Canonical Allele Identifier: CA16041274

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 371653
• ClinVar RCV Id: RCV000412099
• dbSNP Id: rs1057517441
• MyVariant Identifiers: chr8:g.100880516G>A (hg19) ; chr8:g.99868288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868288G>A , CM000670.2:g.99868288G>A	GRCh38
NC_000008.10:g.100880516G>A , CM000670.1:g.100880516G>A	GRCh37
NC_000008.9:g.100949692G>A	NCBI36
NG_007098.2:g.860023G>A , LRG_351:g.860023G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*385-1G>A	ENSP00000507923.1:n.*385-1G>A
ENST00000682358.1:n.11361-1G>A
ENST00000683334.1:c.*6973-1G>A	ENSP00000507369.1:n.*6973-1G>A
ENST00000357162.7:c.11216-1G>A MANE Select	ENSP00000349685.2:n.11216-1G>A
ENST00000358544.7:c.11291-1G>A MANE Plus Clinical	ENSP00000351346.2:n.11291-1G>A
ENST00000357162.6:c.11216-1G>A	ENSP00000349685.2:n.11216-1G>A
ENST00000358544.6:c.11291-1G>A	ENSP00000351346.2:n.11291-1G>A
ENST00000493587.1:n.232G>A
NM_017890.4:c.11291-1G>A , LRG_351t1:c.11291-1G>A	NP_060360.3:n.11291-1G>A
NM_152564.4:c.11216-1G>A , LRG_351t2:c.11216-1G>A	NP_689777.3:n.11216-1G>A
XM_005250800.2:c.11291-1G>A	XP_005250857.1:n.11291-1G>A
XM_005250801.3:c.11291-1G>A	XP_005250858.1:n.11291-1G>A
XM_011516848.1:c.11288-1G>A	XP_011515150.1:n.11288-1G>A
XM_011516849.1:c.11213-1G>A	XP_011515151.1:n.11213-1G>A
XM_011516850.1:c.10913-1G>A	XP_011515152.1:n.10913-1G>A
XM_011516851.1:c.8177-1G>A	XP_011515153.1:n.8177-1G>A
XM_011516852.1:c.8177-1G>A	XP_011515154.1:n.8177-1G>A
XM_011516854.1:c.7070-1G>A	XP_011515156.1:n.7070-1G>A
XM_005250800.3:c.11291-1G>A	XP_005250857.1:n.11291-1G>A
XM_005250801.5:c.11291-1G>A	XP_005250858.1:n.11291-1G>A
XM_011516848.2:c.11288-1G>A	XP_011515150.1:n.11288-1G>A
XM_011516849.2:c.11213-1G>A	XP_011515151.1:n.11213-1G>A
XM_011516850.2:c.10913-1G>A	XP_011515152.1:n.10913-1G>A
XM_011516851.2:c.8177-1G>A	XP_011515153.1:n.8177-1G>A
XM_011516852.2:c.8177-1G>A	XP_011515154.1:n.8177-1G>A
XM_011516854.2:c.7070-1G>A	XP_011515156.1:n.7070-1G>A
XM_017013109.1:c.11096-1G>A	XP_016868598.1:n.11096-1G>A
XM_017013111.1:c.8177-1G>A	XP_016868600.1:n.8177-1G>A
XM_017013112.1:c.6848-1G>A	XP_016868601.1:n.6848-1G>A
XM_024447074.1:c.10076-1G>A	XP_024302842.1:n.10076-1G>A
NM_017890.5:c.11291-1G>A MANE Plus Clinical	NP_060360.3:n.11291-1G>A
NM_152564.5:c.11216-1G>A MANE Select	NP_689777.3:n.11216-1G>A