Canonical Allele Identifier: CA371875676

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1724232
• ClinVar RCV Id: RCV002306787
• MyVariant Identifiers: chr8:g.100789072T>A (hg19) ; chr8:g.99776844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776844T>A , CM000670.2:g.99776844T>A	GRCh38
NC_000008.10:g.100789072T>A , CM000670.1:g.100789072T>A	GRCh37
NC_000008.9:g.100858248T>A	NCBI36
NG_007098.2:g.768579T>A , LRG_351:g.768579T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7392T>A	ENSP00000507923.1:p.Cys2464Ter
ENST00000682358.1:n.7462T>A
ENST00000683334.1:c.*3074T>A	ENSP00000507369.1:n.*3074T>A
ENST00000357162.7:c.7317T>A MANE Select	ENSP00000349685.2:p.Cys2439Ter
ENST00000358544.7:c.7392T>A MANE Plus Clinical	ENSP00000351346.2:p.Cys2464Ter
ENST00000357162.6:c.7317T>A	ENSP00000349685.2:p.Cys2439Ter
ENST00000358544.6:c.7392T>A	ENSP00000351346.2:p.Cys2464Ter
ENST00000518569.1:n.378-1838T>A
NM_017890.4:c.7392T>A , LRG_351t1:c.7392T>A	NP_060360.3:p.Cys2464Ter
NM_152564.4:c.7317T>A , LRG_351t2:c.7317T>A	NP_689777.3:p.Cys2439Ter
XM_005250800.2:c.7392T>A	XP_005250857.1:p.Cys2464Ter
XM_005250801.3:c.7392T>A	XP_005250858.1:p.Cys2464Ter
XM_011516848.1:c.7389T>A	XP_011515150.1:p.Cys2463Ter
XM_011516849.1:c.7314T>A	XP_011515151.1:p.Cys2438Ter
XM_011516850.1:c.7014T>A	XP_011515152.1:p.Cys2338Ter
XM_011516851.1:c.4278T>A	XP_011515153.1:p.Cys1426Ter
XM_011516852.1:c.4278T>A	XP_011515154.1:p.Cys1426Ter
XM_011516853.1:c.7392T>A	XP_011515155.1:p.Cys2464Ter
XM_011516854.1:c.3171T>A	XP_011515156.1:p.Cys1057Ter
XR_928446.1:n.1830+5634A>T
XM_005250800.3:c.7392T>A	XP_005250857.1:p.Cys2464Ter
XM_005250801.5:c.7392T>A	XP_005250858.1:p.Cys2464Ter
XM_011516848.2:c.7389T>A	XP_011515150.1:p.Cys2463Ter
XM_011516849.2:c.7314T>A	XP_011515151.1:p.Cys2438Ter
XM_011516850.2:c.7014T>A	XP_011515152.1:p.Cys2338Ter
XM_011516851.2:c.4278T>A	XP_011515153.1:p.Cys1426Ter
XM_011516852.2:c.4278T>A	XP_011515154.1:p.Cys1426Ter
XM_011516853.2:c.7392T>A	XP_011515155.1:p.Cys2464Ter
XM_011516854.2:c.3171T>A	XP_011515156.1:p.Cys1057Ter
XM_017013109.1:c.7197T>A	XP_016868598.1:p.Cys2399Ter
XM_017013111.1:c.4278T>A	XP_016868600.1:p.Cys1426Ter
XM_017013112.1:c.2949T>A	XP_016868601.1:p.Cys983Ter
XM_024447074.1:c.6177T>A	XP_024302842.1:p.Cys2059Ter
NM_017890.5:c.7392T>A MANE Plus Clinical	NP_060360.3:p.Cys2464Ter
NM_152564.5:c.7317T>A MANE Select	NP_689777.3:p.Cys2439Ter