Canonical Allele Identifier: CA371790321

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861810-C-G
• MyVariant Identifiers: chr8:g.100874038C>G (hg19) ; chr8:g.99861810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861810C>G , CM000670.2:g.99861810C>G	GRCh38
NC_000008.10:g.100874038C>G , CM000670.1:g.100874038C>G	GRCh37
NC_000008.9:g.100943214C>G	NCBI36
NG_007098.2:g.853545C>G , LRG_351:g.853545C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*248C>G	ENSP00000507923.1:n.*248C>G
ENST00000682358.1:n.11224C>G
ENST00000683334.1:c.*6836C>G	ENSP00000507369.1:n.*6836C>G
ENST00000357162.7:c.11079C>G MANE Select	ENSP00000349685.2:p.Ser3693Arg
ENST00000358544.7:c.11154C>G MANE Plus Clinical	ENSP00000351346.2:p.Ser3718Arg
ENST00000357162.6:c.11079C>G	ENSP00000349685.2:p.Ser3693Arg
ENST00000358544.6:c.11154C>G	ENSP00000351346.2:p.Ser3718Arg
NM_017890.4:c.11154C>G , LRG_351t1:c.11154C>G	NP_060360.3:p.Ser3718Arg
NM_152564.4:c.11079C>G , LRG_351t2:c.11079C>G	NP_689777.3:p.Ser3693Arg
XM_005250800.2:c.11154C>G	XP_005250857.1:p.Ser3718Arg
XM_005250801.3:c.11154C>G	XP_005250858.1:p.Ser3718Arg
XM_011516848.1:c.11151C>G	XP_011515150.1:p.Ser3717Arg
XM_011516849.1:c.11076C>G	XP_011515151.1:p.Ser3692Arg
XM_011516850.1:c.10776C>G	XP_011515152.1:p.Ser3592Arg
XM_011516851.1:c.8040C>G	XP_011515153.1:p.Ser2680Arg
XM_011516852.1:c.8040C>G	XP_011515154.1:p.Ser2680Arg
XM_011516854.1:c.6933C>G	XP_011515156.1:p.Ser2311Arg
XM_005250800.3:c.11154C>G	XP_005250857.1:p.Ser3718Arg
XM_005250801.5:c.11154C>G	XP_005250858.1:p.Ser3718Arg
XM_011516848.2:c.11151C>G	XP_011515150.1:p.Ser3717Arg
XM_011516849.2:c.11076C>G	XP_011515151.1:p.Ser3692Arg
XM_011516850.2:c.10776C>G	XP_011515152.1:p.Ser3592Arg
XM_011516851.2:c.8040C>G	XP_011515153.1:p.Ser2680Arg
XM_011516852.2:c.8040C>G	XP_011515154.1:p.Ser2680Arg
XM_011516854.2:c.6933C>G	XP_011515156.1:p.Ser2311Arg
XM_017013109.1:c.10959C>G	XP_016868598.1:p.Ser3653Arg
XM_017013111.1:c.8040C>G	XP_016868600.1:p.Ser2680Arg
XM_017013112.1:c.6711C>G	XP_016868601.1:p.Ser2237Arg
XM_024447074.1:c.9939C>G	XP_024302842.1:p.Ser3313Arg
NM_017890.5:c.11154C>G MANE Plus Clinical	NP_060360.3:p.Ser3718Arg
NM_152564.5:c.11079C>G MANE Select	NP_689777.3:p.Ser3693Arg