Canonical Allele Identifier: CA371791706

Gene: VPS13B

Linked Data

• COSMIC: COSM1094206 ; COSM1094207
• MyVariant Identifiers: chr8:g.100880520C>T (hg19) ; chr8:g.99868292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868292C>T , CM000670.2:g.99868292C>T	GRCh38
NC_000008.10:g.100880520C>T , CM000670.1:g.100880520C>T	GRCh37
NC_000008.9:g.100949696C>T	NCBI36
NG_007098.2:g.860027C>T , LRG_351:g.860027C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*388C>T	ENSP00000507923.1:n.*388C>T
ENST00000682358.1:n.11364C>T
ENST00000683334.1:c.*6976C>T	ENSP00000507369.1:n.*6976C>T
ENST00000357162.7:c.11219C>T MANE Select	ENSP00000349685.2:p.Ala3740Val
ENST00000358544.7:c.11294C>T MANE Plus Clinical	ENSP00000351346.2:p.Ala3765Val
ENST00000357162.6:c.11219C>T	ENSP00000349685.2:p.Ala3740Val
ENST00000358544.6:c.11294C>T	ENSP00000351346.2:p.Ala3765Val
ENST00000493587.1:n.236C>T
NM_017890.4:c.11294C>T , LRG_351t1:c.11294C>T	NP_060360.3:p.Ala3765Val
NM_152564.4:c.11219C>T , LRG_351t2:c.11219C>T	NP_689777.3:p.Ala3740Val
XM_005250800.2:c.11294C>T	XP_005250857.1:p.Ala3765Val
XM_005250801.3:c.11294C>T	XP_005250858.1:p.Ala3765Val
XM_011516848.1:c.11291C>T	XP_011515150.1:p.Ala3764Val
XM_011516849.1:c.11216C>T	XP_011515151.1:p.Ala3739Val
XM_011516850.1:c.10916C>T	XP_011515152.1:p.Ala3639Val
XM_011516851.1:c.8180C>T	XP_011515153.1:p.Ala2727Val
XM_011516852.1:c.8180C>T	XP_011515154.1:p.Ala2727Val
XM_011516854.1:c.7073C>T	XP_011515156.1:p.Ala2358Val
XM_005250800.3:c.11294C>T	XP_005250857.1:p.Ala3765Val
XM_005250801.5:c.11294C>T	XP_005250858.1:p.Ala3765Val
XM_011516848.2:c.11291C>T	XP_011515150.1:p.Ala3764Val
XM_011516849.2:c.11216C>T	XP_011515151.1:p.Ala3739Val
XM_011516850.2:c.10916C>T	XP_011515152.1:p.Ala3639Val
XM_011516851.2:c.8180C>T	XP_011515153.1:p.Ala2727Val
XM_011516852.2:c.8180C>T	XP_011515154.1:p.Ala2727Val
XM_011516854.2:c.7073C>T	XP_011515156.1:p.Ala2358Val
XM_017013109.1:c.11099C>T	XP_016868598.1:p.Ala3700Val
XM_017013111.1:c.8180C>T	XP_016868600.1:p.Ala2727Val
XM_017013112.1:c.6851C>T	XP_016868601.1:p.Ala2284Val
XM_024447074.1:c.10079C>T	XP_024302842.1:p.Ala3360Val
NM_017890.5:c.11294C>T MANE Plus Clinical	NP_060360.3:p.Ala3765Val
NM_152564.5:c.11219C>T MANE Select	NP_689777.3:p.Ala3740Val