Canonical Allele Identifier: CA462339411

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880662A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868434A>T , CM000670.2:g.99868434A>T	GRCh38
NC_000008.10:g.100880662A>T , CM000670.1:g.100880662A>T	GRCh37
NC_000008.9:g.100949838A>T	NCBI36
NG_007098.2:g.860169A>T , LRG_351:g.860169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*530A>T	ENSP00000507923.1:n.*530A>T
ENST00000682358.1:n.11506A>T
ENST00000683334.1:c.*7118A>T	ENSP00000507369.1:n.*7118A>T
ENST00000357162.7:c.11361A>T MANE Select	ENSP00000349685.2:p.Gly3787=
ENST00000358544.7:c.11436A>T MANE Plus Clinical	ENSP00000351346.2:p.Gly3812=
ENST00000357162.6:c.11361A>T	ENSP00000349685.2:p.Gly3787=
ENST00000358544.6:c.11436A>T	ENSP00000351346.2:p.Gly3812=
ENST00000493587.1:n.378A>T
NM_017890.4:c.11436A>T , LRG_351t1:c.11436A>T	NP_060360.3:p.Gly3812=
NM_152564.4:c.11361A>T , LRG_351t2:c.11361A>T	NP_689777.3:p.Gly3787=
XM_005250800.2:c.11436A>T	XP_005250857.1:p.Gly3812=
XM_005250801.3:c.11436A>T	XP_005250858.1:p.Gly3812=
XM_011516848.1:c.11433A>T	XP_011515150.1:p.Gly3811=
XM_011516849.1:c.11358A>T	XP_011515151.1:p.Gly3786=
XM_011516850.1:c.11058A>T	XP_011515152.1:p.Gly3686=
XM_011516851.1:c.8322A>T	XP_011515153.1:p.Gly2774=
XM_011516852.1:c.8322A>T	XP_011515154.1:p.Gly2774=
XM_011516854.1:c.7215A>T	XP_011515156.1:p.Gly2405=
XM_005250800.3:c.11436A>T	XP_005250857.1:p.Gly3812=
XM_005250801.5:c.11436A>T	XP_005250858.1:p.Gly3812=
XM_011516848.2:c.11433A>T	XP_011515150.1:p.Gly3811=
XM_011516849.2:c.11358A>T	XP_011515151.1:p.Gly3786=
XM_011516850.2:c.11058A>T	XP_011515152.1:p.Gly3686=
XM_011516851.2:c.8322A>T	XP_011515153.1:p.Gly2774=
XM_011516852.2:c.8322A>T	XP_011515154.1:p.Gly2774=
XM_011516854.2:c.7215A>T	XP_011515156.1:p.Gly2405=
XM_017013109.1:c.11241A>T	XP_016868598.1:p.Gly3747=
XM_017013111.1:c.8322A>T	XP_016868600.1:p.Gly2774=
XM_017013112.1:c.6993A>T	XP_016868601.1:p.Gly2331=
XM_024447074.1:c.10221A>T	XP_024302842.1:p.Gly3407=
NM_017890.5:c.11436A>T MANE Plus Clinical	NP_060360.3:p.Gly3812=
NM_152564.5:c.11361A>T MANE Select	NP_689777.3:p.Gly3787=