Canonical Allele Identifier: CA371874125

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100711818A>G (hg19) ; chr8:g.99699590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699590A>G , CM000670.2:g.99699590A>G	GRCh38
NC_000008.10:g.100711818A>G , CM000670.1:g.100711818A>G	GRCh37
NC_000008.9:g.100780994A>G	NCBI36
NG_007098.2:g.691325A>G , LRG_351:g.691325A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6187A>G	ENSP00000507923.1:p.Ile2063Val
ENST00000682358.1:n.6257A>G
ENST00000683334.1:c.*1869A>G	ENSP00000507369.1:n.*1869A>G
ENST00000357162.7:c.6112A>G MANE Select	ENSP00000349685.2:p.Ile2038Val
ENST00000358544.7:c.6187A>G MANE Plus Clinical	ENSP00000351346.2:p.Ile2063Val
ENST00000357162.6:c.6112A>G	ENSP00000349685.2:p.Ile2038Val
ENST00000358544.6:c.6187A>G	ENSP00000351346.2:p.Ile2063Val
NM_017890.4:c.6187A>G , LRG_351t1:c.6187A>G	NP_060360.3:p.Ile2063Val
NM_152564.4:c.6112A>G , LRG_351t2:c.6112A>G	NP_689777.3:p.Ile2038Val
XM_005250800.2:c.6187A>G	XP_005250857.1:p.Ile2063Val
XM_005250801.3:c.6187A>G	XP_005250858.1:p.Ile2063Val
XM_011516848.1:c.6184A>G	XP_011515150.1:p.Ile2062Val
XM_011516849.1:c.6109A>G	XP_011515151.1:p.Ile2037Val
XM_011516850.1:c.5809A>G	XP_011515152.1:p.Ile1937Val
XM_011516851.1:c.3073A>G	XP_011515153.1:p.Ile1025Val
XM_011516852.1:c.3073A>G	XP_011515154.1:p.Ile1025Val
XM_011516853.1:c.6187A>G	XP_011515155.1:p.Ile2063Val
XM_011516854.1:c.1966A>G	XP_011515156.1:p.Ile656Val
XM_005250800.3:c.6187A>G	XP_005250857.1:p.Ile2063Val
XM_005250801.5:c.6187A>G	XP_005250858.1:p.Ile2063Val
XM_011516848.2:c.6184A>G	XP_011515150.1:p.Ile2062Val
XM_011516849.2:c.6109A>G	XP_011515151.1:p.Ile2037Val
XM_011516850.2:c.5809A>G	XP_011515152.1:p.Ile1937Val
XM_011516851.2:c.3073A>G	XP_011515153.1:p.Ile1025Val
XM_011516852.2:c.3073A>G	XP_011515154.1:p.Ile1025Val
XM_011516853.2:c.6187A>G	XP_011515155.1:p.Ile2063Val
XM_011516854.2:c.1966A>G	XP_011515156.1:p.Ile656Val
XM_017013109.1:c.5992A>G	XP_016868598.1:p.Ile1998Val
XM_017013111.1:c.3073A>G	XP_016868600.1:p.Ile1025Val
XM_017013112.1:c.1744A>G	XP_016868601.1:p.Ile582Val
XM_024447074.1:c.4972A>G	XP_024302842.1:p.Ile1658Val
NM_017890.5:c.6187A>G MANE Plus Clinical	NP_060360.3:p.Ile2063Val
NM_152564.5:c.6112A>G MANE Select	NP_689777.3:p.Ile2038Val