Canonical Allele Identifier: CA462338494

Gene: VPS13B

Linked Data

• dbSNP Id: rs1563514691
• gnomAD v4: 8-99861918-C-T
• MyVariant Identifiers: chr8:g.100874146C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861918C>T , CM000670.2:g.99861918C>T	GRCh38
NC_000008.10:g.100874146C>T , CM000670.1:g.100874146C>T	GRCh37
NC_000008.9:g.100943322C>T	NCBI36
NG_007098.2:g.853653C>T , LRG_351:g.853653C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*356C>T	ENSP00000507923.1:n.*356C>T
ENST00000682358.1:n.11332C>T
ENST00000683334.1:c.*6944C>T	ENSP00000507369.1:n.*6944C>T
ENST00000357162.7:c.11187C>T MANE Select	ENSP00000349685.2:p.Gly3729=
ENST00000358544.7:c.11262C>T MANE Plus Clinical	ENSP00000351346.2:p.Gly3754=
ENST00000357162.6:c.11187C>T	ENSP00000349685.2:p.Gly3729=
ENST00000358544.6:c.11262C>T	ENSP00000351346.2:p.Gly3754=
NM_017890.4:c.11262C>T , LRG_351t1:c.11262C>T	NP_060360.3:p.Gly3754=
NM_152564.4:c.11187C>T , LRG_351t2:c.11187C>T	NP_689777.3:p.Gly3729=
XM_005250800.2:c.11262C>T	XP_005250857.1:p.Gly3754=
XM_005250801.3:c.11262C>T	XP_005250858.1:p.Gly3754=
XM_011516848.1:c.11259C>T	XP_011515150.1:p.Gly3753=
XM_011516849.1:c.11184C>T	XP_011515151.1:p.Gly3728=
XM_011516850.1:c.10884C>T	XP_011515152.1:p.Gly3628=
XM_011516851.1:c.8148C>T	XP_011515153.1:p.Gly2716=
XM_011516852.1:c.8148C>T	XP_011515154.1:p.Gly2716=
XM_011516854.1:c.7041C>T	XP_011515156.1:p.Gly2347=
XM_005250800.3:c.11262C>T	XP_005250857.1:p.Gly3754=
XM_005250801.5:c.11262C>T	XP_005250858.1:p.Gly3754=
XM_011516848.2:c.11259C>T	XP_011515150.1:p.Gly3753=
XM_011516849.2:c.11184C>T	XP_011515151.1:p.Gly3728=
XM_011516850.2:c.10884C>T	XP_011515152.1:p.Gly3628=
XM_011516851.2:c.8148C>T	XP_011515153.1:p.Gly2716=
XM_011516852.2:c.8148C>T	XP_011515154.1:p.Gly2716=
XM_011516854.2:c.7041C>T	XP_011515156.1:p.Gly2347=
XM_017013109.1:c.11067C>T	XP_016868598.1:p.Gly3689=
XM_017013111.1:c.8148C>T	XP_016868600.1:p.Gly2716=
XM_017013112.1:c.6819C>T	XP_016868601.1:p.Gly2273=
XM_024447074.1:c.10047C>T	XP_024302842.1:p.Gly3349=
NM_017890.5:c.11262C>T MANE Plus Clinical	NP_060360.3:p.Gly3754=
NM_152564.5:c.11187C>T MANE Select	NP_689777.3:p.Gly3729=