Canonical Allele Identifier: CA371792469

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868454-A-C
• MyVariant Identifiers: chr8:g.100880682A>C (hg19) ; chr8:g.99868454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868454A>C , CM000670.2:g.99868454A>C	GRCh38
NC_000008.10:g.100880682A>C , CM000670.1:g.100880682A>C	GRCh37
NC_000008.9:g.100949858A>C	NCBI36
NG_007098.2:g.860189A>C , LRG_351:g.860189A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*550A>C	ENSP00000507923.1:n.*550A>C
ENST00000682358.1:n.11526A>C
ENST00000683334.1:c.*7138A>C	ENSP00000507369.1:n.*7138A>C
ENST00000357162.7:c.11381A>C MANE Select	ENSP00000349685.2:p.Gln3794Pro
ENST00000358544.7:c.11456A>C MANE Plus Clinical	ENSP00000351346.2:p.Gln3819Pro
ENST00000357162.6:c.11381A>C	ENSP00000349685.2:p.Gln3794Pro
ENST00000358544.6:c.11456A>C	ENSP00000351346.2:p.Gln3819Pro
ENST00000493587.1:n.398A>C
NM_017890.4:c.11456A>C , LRG_351t1:c.11456A>C	NP_060360.3:p.Gln3819Pro
NM_152564.4:c.11381A>C , LRG_351t2:c.11381A>C	NP_689777.3:p.Gln3794Pro
XM_005250800.2:c.11456A>C	XP_005250857.1:p.Gln3819Pro
XM_005250801.3:c.11456A>C	XP_005250858.1:p.Gln3819Pro
XM_011516848.1:c.11453A>C	XP_011515150.1:p.Gln3818Pro
XM_011516849.1:c.11378A>C	XP_011515151.1:p.Gln3793Pro
XM_011516850.1:c.11078A>C	XP_011515152.1:p.Gln3693Pro
XM_011516851.1:c.8342A>C	XP_011515153.1:p.Gln2781Pro
XM_011516852.1:c.8342A>C	XP_011515154.1:p.Gln2781Pro
XM_011516854.1:c.7235A>C	XP_011515156.1:p.Gln2412Pro
XM_005250800.3:c.11456A>C	XP_005250857.1:p.Gln3819Pro
XM_005250801.5:c.11456A>C	XP_005250858.1:p.Gln3819Pro
XM_011516848.2:c.11453A>C	XP_011515150.1:p.Gln3818Pro
XM_011516849.2:c.11378A>C	XP_011515151.1:p.Gln3793Pro
XM_011516850.2:c.11078A>C	XP_011515152.1:p.Gln3693Pro
XM_011516851.2:c.8342A>C	XP_011515153.1:p.Gln2781Pro
XM_011516852.2:c.8342A>C	XP_011515154.1:p.Gln2781Pro
XM_011516854.2:c.7235A>C	XP_011515156.1:p.Gln2412Pro
XM_017013109.1:c.11261A>C	XP_016868598.1:p.Gln3754Pro
XM_017013111.1:c.8342A>C	XP_016868600.1:p.Gln2781Pro
XM_017013112.1:c.7013A>C	XP_016868601.1:p.Gln2338Pro
XM_024447074.1:c.10241A>C	XP_024302842.1:p.Gln3414Pro
NM_017890.5:c.11456A>C MANE Plus Clinical	NP_060360.3:p.Gln3819Pro
NM_152564.5:c.11381A>C MANE Select	NP_689777.3:p.Gln3794Pro