Canonical Allele Identifier: CA371791699

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880519G>T (hg19) ; chr8:g.99868291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868291G>T , CM000670.2:g.99868291G>T	GRCh38
NC_000008.10:g.100880519G>T , CM000670.1:g.100880519G>T	GRCh37
NC_000008.9:g.100949695G>T	NCBI36
NG_007098.2:g.860026G>T , LRG_351:g.860026G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*387G>T	ENSP00000507923.1:n.*387G>T
ENST00000682358.1:n.11363G>T
ENST00000683334.1:c.*6975G>T	ENSP00000507369.1:n.*6975G>T
ENST00000357162.7:c.11218G>T MANE Select	ENSP00000349685.2:p.Ala3740Ser
ENST00000358544.7:c.11293G>T MANE Plus Clinical	ENSP00000351346.2:p.Ala3765Ser
ENST00000357162.6:c.11218G>T	ENSP00000349685.2:p.Ala3740Ser
ENST00000358544.6:c.11293G>T	ENSP00000351346.2:p.Ala3765Ser
ENST00000493587.1:n.235G>T
NM_017890.4:c.11293G>T , LRG_351t1:c.11293G>T	NP_060360.3:p.Ala3765Ser
NM_152564.4:c.11218G>T , LRG_351t2:c.11218G>T	NP_689777.3:p.Ala3740Ser
XM_005250800.2:c.11293G>T	XP_005250857.1:p.Ala3765Ser
XM_005250801.3:c.11293G>T	XP_005250858.1:p.Ala3765Ser
XM_011516848.1:c.11290G>T	XP_011515150.1:p.Ala3764Ser
XM_011516849.1:c.11215G>T	XP_011515151.1:p.Ala3739Ser
XM_011516850.1:c.10915G>T	XP_011515152.1:p.Ala3639Ser
XM_011516851.1:c.8179G>T	XP_011515153.1:p.Ala2727Ser
XM_011516852.1:c.8179G>T	XP_011515154.1:p.Ala2727Ser
XM_011516854.1:c.7072G>T	XP_011515156.1:p.Ala2358Ser
XM_005250800.3:c.11293G>T	XP_005250857.1:p.Ala3765Ser
XM_005250801.5:c.11293G>T	XP_005250858.1:p.Ala3765Ser
XM_011516848.2:c.11290G>T	XP_011515150.1:p.Ala3764Ser
XM_011516849.2:c.11215G>T	XP_011515151.1:p.Ala3739Ser
XM_011516850.2:c.10915G>T	XP_011515152.1:p.Ala3639Ser
XM_011516851.2:c.8179G>T	XP_011515153.1:p.Ala2727Ser
XM_011516852.2:c.8179G>T	XP_011515154.1:p.Ala2727Ser
XM_011516854.2:c.7072G>T	XP_011515156.1:p.Ala2358Ser
XM_017013109.1:c.11098G>T	XP_016868598.1:p.Ala3700Ser
XM_017013111.1:c.8179G>T	XP_016868600.1:p.Ala2727Ser
XM_017013112.1:c.6850G>T	XP_016868601.1:p.Ala2284Ser
XM_024447074.1:c.10078G>T	XP_024302842.1:p.Ala3360Ser
NM_017890.5:c.11293G>T MANE Plus Clinical	NP_060360.3:p.Ala3765Ser
NM_152564.5:c.11218G>T MANE Select	NP_689777.3:p.Ala3740Ser