Canonical Allele Identifier: CA371792312

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880655T>A (hg19) ; chr8:g.99868427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868427T>A , CM000670.2:g.99868427T>A	GRCh38
NC_000008.10:g.100880655T>A , CM000670.1:g.100880655T>A	GRCh37
NC_000008.9:g.100949831T>A	NCBI36
NG_007098.2:g.860162T>A , LRG_351:g.860162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*523T>A	ENSP00000507923.1:n.*523T>A
ENST00000682358.1:n.11499T>A
ENST00000683334.1:c.*7111T>A	ENSP00000507369.1:n.*7111T>A
ENST00000357162.7:c.11354T>A MANE Select	ENSP00000349685.2:p.Ile3785Asn
ENST00000358544.7:c.11429T>A MANE Plus Clinical	ENSP00000351346.2:p.Ile3810Asn
ENST00000357162.6:c.11354T>A	ENSP00000349685.2:p.Ile3785Asn
ENST00000358544.6:c.11429T>A	ENSP00000351346.2:p.Ile3810Asn
ENST00000493587.1:n.371T>A
NM_017890.4:c.11429T>A , LRG_351t1:c.11429T>A	NP_060360.3:p.Ile3810Asn
NM_152564.4:c.11354T>A , LRG_351t2:c.11354T>A	NP_689777.3:p.Ile3785Asn
XM_005250800.2:c.11429T>A	XP_005250857.1:p.Ile3810Asn
XM_005250801.3:c.11429T>A	XP_005250858.1:p.Ile3810Asn
XM_011516848.1:c.11426T>A	XP_011515150.1:p.Ile3809Asn
XM_011516849.1:c.11351T>A	XP_011515151.1:p.Ile3784Asn
XM_011516850.1:c.11051T>A	XP_011515152.1:p.Ile3684Asn
XM_011516851.1:c.8315T>A	XP_011515153.1:p.Ile2772Asn
XM_011516852.1:c.8315T>A	XP_011515154.1:p.Ile2772Asn
XM_011516854.1:c.7208T>A	XP_011515156.1:p.Ile2403Asn
XM_005250800.3:c.11429T>A	XP_005250857.1:p.Ile3810Asn
XM_005250801.5:c.11429T>A	XP_005250858.1:p.Ile3810Asn
XM_011516848.2:c.11426T>A	XP_011515150.1:p.Ile3809Asn
XM_011516849.2:c.11351T>A	XP_011515151.1:p.Ile3784Asn
XM_011516850.2:c.11051T>A	XP_011515152.1:p.Ile3684Asn
XM_011516851.2:c.8315T>A	XP_011515153.1:p.Ile2772Asn
XM_011516852.2:c.8315T>A	XP_011515154.1:p.Ile2772Asn
XM_011516854.2:c.7208T>A	XP_011515156.1:p.Ile2403Asn
XM_017013109.1:c.11234T>A	XP_016868598.1:p.Ile3745Asn
XM_017013111.1:c.8315T>A	XP_016868600.1:p.Ile2772Asn
XM_017013112.1:c.6986T>A	XP_016868601.1:p.Ile2329Asn
XM_024447074.1:c.10214T>A	XP_024302842.1:p.Ile3405Asn
NM_017890.5:c.11429T>A MANE Plus Clinical	NP_060360.3:p.Ile3810Asn
NM_152564.5:c.11354T>A MANE Select	NP_689777.3:p.Ile3785Asn