Canonical Allele Identifier: CA371866824

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100493912C>G (hg19) ; chr8:g.99481684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99481684C>G , CM000670.2:g.99481684C>G	GRCh38
NC_000008.10:g.100493912C>G , CM000670.1:g.100493912C>G	GRCh37
NC_000008.9:g.100563088C>G	NCBI36
NG_007098.2:g.473419C>G , LRG_351:g.473419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.3749C>G	ENSP00000347281.2:p.Thr1250Ser
ENST00000682145.1:n.3629C>G
ENST00000682153.1:c.3752C>G	ENSP00000507923.1:p.Thr1251Ser
ENST00000682234.1:c.*303C>G	ENSP00000508225.1:n.*303C>G
ENST00000682358.1:n.3822C>G
ENST00000683334.1:c.3752C>G	ENSP00000507369.1:p.Thr1251Ser
ENST00000683619.1:n.3924C>G
ENST00000357162.7:c.3752C>G MANE Select	ENSP00000349685.2:p.Thr1251Ser
ENST00000358544.7:c.3752C>G MANE Plus Clinical	ENSP00000351346.2:p.Thr1251Ser
ENST00000357162.6:c.3752C>G	ENSP00000349685.2:p.Thr1251Ser
ENST00000358544.6:c.3752C>G	ENSP00000351346.2:p.Thr1251Ser
ENST00000496144.5:c.3752C>G	ENSP00000430900.1:p.Thr1251Ser
NM_017890.4:c.3752C>G , LRG_351t1:c.3752C>G	NP_060360.3:p.Thr1251Ser
NM_152564.4:c.3752C>G , LRG_351t2:c.3752C>G	NP_689777.3:p.Thr1251Ser
XM_005250800.2:c.3752C>G	XP_005250857.1:p.Thr1251Ser
XM_005250801.3:c.3752C>G	XP_005250858.1:p.Thr1251Ser
XM_006716510.2:c.3752C>G	XP_006716573.1:p.Thr1251Ser
XM_011516848.1:c.3749C>G	XP_011515150.1:p.Thr1250Ser
XM_011516849.1:c.3752C>G	XP_011515151.1:p.Thr1251Ser
XM_011516850.1:c.3374C>G	XP_011515152.1:p.Thr1125Ser
XM_011516851.1:c.638C>G	XP_011515153.1:p.Thr213Ser
XM_011516852.1:c.638C>G	XP_011515154.1:p.Thr213Ser
XM_011516853.1:c.3752C>G	XP_011515155.1:p.Thr1251Ser
XM_011516855.1:c.3752C>G	XP_011515157.1:p.Thr1251Ser
XM_011516856.1:c.3752C>G	XP_011515158.1:p.Thr1251Ser
XM_011516857.1:c.3752C>G	XP_011515159.1:p.Thr1251Ser
XM_011516858.1:c.3752C>G	XP_011515160.1:p.Thr1251Ser
XR_928301.1:n.3855C>G
XR_928302.1:n.3855C>G
XR_928303.1:n.3855C>G
XR_928304.1:n.3855C>G
XM_005250800.3:c.3752C>G	XP_005250857.1:p.Thr1251Ser
XM_005250801.5:c.3752C>G	XP_005250858.1:p.Thr1251Ser
XM_006716510.3:c.3752C>G	XP_006716573.1:p.Thr1251Ser
XM_011516848.2:c.3749C>G	XP_011515150.1:p.Thr1250Ser
XM_011516849.2:c.3752C>G	XP_011515151.1:p.Thr1251Ser
XM_011516850.2:c.3374C>G	XP_011515152.1:p.Thr1125Ser
XM_011516851.2:c.638C>G	XP_011515153.1:p.Thr213Ser
XM_011516852.2:c.638C>G	XP_011515154.1:p.Thr213Ser
XM_011516853.2:c.3752C>G	XP_011515155.1:p.Thr1251Ser
XM_017013109.1:c.3557C>G	XP_016868598.1:p.Thr1186Ser
XM_017013111.1:c.638C>G	XP_016868600.1:p.Thr213Ser
XM_017013112.1:c.-759C>G	XP_016868601.1:n.-759C>G
XM_024447074.1:c.2537C>G	XP_024302842.1:p.Thr846Ser
XR_001745481.1:n.3855C>G
XR_001745482.2:n.3855C>G
XR_001745484.2:n.3871C>G
XR_002956601.1:n.3852C>G
XR_002956602.1:n.3871C>G
XR_928302.2:n.3855C>G
NM_017890.5:c.3752C>G MANE Plus Clinical	NP_060360.3:p.Thr1251Ser
NM_152564.5:c.3752C>G MANE Select	NP_689777.3:p.Thr1251Ser