Canonical Allele Identifier: CA371875541

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2109164
• ClinVar RCV Id: RCV003031784
• MyVariant Identifiers: chr8:g.100789005C>T (hg19) ; chr8:g.99776777C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7325C>T	ENSP00000507923.1:p.Ser2442Phe
ENST00000682358.1:n.7395C>T
ENST00000683334.1:c.*3007C>T	ENSP00000507369.1:n.*3007C>T
ENST00000357162.7:c.7250C>T MANE Select	ENSP00000349685.2:p.Ser2417Phe
ENST00000358544.7:c.7325C>T MANE Plus Clinical	ENSP00000351346.2:p.Ser2442Phe
ENST00000357162.6:c.7250C>T	ENSP00000349685.2:p.Ser2417Phe
ENST00000358544.6:c.7325C>T	ENSP00000351346.2:p.Ser2442Phe
ENST00000518569.1:n.378-1905C>T
NM_017890.4:c.7325C>T , LRG_351t1:c.7325C>T	NP_060360.3:p.Ser2442Phe
NM_152564.4:c.7250C>T , LRG_351t2:c.7250C>T	NP_689777.3:p.Ser2417Phe
XM_005250800.2:c.7325C>T	XP_005250857.1:p.Ser2442Phe
XM_005250801.3:c.7325C>T	XP_005250858.1:p.Ser2442Phe
XM_011516848.1:c.7322C>T	XP_011515150.1:p.Ser2441Phe
XM_011516849.1:c.7247C>T	XP_011515151.1:p.Ser2416Phe
XM_011516850.1:c.6947C>T	XP_011515152.1:p.Ser2316Phe
XM_011516851.1:c.4211C>T	XP_011515153.1:p.Ser1404Phe
XM_011516852.1:c.4211C>T	XP_011515154.1:p.Ser1404Phe
XM_011516853.1:c.7325C>T	XP_011515155.1:p.Ser2442Phe
XM_011516854.1:c.3104C>T	XP_011515156.1:p.Ser1035Phe
XR_928446.1:n.1830+5701G>A
XM_005250800.3:c.7325C>T	XP_005250857.1:p.Ser2442Phe
XM_005250801.5:c.7325C>T	XP_005250858.1:p.Ser2442Phe
XM_011516848.2:c.7322C>T	XP_011515150.1:p.Ser2441Phe
XM_011516849.2:c.7247C>T	XP_011515151.1:p.Ser2416Phe
XM_011516850.2:c.6947C>T	XP_011515152.1:p.Ser2316Phe
XM_011516851.2:c.4211C>T	XP_011515153.1:p.Ser1404Phe
XM_011516852.2:c.4211C>T	XP_011515154.1:p.Ser1404Phe
XM_011516853.2:c.7325C>T	XP_011515155.1:p.Ser2442Phe
XM_011516854.2:c.3104C>T	XP_011515156.1:p.Ser1035Phe
XM_017013109.1:c.7130C>T	XP_016868598.1:p.Ser2377Phe
XM_017013111.1:c.4211C>T	XP_016868600.1:p.Ser1404Phe
XM_017013112.1:c.2882C>T	XP_016868601.1:p.Ser961Phe
XM_024447074.1:c.6110C>T	XP_024302842.1:p.Ser2037Phe
NM_017890.5:c.7325C>T MANE Plus Clinical	NP_060360.3:p.Ser2442Phe
NM_152564.5:c.7250C>T MANE Select	NP_689777.3:p.Ser2417Phe