Canonical Allele Identifier: CA371875828

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776914-C-G
• MyVariant Identifiers: chr8:g.100789142C>G (hg19) ; chr8:g.99776914C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776914C>G , CM000670.2:g.99776914C>G	GRCh38
NC_000008.10:g.100789142C>G , CM000670.1:g.100789142C>G	GRCh37
NC_000008.9:g.100858318C>G	NCBI36
NG_007098.2:g.768649C>G , LRG_351:g.768649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7462C>G	ENSP00000507923.1:p.Leu2488Val
ENST00000682358.1:n.7532C>G
ENST00000683334.1:c.*3144C>G	ENSP00000507369.1:n.*3144C>G
ENST00000357162.7:c.7387C>G MANE Select	ENSP00000349685.2:p.Leu2463Val
ENST00000358544.7:c.7462C>G MANE Plus Clinical	ENSP00000351346.2:p.Leu2488Val
ENST00000357162.6:c.7387C>G	ENSP00000349685.2:p.Leu2463Val
ENST00000358544.6:c.7462C>G	ENSP00000351346.2:p.Leu2488Val
ENST00000518569.1:n.378-1768C>G
NM_017890.4:c.7462C>G , LRG_351t1:c.7462C>G	NP_060360.3:p.Leu2488Val
NM_152564.4:c.7387C>G , LRG_351t2:c.7387C>G	NP_689777.3:p.Leu2463Val
XM_005250800.2:c.7462C>G	XP_005250857.1:p.Leu2488Val
XM_005250801.3:c.7462C>G	XP_005250858.1:p.Leu2488Val
XM_011516848.1:c.7459C>G	XP_011515150.1:p.Leu2487Val
XM_011516849.1:c.7384C>G	XP_011515151.1:p.Leu2462Val
XM_011516850.1:c.7084C>G	XP_011515152.1:p.Leu2362Val
XM_011516851.1:c.4348C>G	XP_011515153.1:p.Leu1450Val
XM_011516852.1:c.4348C>G	XP_011515154.1:p.Leu1450Val
XM_011516853.1:c.7462C>G	XP_011515155.1:p.Leu2488Val
XM_011516854.1:c.3241C>G	XP_011515156.1:p.Leu1081Val
XR_928446.1:n.1830+5564G>C
XM_005250800.3:c.7462C>G	XP_005250857.1:p.Leu2488Val
XM_005250801.5:c.7462C>G	XP_005250858.1:p.Leu2488Val
XM_011516848.2:c.7459C>G	XP_011515150.1:p.Leu2487Val
XM_011516849.2:c.7384C>G	XP_011515151.1:p.Leu2462Val
XM_011516850.2:c.7084C>G	XP_011515152.1:p.Leu2362Val
XM_011516851.2:c.4348C>G	XP_011515153.1:p.Leu1450Val
XM_011516852.2:c.4348C>G	XP_011515154.1:p.Leu1450Val
XM_011516853.2:c.7462C>G	XP_011515155.1:p.Leu2488Val
XM_011516854.2:c.3241C>G	XP_011515156.1:p.Leu1081Val
XM_017013109.1:c.7267C>G	XP_016868598.1:p.Leu2423Val
XM_017013111.1:c.4348C>G	XP_016868600.1:p.Leu1450Val
XM_017013112.1:c.3019C>G	XP_016868601.1:p.Leu1007Val
XM_024447074.1:c.6247C>G	XP_024302842.1:p.Leu2083Val
NM_017890.5:c.7462C>G MANE Plus Clinical	NP_060360.3:p.Leu2488Val
NM_152564.5:c.7387C>G MANE Select	NP_689777.3:p.Leu2463Val