Canonical Allele Identifier: CA371875542

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789007G>A (hg19) ; chr8:g.99776779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776779G>A , CM000670.2:g.99776779G>A	GRCh38
NC_000008.10:g.100789007G>A , CM000670.1:g.100789007G>A	GRCh37
NC_000008.9:g.100858183G>A	NCBI36
NG_007098.2:g.768514G>A , LRG_351:g.768514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7327G>A	ENSP00000507923.1:p.Ala2443Thr
ENST00000682358.1:n.7397G>A
ENST00000683334.1:c.*3009G>A	ENSP00000507369.1:n.*3009G>A
ENST00000357162.7:c.7252G>A MANE Select	ENSP00000349685.2:p.Ala2418Thr
ENST00000358544.7:c.7327G>A MANE Plus Clinical	ENSP00000351346.2:p.Ala2443Thr
ENST00000357162.6:c.7252G>A	ENSP00000349685.2:p.Ala2418Thr
ENST00000358544.6:c.7327G>A	ENSP00000351346.2:p.Ala2443Thr
ENST00000518569.1:n.378-1903G>A
NM_017890.4:c.7327G>A , LRG_351t1:c.7327G>A	NP_060360.3:p.Ala2443Thr
NM_152564.4:c.7252G>A , LRG_351t2:c.7252G>A	NP_689777.3:p.Ala2418Thr
XM_005250800.2:c.7327G>A	XP_005250857.1:p.Ala2443Thr
XM_005250801.3:c.7327G>A	XP_005250858.1:p.Ala2443Thr
XM_011516848.1:c.7324G>A	XP_011515150.1:p.Ala2442Thr
XM_011516849.1:c.7249G>A	XP_011515151.1:p.Ala2417Thr
XM_011516850.1:c.6949G>A	XP_011515152.1:p.Ala2317Thr
XM_011516851.1:c.4213G>A	XP_011515153.1:p.Ala1405Thr
XM_011516852.1:c.4213G>A	XP_011515154.1:p.Ala1405Thr
XM_011516853.1:c.7327G>A	XP_011515155.1:p.Ala2443Thr
XM_011516854.1:c.3106G>A	XP_011515156.1:p.Ala1036Thr
XR_928446.1:n.1830+5699C>T
XM_005250800.3:c.7327G>A	XP_005250857.1:p.Ala2443Thr
XM_005250801.5:c.7327G>A	XP_005250858.1:p.Ala2443Thr
XM_011516848.2:c.7324G>A	XP_011515150.1:p.Ala2442Thr
XM_011516849.2:c.7249G>A	XP_011515151.1:p.Ala2417Thr
XM_011516850.2:c.6949G>A	XP_011515152.1:p.Ala2317Thr
XM_011516851.2:c.4213G>A	XP_011515153.1:p.Ala1405Thr
XM_011516852.2:c.4213G>A	XP_011515154.1:p.Ala1405Thr
XM_011516853.2:c.7327G>A	XP_011515155.1:p.Ala2443Thr
XM_011516854.2:c.3106G>A	XP_011515156.1:p.Ala1036Thr
XM_017013109.1:c.7132G>A	XP_016868598.1:p.Ala2378Thr
XM_017013111.1:c.4213G>A	XP_016868600.1:p.Ala1405Thr
XM_017013112.1:c.2884G>A	XP_016868601.1:p.Ala962Thr
XM_024447074.1:c.6112G>A	XP_024302842.1:p.Ala2038Thr
NM_017890.5:c.7327G>A MANE Plus Clinical	NP_060360.3:p.Ala2443Thr
NM_152564.5:c.7252G>A MANE Select	NP_689777.3:p.Ala2418Thr