Canonical Allele Identifier: CA462338553

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861928-C-T
• MyVariant Identifiers: chr8:g.100874156C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861928C>T , CM000670.2:g.99861928C>T	GRCh38
NC_000008.10:g.100874156C>T , CM000670.1:g.100874156C>T	GRCh37
NC_000008.9:g.100943332C>T	NCBI36
NG_007098.2:g.853663C>T , LRG_351:g.853663C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*366C>T	ENSP00000507923.1:n.*366C>T
ENST00000682358.1:n.11342C>T
ENST00000683334.1:c.*6954C>T	ENSP00000507369.1:n.*6954C>T
ENST00000357162.7:c.11197C>T MANE Select	ENSP00000349685.2:p.Leu3733=
ENST00000358544.7:c.11272C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu3758=
ENST00000357162.6:c.11197C>T	ENSP00000349685.2:p.Leu3733=
ENST00000358544.6:c.11272C>T	ENSP00000351346.2:p.Leu3758=
NM_017890.4:c.11272C>T , LRG_351t1:c.11272C>T	NP_060360.3:p.Leu3758=
NM_152564.4:c.11197C>T , LRG_351t2:c.11197C>T	NP_689777.3:p.Leu3733=
XM_005250800.2:c.11272C>T	XP_005250857.1:p.Leu3758=
XM_005250801.3:c.11272C>T	XP_005250858.1:p.Leu3758=
XM_011516848.1:c.11269C>T	XP_011515150.1:p.Leu3757=
XM_011516849.1:c.11194C>T	XP_011515151.1:p.Leu3732=
XM_011516850.1:c.10894C>T	XP_011515152.1:p.Leu3632=
XM_011516851.1:c.8158C>T	XP_011515153.1:p.Leu2720=
XM_011516852.1:c.8158C>T	XP_011515154.1:p.Leu2720=
XM_011516854.1:c.7051C>T	XP_011515156.1:p.Leu2351=
XM_005250800.3:c.11272C>T	XP_005250857.1:p.Leu3758=
XM_005250801.5:c.11272C>T	XP_005250858.1:p.Leu3758=
XM_011516848.2:c.11269C>T	XP_011515150.1:p.Leu3757=
XM_011516849.2:c.11194C>T	XP_011515151.1:p.Leu3732=
XM_011516850.2:c.10894C>T	XP_011515152.1:p.Leu3632=
XM_011516851.2:c.8158C>T	XP_011515153.1:p.Leu2720=
XM_011516852.2:c.8158C>T	XP_011515154.1:p.Leu2720=
XM_011516854.2:c.7051C>T	XP_011515156.1:p.Leu2351=
XM_017013109.1:c.11077C>T	XP_016868598.1:p.Leu3693=
XM_017013111.1:c.8158C>T	XP_016868600.1:p.Leu2720=
XM_017013112.1:c.6829C>T	XP_016868601.1:p.Leu2277=
XM_024447074.1:c.10057C>T	XP_024302842.1:p.Leu3353=
NM_017890.5:c.11272C>T MANE Plus Clinical	NP_060360.3:p.Leu3758=
NM_152564.5:c.11197C>T MANE Select	NP_689777.3:p.Leu3733=