Canonical Allele Identifier: CA371790236

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874020C>G (hg19) ; chr8:g.99861792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861792C>G , CM000670.2:g.99861792C>G	GRCh38
NC_000008.10:g.100874020C>G , CM000670.1:g.100874020C>G	GRCh37
NC_000008.9:g.100943196C>G	NCBI36
NG_007098.2:g.853527C>G , LRG_351:g.853527C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*230C>G	ENSP00000507923.1:n.*230C>G
ENST00000682358.1:n.11206C>G
ENST00000683334.1:c.*6818C>G	ENSP00000507369.1:n.*6818C>G
ENST00000357162.7:c.11061C>G MANE Select	ENSP00000349685.2:p.Ile3687Met
ENST00000358544.7:c.11136C>G MANE Plus Clinical	ENSP00000351346.2:p.Ile3712Met
ENST00000357162.6:c.11061C>G	ENSP00000349685.2:p.Ile3687Met
ENST00000358544.6:c.11136C>G	ENSP00000351346.2:p.Ile3712Met
NM_017890.4:c.11136C>G , LRG_351t1:c.11136C>G	NP_060360.3:p.Ile3712Met
NM_152564.4:c.11061C>G , LRG_351t2:c.11061C>G	NP_689777.3:p.Ile3687Met
XM_005250800.2:c.11136C>G	XP_005250857.1:p.Ile3712Met
XM_005250801.3:c.11136C>G	XP_005250858.1:p.Ile3712Met
XM_011516848.1:c.11133C>G	XP_011515150.1:p.Ile3711Met
XM_011516849.1:c.11058C>G	XP_011515151.1:p.Ile3686Met
XM_011516850.1:c.10758C>G	XP_011515152.1:p.Ile3586Met
XM_011516851.1:c.8022C>G	XP_011515153.1:p.Ile2674Met
XM_011516852.1:c.8022C>G	XP_011515154.1:p.Ile2674Met
XM_011516854.1:c.6915C>G	XP_011515156.1:p.Ile2305Met
XM_005250800.3:c.11136C>G	XP_005250857.1:p.Ile3712Met
XM_005250801.5:c.11136C>G	XP_005250858.1:p.Ile3712Met
XM_011516848.2:c.11133C>G	XP_011515150.1:p.Ile3711Met
XM_011516849.2:c.11058C>G	XP_011515151.1:p.Ile3686Met
XM_011516850.2:c.10758C>G	XP_011515152.1:p.Ile3586Met
XM_011516851.2:c.8022C>G	XP_011515153.1:p.Ile2674Met
XM_011516852.2:c.8022C>G	XP_011515154.1:p.Ile2674Met
XM_011516854.2:c.6915C>G	XP_011515156.1:p.Ile2305Met
XM_017013109.1:c.10941C>G	XP_016868598.1:p.Ile3647Met
XM_017013111.1:c.8022C>G	XP_016868600.1:p.Ile2674Met
XM_017013112.1:c.6693C>G	XP_016868601.1:p.Ile2231Met
XM_024447074.1:c.9921C>G	XP_024302842.1:p.Ile3307Met
NM_017890.5:c.11136C>G MANE Plus Clinical	NP_060360.3:p.Ile3712Met
NM_152564.5:c.11061C>G MANE Select	NP_689777.3:p.Ile3687Met