Canonical Allele Identifier: CA462457368

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100829794C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817566C>T , CM000670.2:g.99817566C>T	GRCh38
NC_000008.10:g.100829794C>T , CM000670.1:g.100829794C>T	GRCh37
NC_000008.9:g.100898970C>T	NCBI36
NG_007098.2:g.809301C>T , LRG_351:g.809301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8199C>T	ENSP00000507923.1:p.Ile2733=
ENST00000682358.1:n.8269C>T
ENST00000683334.1:c.*3881C>T	ENSP00000507369.1:n.*3881C>T
ENST00000357162.7:c.8124C>T MANE Select	ENSP00000349685.2:p.Ile2708=
ENST00000358544.7:c.8199C>T MANE Plus Clinical	ENSP00000351346.2:p.Ile2733=
ENST00000357162.6:c.8124C>T	ENSP00000349685.2:p.Ile2708=
ENST00000358544.6:c.8199C>T	ENSP00000351346.2:p.Ile2733=
NM_017890.4:c.8199C>T , LRG_351t1:c.8199C>T	NP_060360.3:p.Ile2733=
NM_152564.4:c.8124C>T , LRG_351t2:c.8124C>T	NP_689777.3:p.Ile2708=
XM_005250800.2:c.8199C>T	XP_005250857.1:p.Ile2733=
XM_005250801.3:c.8199C>T	XP_005250858.1:p.Ile2733=
XM_011516848.1:c.8196C>T	XP_011515150.1:p.Ile2732=
XM_011516849.1:c.8121C>T	XP_011515151.1:p.Ile2707=
XM_011516850.1:c.7821C>T	XP_011515152.1:p.Ile2607=
XM_011516851.1:c.5085C>T	XP_011515153.1:p.Ile1695=
XM_011516852.1:c.5085C>T	XP_011515154.1:p.Ile1695=
XM_011516854.1:c.3978C>T	XP_011515156.1:p.Ile1326=
XM_005250800.3:c.8199C>T	XP_005250857.1:p.Ile2733=
XM_005250801.5:c.8199C>T	XP_005250858.1:p.Ile2733=
XM_011516848.2:c.8196C>T	XP_011515150.1:p.Ile2732=
XM_011516849.2:c.8121C>T	XP_011515151.1:p.Ile2707=
XM_011516850.2:c.7821C>T	XP_011515152.1:p.Ile2607=
XM_011516851.2:c.5085C>T	XP_011515153.1:p.Ile1695=
XM_011516852.2:c.5085C>T	XP_011515154.1:p.Ile1695=
XM_011516854.2:c.3978C>T	XP_011515156.1:p.Ile1326=
XM_017013109.1:c.8004C>T	XP_016868598.1:p.Ile2668=
XM_017013111.1:c.5085C>T	XP_016868600.1:p.Ile1695=
XM_017013112.1:c.3756C>T	XP_016868601.1:p.Ile1252=
XM_024447074.1:c.6984C>T	XP_024302842.1:p.Ile2328=
NM_017890.5:c.8199C>T MANE Plus Clinical	NP_060360.3:p.Ile2733=
NM_152564.5:c.8124C>T MANE Select	NP_689777.3:p.Ile2708=