Canonical Allele Identifier: CA462440276

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729517T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717289T>G , CM000670.2:g.99717289T>G	GRCh38
NC_000008.10:g.100729517T>G , CM000670.1:g.100729517T>G	GRCh37
NC_000008.9:g.100798693T>G	NCBI36
NG_007098.2:g.709024T>G , LRG_351:g.709024T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6648T>G	ENSP00000507923.1:p.Ala2216=
ENST00000682358.1:n.6718T>G
ENST00000683334.1:c.*2330T>G	ENSP00000507369.1:n.*2330T>G
ENST00000357162.7:c.6573T>G MANE Select	ENSP00000349685.2:p.Ala2191=
ENST00000358544.7:c.6648T>G MANE Plus Clinical	ENSP00000351346.2:p.Ala2216=
ENST00000357162.6:c.6573T>G	ENSP00000349685.2:p.Ala2191=
ENST00000358544.6:c.6648T>G	ENSP00000351346.2:p.Ala2216=
NM_017890.4:c.6648T>G , LRG_351t1:c.6648T>G	NP_060360.3:p.Ala2216=
NM_152564.4:c.6573T>G , LRG_351t2:c.6573T>G	NP_689777.3:p.Ala2191=
XM_005250800.2:c.6648T>G	XP_005250857.1:p.Ala2216=
XM_005250801.3:c.6648T>G	XP_005250858.1:p.Ala2216=
XM_011516848.1:c.6645T>G	XP_011515150.1:p.Ala2215=
XM_011516849.1:c.6570T>G	XP_011515151.1:p.Ala2190=
XM_011516850.1:c.6270T>G	XP_011515152.1:p.Ala2090=
XM_011516851.1:c.3534T>G	XP_011515153.1:p.Ala1178=
XM_011516852.1:c.3534T>G	XP_011515154.1:p.Ala1178=
XM_011516853.1:c.6648T>G	XP_011515155.1:p.Ala2216=
XM_011516854.1:c.2427T>G	XP_011515156.1:p.Ala809=
XM_005250800.3:c.6648T>G	XP_005250857.1:p.Ala2216=
XM_005250801.5:c.6648T>G	XP_005250858.1:p.Ala2216=
XM_011516848.2:c.6645T>G	XP_011515150.1:p.Ala2215=
XM_011516849.2:c.6570T>G	XP_011515151.1:p.Ala2190=
XM_011516850.2:c.6270T>G	XP_011515152.1:p.Ala2090=
XM_011516851.2:c.3534T>G	XP_011515153.1:p.Ala1178=
XM_011516852.2:c.3534T>G	XP_011515154.1:p.Ala1178=
XM_011516853.2:c.6648T>G	XP_011515155.1:p.Ala2216=
XM_011516854.2:c.2427T>G	XP_011515156.1:p.Ala809=
XM_017013109.1:c.6453T>G	XP_016868598.1:p.Ala2151=
XM_017013111.1:c.3534T>G	XP_016868600.1:p.Ala1178=
XM_017013112.1:c.2205T>G	XP_016868601.1:p.Ala735=
XM_024447074.1:c.5433T>G	XP_024302842.1:p.Ala1811=
NM_017890.5:c.6648T>G MANE Plus Clinical	NP_060360.3:p.Ala2216=
NM_152564.5:c.6573T>G MANE Select	NP_689777.3:p.Ala2191=