Canonical Allele Identifier: CA371791964

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868352-C-T
• MyVariant Identifiers: chr8:g.100880580C>T (hg19) ; chr8:g.99868352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868352C>T , CM000670.2:g.99868352C>T	GRCh38
NC_000008.10:g.100880580C>T , CM000670.1:g.100880580C>T	GRCh37
NC_000008.9:g.100949756C>T	NCBI36
NG_007098.2:g.860087C>T , LRG_351:g.860087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*448C>T	ENSP00000507923.1:n.*448C>T
ENST00000682358.1:n.11424C>T
ENST00000683334.1:c.*7036C>T	ENSP00000507369.1:n.*7036C>T
ENST00000357162.7:c.11279C>T MANE Select	ENSP00000349685.2:p.Ala3760Val
ENST00000358544.7:c.11354C>T MANE Plus Clinical	ENSP00000351346.2:p.Ala3785Val
ENST00000357162.6:c.11279C>T	ENSP00000349685.2:p.Ala3760Val
ENST00000358544.6:c.11354C>T	ENSP00000351346.2:p.Ala3785Val
ENST00000493587.1:n.296C>T
NM_017890.4:c.11354C>T , LRG_351t1:c.11354C>T	NP_060360.3:p.Ala3785Val
NM_152564.4:c.11279C>T , LRG_351t2:c.11279C>T	NP_689777.3:p.Ala3760Val
XM_005250800.2:c.11354C>T	XP_005250857.1:p.Ala3785Val
XM_005250801.3:c.11354C>T	XP_005250858.1:p.Ala3785Val
XM_011516848.1:c.11351C>T	XP_011515150.1:p.Ala3784Val
XM_011516849.1:c.11276C>T	XP_011515151.1:p.Ala3759Val
XM_011516850.1:c.10976C>T	XP_011515152.1:p.Ala3659Val
XM_011516851.1:c.8240C>T	XP_011515153.1:p.Ala2747Val
XM_011516852.1:c.8240C>T	XP_011515154.1:p.Ala2747Val
XM_011516854.1:c.7133C>T	XP_011515156.1:p.Ala2378Val
XM_005250800.3:c.11354C>T	XP_005250857.1:p.Ala3785Val
XM_005250801.5:c.11354C>T	XP_005250858.1:p.Ala3785Val
XM_011516848.2:c.11351C>T	XP_011515150.1:p.Ala3784Val
XM_011516849.2:c.11276C>T	XP_011515151.1:p.Ala3759Val
XM_011516850.2:c.10976C>T	XP_011515152.1:p.Ala3659Val
XM_011516851.2:c.8240C>T	XP_011515153.1:p.Ala2747Val
XM_011516852.2:c.8240C>T	XP_011515154.1:p.Ala2747Val
XM_011516854.2:c.7133C>T	XP_011515156.1:p.Ala2378Val
XM_017013109.1:c.11159C>T	XP_016868598.1:p.Ala3720Val
XM_017013111.1:c.8240C>T	XP_016868600.1:p.Ala2747Val
XM_017013112.1:c.6911C>T	XP_016868601.1:p.Ala2304Val
XM_024447074.1:c.10139C>T	XP_024302842.1:p.Ala3380Val
NM_017890.5:c.11354C>T MANE Plus Clinical	NP_060360.3:p.Ala3785Val
NM_152564.5:c.11279C>T MANE Select	NP_689777.3:p.Ala3760Val