Canonical Allele Identifier: CA371784416

Gene: VPS13B

Linked Data

• dbSNP Id: rs1373497920
• gnomAD v3: 8-99835653-C-T
• gnomAD v4: 8-99835653-C-T
• MyVariant Identifiers: chr8:g.100847881C>T (hg19) ; chr8:g.99835653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835653C>T , CM000670.2:g.99835653C>T	GRCh38
NC_000008.10:g.100847881C>T , CM000670.1:g.100847881C>T	GRCh37
NC_000008.9:g.100917057C>T	NCBI36
NG_007098.2:g.827388C>T , LRG_351:g.827388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9932C>T	ENSP00000507923.1:p.Pro3311Leu
ENST00000682358.1:n.10002C>T
ENST00000683334.1:c.*5614C>T	ENSP00000507369.1:n.*5614C>T
ENST00000357162.7:c.9857C>T MANE Select	ENSP00000349685.2:p.Pro3286Leu
ENST00000358544.7:c.9932C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro3311Leu
ENST00000357162.6:c.9857C>T	ENSP00000349685.2:p.Pro3286Leu
ENST00000358544.6:c.9932C>T	ENSP00000351346.2:p.Pro3311Leu
NM_017890.4:c.9932C>T , LRG_351t1:c.9932C>T	NP_060360.3:p.Pro3311Leu
NM_152564.4:c.9857C>T , LRG_351t2:c.9857C>T	NP_689777.3:p.Pro3286Leu
XM_005250800.2:c.9932C>T	XP_005250857.1:p.Pro3311Leu
XM_005250801.3:c.9932C>T	XP_005250858.1:p.Pro3311Leu
XM_011516848.1:c.9929C>T	XP_011515150.1:p.Pro3310Leu
XM_011516849.1:c.9854C>T	XP_011515151.1:p.Pro3285Leu
XM_011516850.1:c.9554C>T	XP_011515152.1:p.Pro3185Leu
XM_011516851.1:c.6818C>T	XP_011515153.1:p.Pro2273Leu
XM_011516852.1:c.6818C>T	XP_011515154.1:p.Pro2273Leu
XM_011516854.1:c.5711C>T	XP_011515156.1:p.Pro1904Leu
XM_005250800.3:c.9932C>T	XP_005250857.1:p.Pro3311Leu
XM_005250801.5:c.9932C>T	XP_005250858.1:p.Pro3311Leu
XM_011516848.2:c.9929C>T	XP_011515150.1:p.Pro3310Leu
XM_011516849.2:c.9854C>T	XP_011515151.1:p.Pro3285Leu
XM_011516850.2:c.9554C>T	XP_011515152.1:p.Pro3185Leu
XM_011516851.2:c.6818C>T	XP_011515153.1:p.Pro2273Leu
XM_011516852.2:c.6818C>T	XP_011515154.1:p.Pro2273Leu
XM_011516854.2:c.5711C>T	XP_011515156.1:p.Pro1904Leu
XM_017013109.1:c.9737C>T	XP_016868598.1:p.Pro3246Leu
XM_017013111.1:c.6818C>T	XP_016868600.1:p.Pro2273Leu
XM_017013112.1:c.5489C>T	XP_016868601.1:p.Pro1830Leu
XM_024447074.1:c.8717C>T	XP_024302842.1:p.Pro2906Leu
NM_017890.5:c.9932C>T MANE Plus Clinical	NP_060360.3:p.Pro3311Leu
NM_152564.5:c.9857C>T MANE Select	NP_689777.3:p.Pro3286Leu