Canonical Allele Identifier: CA371875713

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789089G>A (hg19) ; chr8:g.99776861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776861G>A , CM000670.2:g.99776861G>A	GRCh38
NC_000008.10:g.100789089G>A , CM000670.1:g.100789089G>A	GRCh37
NC_000008.9:g.100858265G>A	NCBI36
NG_007098.2:g.768596G>A , LRG_351:g.768596G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7409G>A	ENSP00000507923.1:p.Cys2470Tyr
ENST00000682358.1:n.7479G>A
ENST00000683334.1:c.*3091G>A	ENSP00000507369.1:n.*3091G>A
ENST00000357162.7:c.7334G>A MANE Select	ENSP00000349685.2:p.Cys2445Tyr
ENST00000358544.7:c.7409G>A MANE Plus Clinical	ENSP00000351346.2:p.Cys2470Tyr
ENST00000357162.6:c.7334G>A	ENSP00000349685.2:p.Cys2445Tyr
ENST00000358544.6:c.7409G>A	ENSP00000351346.2:p.Cys2470Tyr
ENST00000518569.1:n.378-1821G>A
NM_017890.4:c.7409G>A , LRG_351t1:c.7409G>A	NP_060360.3:p.Cys2470Tyr
NM_152564.4:c.7334G>A , LRG_351t2:c.7334G>A	NP_689777.3:p.Cys2445Tyr
XM_005250800.2:c.7409G>A	XP_005250857.1:p.Cys2470Tyr
XM_005250801.3:c.7409G>A	XP_005250858.1:p.Cys2470Tyr
XM_011516848.1:c.7406G>A	XP_011515150.1:p.Cys2469Tyr
XM_011516849.1:c.7331G>A	XP_011515151.1:p.Cys2444Tyr
XM_011516850.1:c.7031G>A	XP_011515152.1:p.Cys2344Tyr
XM_011516851.1:c.4295G>A	XP_011515153.1:p.Cys1432Tyr
XM_011516852.1:c.4295G>A	XP_011515154.1:p.Cys1432Tyr
XM_011516853.1:c.7409G>A	XP_011515155.1:p.Cys2470Tyr
XM_011516854.1:c.3188G>A	XP_011515156.1:p.Cys1063Tyr
XR_928446.1:n.1830+5617C>T
XM_005250800.3:c.7409G>A	XP_005250857.1:p.Cys2470Tyr
XM_005250801.5:c.7409G>A	XP_005250858.1:p.Cys2470Tyr
XM_011516848.2:c.7406G>A	XP_011515150.1:p.Cys2469Tyr
XM_011516849.2:c.7331G>A	XP_011515151.1:p.Cys2444Tyr
XM_011516850.2:c.7031G>A	XP_011515152.1:p.Cys2344Tyr
XM_011516851.2:c.4295G>A	XP_011515153.1:p.Cys1432Tyr
XM_011516852.2:c.4295G>A	XP_011515154.1:p.Cys1432Tyr
XM_011516853.2:c.7409G>A	XP_011515155.1:p.Cys2470Tyr
XM_011516854.2:c.3188G>A	XP_011515156.1:p.Cys1063Tyr
XM_017013109.1:c.7214G>A	XP_016868598.1:p.Cys2405Tyr
XM_017013111.1:c.4295G>A	XP_016868600.1:p.Cys1432Tyr
XM_017013112.1:c.2966G>A	XP_016868601.1:p.Cys989Tyr
XM_024447074.1:c.6194G>A	XP_024302842.1:p.Cys2065Tyr
NM_017890.5:c.7409G>A MANE Plus Clinical	NP_060360.3:p.Cys2470Tyr
NM_152564.5:c.7334G>A MANE Select	NP_689777.3:p.Cys2445Tyr