Canonical Allele Identifier: CA583856229

Gene: VPS13B

Linked Data

• dbSNP Id: rs1423180218
• gnomAD v2: 8-100845200-A-C
• gnomAD v3: 8-99832972-A-C
• gnomAD v4: 8-99832972-A-C
• MyVariant Identifiers: chr8:g.100845200A>C (hg19) ; chr8:g.99832972A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832972A>C , CM000670.2:g.99832972A>C	GRCh38
NC_000008.10:g.100845200A>C , CM000670.1:g.100845200A>C	GRCh37
NC_000008.9:g.100914376A>C	NCBI36
NG_007098.2:g.824707A>C , LRG_351:g.824707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9689+320A>C	ENSP00000507923.1:n.9689+320A>C
ENST00000682358.1:n.9759+320A>C
ENST00000683334.1:c.*5371+320A>C	ENSP00000507369.1:n.*5371+320A>C
ENST00000357162.7:c.9614+320A>C MANE Select	ENSP00000349685.2:n.9614+320A>C
ENST00000358544.7:c.9689+320A>C MANE Plus Clinical	ENSP00000351346.2:n.9689+320A>C
ENST00000357162.6:c.9614+320A>C	ENSP00000349685.2:n.9614+320A>C
ENST00000358544.6:c.9689+320A>C	ENSP00000351346.2:n.9689+320A>C
NM_017890.4:c.9689+320A>C , LRG_351t1:c.9689+320A>C	NP_060360.3:n.9689+320A>C
NM_152564.4:c.9614+320A>C , LRG_351t2:c.9614+320A>C	NP_689777.3:n.9614+320A>C
XM_005250800.2:c.9689+320A>C	XP_005250857.1:n.9689+320A>C
XM_005250801.3:c.9689+320A>C	XP_005250858.1:n.9689+320A>C
XM_011516848.1:c.9686+320A>C	XP_011515150.1:n.9686+320A>C
XM_011516849.1:c.9611+320A>C	XP_011515151.1:n.9611+320A>C
XM_011516850.1:c.9311+320A>C	XP_011515152.1:n.9311+320A>C
XM_011516851.1:c.6575+320A>C	XP_011515153.1:n.6575+320A>C
XM_011516852.1:c.6575+320A>C	XP_011515154.1:n.6575+320A>C
XM_011516854.1:c.5468+320A>C	XP_011515156.1:n.5468+320A>C
XM_005250800.3:c.9689+320A>C	XP_005250857.1:n.9689+320A>C
XM_005250801.5:c.9689+320A>C	XP_005250858.1:n.9689+320A>C
XM_011516848.2:c.9686+320A>C	XP_011515150.1:n.9686+320A>C
XM_011516849.2:c.9611+320A>C	XP_011515151.1:n.9611+320A>C
XM_011516850.2:c.9311+320A>C	XP_011515152.1:n.9311+320A>C
XM_011516851.2:c.6575+320A>C	XP_011515153.1:n.6575+320A>C
XM_011516852.2:c.6575+320A>C	XP_011515154.1:n.6575+320A>C
XM_011516854.2:c.5468+320A>C	XP_011515156.1:n.5468+320A>C
XM_017013109.1:c.9494+320A>C	XP_016868598.1:n.9494+320A>C
XM_017013111.1:c.6575+320A>C	XP_016868600.1:n.6575+320A>C
XM_017013112.1:c.5246+320A>C	XP_016868601.1:n.5246+320A>C
XM_024447074.1:c.8474+320A>C	XP_024302842.1:n.8474+320A>C
NM_017890.5:c.9689+320A>C MANE Plus Clinical	NP_060360.3:n.9689+320A>C
NM_152564.5:c.9614+320A>C MANE Select	NP_689777.3:n.9614+320A>C