Canonical Allele Identifier: CA371791865

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880558C>G (hg19) ; chr8:g.99868330C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868330C>G , CM000670.2:g.99868330C>G	GRCh38
NC_000008.10:g.100880558C>G , CM000670.1:g.100880558C>G	GRCh37
NC_000008.9:g.100949734C>G	NCBI36
NG_007098.2:g.860065C>G , LRG_351:g.860065C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*426C>G	ENSP00000507923.1:n.*426C>G
ENST00000682358.1:n.11402C>G
ENST00000683334.1:c.*7014C>G	ENSP00000507369.1:n.*7014C>G
ENST00000357162.7:c.11257C>G MANE Select	ENSP00000349685.2:p.Gln3753Glu
ENST00000358544.7:c.11332C>G MANE Plus Clinical	ENSP00000351346.2:p.Gln3778Glu
ENST00000357162.6:c.11257C>G	ENSP00000349685.2:p.Gln3753Glu
ENST00000358544.6:c.11332C>G	ENSP00000351346.2:p.Gln3778Glu
ENST00000493587.1:n.274C>G
NM_017890.4:c.11332C>G , LRG_351t1:c.11332C>G	NP_060360.3:p.Gln3778Glu
NM_152564.4:c.11257C>G , LRG_351t2:c.11257C>G	NP_689777.3:p.Gln3753Glu
XM_005250800.2:c.11332C>G	XP_005250857.1:p.Gln3778Glu
XM_005250801.3:c.11332C>G	XP_005250858.1:p.Gln3778Glu
XM_011516848.1:c.11329C>G	XP_011515150.1:p.Gln3777Glu
XM_011516849.1:c.11254C>G	XP_011515151.1:p.Gln3752Glu
XM_011516850.1:c.10954C>G	XP_011515152.1:p.Gln3652Glu
XM_011516851.1:c.8218C>G	XP_011515153.1:p.Gln2740Glu
XM_011516852.1:c.8218C>G	XP_011515154.1:p.Gln2740Glu
XM_011516854.1:c.7111C>G	XP_011515156.1:p.Gln2371Glu
XM_005250800.3:c.11332C>G	XP_005250857.1:p.Gln3778Glu
XM_005250801.5:c.11332C>G	XP_005250858.1:p.Gln3778Glu
XM_011516848.2:c.11329C>G	XP_011515150.1:p.Gln3777Glu
XM_011516849.2:c.11254C>G	XP_011515151.1:p.Gln3752Glu
XM_011516850.2:c.10954C>G	XP_011515152.1:p.Gln3652Glu
XM_011516851.2:c.8218C>G	XP_011515153.1:p.Gln2740Glu
XM_011516852.2:c.8218C>G	XP_011515154.1:p.Gln2740Glu
XM_011516854.2:c.7111C>G	XP_011515156.1:p.Gln2371Glu
XM_017013109.1:c.11137C>G	XP_016868598.1:p.Gln3713Glu
XM_017013111.1:c.8218C>G	XP_016868600.1:p.Gln2740Glu
XM_017013112.1:c.6889C>G	XP_016868601.1:p.Gln2297Glu
XM_024447074.1:c.10117C>G	XP_024302842.1:p.Gln3373Glu
NM_017890.5:c.11332C>G MANE Plus Clinical	NP_060360.3:p.Gln3778Glu
NM_152564.5:c.11257C>G MANE Select	NP_689777.3:p.Gln3753Glu