Canonical Allele Identifier: CA1117113289

Gene: VPS13B

Linked Data

• dbSNP Id: rs1811758564
• gnomAD v3: 8-99776701-T-C
• gnomAD v4: 8-99776701-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776701T>C , CM000670.2:g.99776701T>C	GRCh38
NC_000008.10:g.100788929T>C , CM000670.1:g.100788929T>C	GRCh37
NC_000008.9:g.100858105T>C	NCBI36
NG_007098.2:g.768436T>C , LRG_351:g.768436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7323-74T>C	ENSP00000507923.1:n.7323-74T>C
ENST00000682358.1:n.7393-74T>C
ENST00000683334.1:c.*3005-74T>C	ENSP00000507369.1:n.*3005-74T>C
ENST00000357162.7:c.7248-74T>C MANE Select	ENSP00000349685.2:n.7248-74T>C
ENST00000358544.7:c.7323-74T>C MANE Plus Clinical	ENSP00000351346.2:n.7323-74T>C
ENST00000357162.6:c.7248-74T>C	ENSP00000349685.2:n.7248-74T>C
ENST00000358544.6:c.7323-74T>C	ENSP00000351346.2:n.7323-74T>C
ENST00000518569.1:n.378-1981T>C
NM_017890.4:c.7323-74T>C , LRG_351t1:c.7323-74T>C	NP_060360.3:n.7323-74T>C
NM_152564.4:c.7248-74T>C , LRG_351t2:c.7248-74T>C	NP_689777.3:n.7248-74T>C
XM_005250800.2:c.7323-74T>C	XP_005250857.1:n.7323-74T>C
XM_005250801.3:c.7323-74T>C	XP_005250858.1:n.7323-74T>C
XM_011516848.1:c.7320-74T>C	XP_011515150.1:n.7320-74T>C
XM_011516849.1:c.7245-74T>C	XP_011515151.1:n.7245-74T>C
XM_011516850.1:c.6945-74T>C	XP_011515152.1:n.6945-74T>C
XM_011516851.1:c.4209-74T>C	XP_011515153.1:n.4209-74T>C
XM_011516852.1:c.4209-74T>C	XP_011515154.1:n.4209-74T>C
XM_011516853.1:c.7323-74T>C	XP_011515155.1:n.7323-74T>C
XM_011516854.1:c.3102-74T>C	XP_011515156.1:n.3102-74T>C
XR_928446.1:n.1830+5777A>G
XM_005250800.3:c.7323-74T>C	XP_005250857.1:n.7323-74T>C
XM_005250801.5:c.7323-74T>C	XP_005250858.1:n.7323-74T>C
XM_011516848.2:c.7320-74T>C	XP_011515150.1:n.7320-74T>C
XM_011516849.2:c.7245-74T>C	XP_011515151.1:n.7245-74T>C
XM_011516850.2:c.6945-74T>C	XP_011515152.1:n.6945-74T>C
XM_011516851.2:c.4209-74T>C	XP_011515153.1:n.4209-74T>C
XM_011516852.2:c.4209-74T>C	XP_011515154.1:n.4209-74T>C
XM_011516853.2:c.7323-74T>C	XP_011515155.1:n.7323-74T>C
XM_011516854.2:c.3102-74T>C	XP_011515156.1:n.3102-74T>C
XM_017013109.1:c.7128-74T>C	XP_016868598.1:n.7128-74T>C
XM_017013111.1:c.4209-74T>C	XP_016868600.1:n.4209-74T>C
XM_017013112.1:c.2880-74T>C	XP_016868601.1:n.2880-74T>C
XM_024447074.1:c.6108-74T>C	XP_024302842.1:n.6108-74T>C
NM_017890.5:c.7323-74T>C MANE Plus Clinical	NP_060360.3:n.7323-74T>C
NM_152564.5:c.7248-74T>C MANE Select	NP_689777.3:n.7248-74T>C