Canonical Allele Identifier: CA4825193

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 707366
• ClinVar RCV Id: RCV001272469
• dbSNP Id: rs375229257
• ExAC: 8:100880545 G / C
• gnomAD v2: 8-100880545-G-C
• gnomAD v3: 8-99868317-G-C
• gnomAD v4: 8-99868317-G-C
• MyVariant Identifiers: chr8:g.100880545G>C (hg19) ; chr8:g.99868317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868317G>C , CM000670.2:g.99868317G>C	GRCh38
NC_000008.10:g.100880545G>C , CM000670.1:g.100880545G>C	GRCh37
NC_000008.9:g.100949721G>C	NCBI36
NG_007098.2:g.860052G>C , LRG_351:g.860052G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*413G>C	ENSP00000507923.1:n.*413G>C
ENST00000682358.1:n.11389G>C
ENST00000683334.1:c.*7001G>C	ENSP00000507369.1:n.*7001G>C
ENST00000357162.7:c.11244G>C MANE Select	ENSP00000349685.2:p.Pro3748=
ENST00000358544.7:c.11319G>C MANE Plus Clinical	ENSP00000351346.2:p.Pro3773=
ENST00000357162.6:c.11244G>C	ENSP00000349685.2:p.Pro3748=
ENST00000358544.6:c.11319G>C	ENSP00000351346.2:p.Pro3773=
ENST00000493587.1:n.261G>C
NM_017890.4:c.11319G>C , LRG_351t1:c.11319G>C	NP_060360.3:p.Pro3773=
NM_152564.4:c.11244G>C , LRG_351t2:c.11244G>C	NP_689777.3:p.Pro3748=
XM_005250800.2:c.11319G>C	XP_005250857.1:p.Pro3773=
XM_005250801.3:c.11319G>C	XP_005250858.1:p.Pro3773=
XM_011516848.1:c.11316G>C	XP_011515150.1:p.Pro3772=
XM_011516849.1:c.11241G>C	XP_011515151.1:p.Pro3747=
XM_011516850.1:c.10941G>C	XP_011515152.1:p.Pro3647=
XM_011516851.1:c.8205G>C	XP_011515153.1:p.Pro2735=
XM_011516852.1:c.8205G>C	XP_011515154.1:p.Pro2735=
XM_011516854.1:c.7098G>C	XP_011515156.1:p.Pro2366=
XM_005250800.3:c.11319G>C	XP_005250857.1:p.Pro3773=
XM_005250801.5:c.11319G>C	XP_005250858.1:p.Pro3773=
XM_011516848.2:c.11316G>C	XP_011515150.1:p.Pro3772=
XM_011516849.2:c.11241G>C	XP_011515151.1:p.Pro3747=
XM_011516850.2:c.10941G>C	XP_011515152.1:p.Pro3647=
XM_011516851.2:c.8205G>C	XP_011515153.1:p.Pro2735=
XM_011516852.2:c.8205G>C	XP_011515154.1:p.Pro2735=
XM_011516854.2:c.7098G>C	XP_011515156.1:p.Pro2366=
XM_017013109.1:c.11124G>C	XP_016868598.1:p.Pro3708=
XM_017013111.1:c.8205G>C	XP_016868600.1:p.Pro2735=
XM_017013112.1:c.6876G>C	XP_016868601.1:p.Pro2292=
XM_024447074.1:c.10104G>C	XP_024302842.1:p.Pro3368=
NM_017890.5:c.11319G>C MANE Plus Clinical	NP_060360.3:p.Pro3773=
NM_152564.5:c.11244G>C MANE Select	NP_689777.3:p.Pro3748=