Canonical Allele Identifier: CA371790695

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2731309
• ClinVar RCV Id: RCV003499802
• dbSNP Id: rs1432822705
• gnomAD v2: 8-100874138-C-T
• gnomAD v4: 8-99861910-C-T
• MyVariant Identifiers: chr8:g.100874138C>T (hg19) ; chr8:g.99861910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861910C>T , CM000670.2:g.99861910C>T	GRCh38
NC_000008.10:g.100874138C>T , CM000670.1:g.100874138C>T	GRCh37
NC_000008.9:g.100943314C>T	NCBI36
NG_007098.2:g.853645C>T , LRG_351:g.853645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*348C>T	ENSP00000507923.1:n.*348C>T
ENST00000682358.1:n.11324C>T
ENST00000683334.1:c.*6936C>T	ENSP00000507369.1:n.*6936C>T
ENST00000357162.7:c.11179C>T MANE Select	ENSP00000349685.2:p.Arg3727Ter
ENST00000358544.7:c.11254C>T MANE Plus Clinical	ENSP00000351346.2:p.Arg3752Ter
ENST00000357162.6:c.11179C>T	ENSP00000349685.2:p.Arg3727Ter
ENST00000358544.6:c.11254C>T	ENSP00000351346.2:p.Arg3752Ter
NM_017890.4:c.11254C>T , LRG_351t1:c.11254C>T	NP_060360.3:p.Arg3752Ter
NM_152564.4:c.11179C>T , LRG_351t2:c.11179C>T	NP_689777.3:p.Arg3727Ter
XM_005250800.2:c.11254C>T	XP_005250857.1:p.Arg3752Ter
XM_005250801.3:c.11254C>T	XP_005250858.1:p.Arg3752Ter
XM_011516848.1:c.11251C>T	XP_011515150.1:p.Arg3751Ter
XM_011516849.1:c.11176C>T	XP_011515151.1:p.Arg3726Ter
XM_011516850.1:c.10876C>T	XP_011515152.1:p.Arg3626Ter
XM_011516851.1:c.8140C>T	XP_011515153.1:p.Arg2714Ter
XM_011516852.1:c.8140C>T	XP_011515154.1:p.Arg2714Ter
XM_011516854.1:c.7033C>T	XP_011515156.1:p.Arg2345Ter
XM_005250800.3:c.11254C>T	XP_005250857.1:p.Arg3752Ter
XM_005250801.5:c.11254C>T	XP_005250858.1:p.Arg3752Ter
XM_011516848.2:c.11251C>T	XP_011515150.1:p.Arg3751Ter
XM_011516849.2:c.11176C>T	XP_011515151.1:p.Arg3726Ter
XM_011516850.2:c.10876C>T	XP_011515152.1:p.Arg3626Ter
XM_011516851.2:c.8140C>T	XP_011515153.1:p.Arg2714Ter
XM_011516852.2:c.8140C>T	XP_011515154.1:p.Arg2714Ter
XM_011516854.2:c.7033C>T	XP_011515156.1:p.Arg2345Ter
XM_017013109.1:c.11059C>T	XP_016868598.1:p.Arg3687Ter
XM_017013111.1:c.8140C>T	XP_016868600.1:p.Arg2714Ter
XM_017013112.1:c.6811C>T	XP_016868601.1:p.Arg2271Ter
XM_024447074.1:c.10039C>T	XP_024302842.1:p.Arg3347Ter
NM_017890.5:c.11254C>T MANE Plus Clinical	NP_060360.3:p.Arg3752Ter
NM_152564.5:c.11179C>T MANE Select	NP_689777.3:p.Arg3727Ter