Canonical Allele Identifier: CA203180

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 198013
• ClinVar RCV Id: RCV000179212 ; RCV000355552 ; RCV000859448
• dbSNP Id: rs149318176
• ExAC: 8:100874154 G / A
• gnomAD v2: 8-100874154-G-A
• gnomAD v3: 8-99861926-G-A
• gnomAD v4: 8-99861926-G-A
• MyVariant Identifiers: chr8:g.100874154G>A (hg19) ; chr8:g.99861926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861926G>A , CM000670.2:g.99861926G>A	GRCh38
NC_000008.10:g.100874154G>A , CM000670.1:g.100874154G>A	GRCh37
NC_000008.9:g.100943330G>A	NCBI36
NG_007098.2:g.853661G>A , LRG_351:g.853661G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*364G>A	ENSP00000507923.1:n.*364G>A
ENST00000682358.1:n.11340G>A
ENST00000683334.1:c.*6952G>A	ENSP00000507369.1:n.*6952G>A
ENST00000357162.7:c.11195G>A MANE Select	ENSP00000349685.2:p.Arg3732Gln
ENST00000358544.7:c.11270G>A MANE Plus Clinical	ENSP00000351346.2:p.Arg3757Gln
ENST00000357162.6:c.11195G>A	ENSP00000349685.2:p.Arg3732Gln
ENST00000358544.6:c.11270G>A	ENSP00000351346.2:p.Arg3757Gln
NM_017890.4:c.11270G>A , LRG_351t1:c.11270G>A	NP_060360.3:p.Arg3757Gln
NM_152564.4:c.11195G>A , LRG_351t2:c.11195G>A	NP_689777.3:p.Arg3732Gln
XM_005250800.2:c.11270G>A	XP_005250857.1:p.Arg3757Gln
XM_005250801.3:c.11270G>A	XP_005250858.1:p.Arg3757Gln
XM_011516848.1:c.11267G>A	XP_011515150.1:p.Arg3756Gln
XM_011516849.1:c.11192G>A	XP_011515151.1:p.Arg3731Gln
XM_011516850.1:c.10892G>A	XP_011515152.1:p.Arg3631Gln
XM_011516851.1:c.8156G>A	XP_011515153.1:p.Arg2719Gln
XM_011516852.1:c.8156G>A	XP_011515154.1:p.Arg2719Gln
XM_011516854.1:c.7049G>A	XP_011515156.1:p.Arg2350Gln
XM_005250800.3:c.11270G>A	XP_005250857.1:p.Arg3757Gln
XM_005250801.5:c.11270G>A	XP_005250858.1:p.Arg3757Gln
XM_011516848.2:c.11267G>A	XP_011515150.1:p.Arg3756Gln
XM_011516849.2:c.11192G>A	XP_011515151.1:p.Arg3731Gln
XM_011516850.2:c.10892G>A	XP_011515152.1:p.Arg3631Gln
XM_011516851.2:c.8156G>A	XP_011515153.1:p.Arg2719Gln
XM_011516852.2:c.8156G>A	XP_011515154.1:p.Arg2719Gln
XM_011516854.2:c.7049G>A	XP_011515156.1:p.Arg2350Gln
XM_017013109.1:c.11075G>A	XP_016868598.1:p.Arg3692Gln
XM_017013111.1:c.8156G>A	XP_016868600.1:p.Arg2719Gln
XM_017013112.1:c.6827G>A	XP_016868601.1:p.Arg2276Gln
XM_024447074.1:c.10055G>A	XP_024302842.1:p.Arg3352Gln
NM_017890.5:c.11270G>A MANE Plus Clinical	NP_060360.3:p.Arg3757Gln
NM_152564.5:c.11195G>A MANE Select	NP_689777.3:p.Arg3732Gln