Canonical Allele Identifier: CA4825159

Gene: VPS13B

Linked Data

• dbSNP Id: rs775017930
• ExAC: 8:100874134 G / T
• gnomAD v2: 8-100874134-G-T
• gnomAD v4: 8-99861906-G-T
• MyVariant Identifiers: chr8:g.100874134G>T (hg19) ; chr8:g.99861906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861906G>T , CM000670.2:g.99861906G>T	GRCh38
NC_000008.10:g.100874134G>T , CM000670.1:g.100874134G>T	GRCh37
NC_000008.9:g.100943310G>T	NCBI36
NG_007098.2:g.853641G>T , LRG_351:g.853641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*344G>T	ENSP00000507923.1:n.*344G>T
ENST00000682358.1:n.11320G>T
ENST00000683334.1:c.*6932G>T	ENSP00000507369.1:n.*6932G>T
ENST00000357162.7:c.11175G>T MANE Select	ENSP00000349685.2:p.Gly3725=
ENST00000358544.7:c.11250G>T MANE Plus Clinical	ENSP00000351346.2:p.Gly3750=
ENST00000357162.6:c.11175G>T	ENSP00000349685.2:p.Gly3725=
ENST00000358544.6:c.11250G>T	ENSP00000351346.2:p.Gly3750=
NM_017890.4:c.11250G>T , LRG_351t1:c.11250G>T	NP_060360.3:p.Gly3750=
NM_152564.4:c.11175G>T , LRG_351t2:c.11175G>T	NP_689777.3:p.Gly3725=
XM_005250800.2:c.11250G>T	XP_005250857.1:p.Gly3750=
XM_005250801.3:c.11250G>T	XP_005250858.1:p.Gly3750=
XM_011516848.1:c.11247G>T	XP_011515150.1:p.Gly3749=
XM_011516849.1:c.11172G>T	XP_011515151.1:p.Gly3724=
XM_011516850.1:c.10872G>T	XP_011515152.1:p.Gly3624=
XM_011516851.1:c.8136G>T	XP_011515153.1:p.Gly2712=
XM_011516852.1:c.8136G>T	XP_011515154.1:p.Gly2712=
XM_011516854.1:c.7029G>T	XP_011515156.1:p.Gly2343=
XM_005250800.3:c.11250G>T	XP_005250857.1:p.Gly3750=
XM_005250801.5:c.11250G>T	XP_005250858.1:p.Gly3750=
XM_011516848.2:c.11247G>T	XP_011515150.1:p.Gly3749=
XM_011516849.2:c.11172G>T	XP_011515151.1:p.Gly3724=
XM_011516850.2:c.10872G>T	XP_011515152.1:p.Gly3624=
XM_011516851.2:c.8136G>T	XP_011515153.1:p.Gly2712=
XM_011516852.2:c.8136G>T	XP_011515154.1:p.Gly2712=
XM_011516854.2:c.7029G>T	XP_011515156.1:p.Gly2343=
XM_017013109.1:c.11055G>T	XP_016868598.1:p.Gly3685=
XM_017013111.1:c.8136G>T	XP_016868600.1:p.Gly2712=
XM_017013112.1:c.6807G>T	XP_016868601.1:p.Gly2269=
XM_024447074.1:c.10035G>T	XP_024302842.1:p.Gly3345=
NM_017890.5:c.11250G>T MANE Plus Clinical	NP_060360.3:p.Gly3750=
NM_152564.5:c.11175G>T MANE Select	NP_689777.3:p.Gly3725=