Canonical Allele Identifier: CA371875539

Gene: VPS13B

Linked Data

• dbSNP Id: rs1811761899
• gnomAD v4: 8-99776777-C-A
• COSMIC: COSM1094164 ; COSM1094165
• MyVariant Identifiers: chr8:g.100789005C>A (hg19) ; chr8:g.99776777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776777C>A , CM000670.2:g.99776777C>A	GRCh38
NC_000008.10:g.100789005C>A , CM000670.1:g.100789005C>A	GRCh37
NC_000008.9:g.100858181C>A	NCBI36
NG_007098.2:g.768512C>A , LRG_351:g.768512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7325C>A	ENSP00000507923.1:p.Ser2442Tyr
ENST00000682358.1:n.7395C>A
ENST00000683334.1:c.*3007C>A	ENSP00000507369.1:n.*3007C>A
ENST00000357162.7:c.7250C>A MANE Select	ENSP00000349685.2:p.Ser2417Tyr
ENST00000358544.7:c.7325C>A MANE Plus Clinical	ENSP00000351346.2:p.Ser2442Tyr
ENST00000357162.6:c.7250C>A	ENSP00000349685.2:p.Ser2417Tyr
ENST00000358544.6:c.7325C>A	ENSP00000351346.2:p.Ser2442Tyr
ENST00000518569.1:n.378-1905C>A
NM_017890.4:c.7325C>A , LRG_351t1:c.7325C>A	NP_060360.3:p.Ser2442Tyr
NM_152564.4:c.7250C>A , LRG_351t2:c.7250C>A	NP_689777.3:p.Ser2417Tyr
XM_005250800.2:c.7325C>A	XP_005250857.1:p.Ser2442Tyr
XM_005250801.3:c.7325C>A	XP_005250858.1:p.Ser2442Tyr
XM_011516848.1:c.7322C>A	XP_011515150.1:p.Ser2441Tyr
XM_011516849.1:c.7247C>A	XP_011515151.1:p.Ser2416Tyr
XM_011516850.1:c.6947C>A	XP_011515152.1:p.Ser2316Tyr
XM_011516851.1:c.4211C>A	XP_011515153.1:p.Ser1404Tyr
XM_011516852.1:c.4211C>A	XP_011515154.1:p.Ser1404Tyr
XM_011516853.1:c.7325C>A	XP_011515155.1:p.Ser2442Tyr
XM_011516854.1:c.3104C>A	XP_011515156.1:p.Ser1035Tyr
XR_928446.1:n.1830+5701G>T
XM_005250800.3:c.7325C>A	XP_005250857.1:p.Ser2442Tyr
XM_005250801.5:c.7325C>A	XP_005250858.1:p.Ser2442Tyr
XM_011516848.2:c.7322C>A	XP_011515150.1:p.Ser2441Tyr
XM_011516849.2:c.7247C>A	XP_011515151.1:p.Ser2416Tyr
XM_011516850.2:c.6947C>A	XP_011515152.1:p.Ser2316Tyr
XM_011516851.2:c.4211C>A	XP_011515153.1:p.Ser1404Tyr
XM_011516852.2:c.4211C>A	XP_011515154.1:p.Ser1404Tyr
XM_011516853.2:c.7325C>A	XP_011515155.1:p.Ser2442Tyr
XM_011516854.2:c.3104C>A	XP_011515156.1:p.Ser1035Tyr
XM_017013109.1:c.7130C>A	XP_016868598.1:p.Ser2377Tyr
XM_017013111.1:c.4211C>A	XP_016868600.1:p.Ser1404Tyr
XM_017013112.1:c.2882C>A	XP_016868601.1:p.Ser961Tyr
XM_024447074.1:c.6110C>A	XP_024302842.1:p.Ser2037Tyr
NM_017890.5:c.7325C>A MANE Plus Clinical	NP_060360.3:p.Ser2442Tyr
NM_152564.5:c.7250C>A MANE Select	NP_689777.3:p.Ser2417Tyr