_689777.3:p.Arg3696Trp