Canonical Allele Identifier: CA462457418

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100830705T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99818477T>A , CM000670.2:g.99818477T>A	GRCh38
NC_000008.10:g.100830705T>A , CM000670.1:g.100830705T>A	GRCh37
NC_000008.9:g.100899881T>A	NCBI36
NG_007098.2:g.810212T>A , LRG_351:g.810212T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8463T>A	ENSP00000507923.1:p.Ile2821=
ENST00000682358.1:n.8533T>A
ENST00000683334.1:c.*4145T>A	ENSP00000507369.1:n.*4145T>A
ENST00000357162.7:c.8388T>A MANE Select	ENSP00000349685.2:p.Ile2796=
ENST00000358544.7:c.8463T>A MANE Plus Clinical	ENSP00000351346.2:p.Ile2821=
ENST00000357162.6:c.8388T>A	ENSP00000349685.2:p.Ile2796=
ENST00000358544.6:c.8463T>A	ENSP00000351346.2:p.Ile2821=
NM_017890.4:c.8463T>A , LRG_351t1:c.8463T>A	NP_060360.3:p.Ile2821=
NM_152564.4:c.8388T>A , LRG_351t2:c.8388T>A	NP_689777.3:p.Ile2796=
XM_005250800.2:c.8463T>A	XP_005250857.1:p.Ile2821=
XM_005250801.3:c.8463T>A	XP_005250858.1:p.Ile2821=
XM_011516848.1:c.8460T>A	XP_011515150.1:p.Ile2820=
XM_011516849.1:c.8385T>A	XP_011515151.1:p.Ile2795=
XM_011516850.1:c.8085T>A	XP_011515152.1:p.Ile2695=
XM_011516851.1:c.5349T>A	XP_011515153.1:p.Ile1783=
XM_011516852.1:c.5349T>A	XP_011515154.1:p.Ile1783=
XM_011516854.1:c.4242T>A	XP_011515156.1:p.Ile1414=
XM_005250800.3:c.8463T>A	XP_005250857.1:p.Ile2821=
XM_005250801.5:c.8463T>A	XP_005250858.1:p.Ile2821=
XM_011516848.2:c.8460T>A	XP_011515150.1:p.Ile2820=
XM_011516849.2:c.8385T>A	XP_011515151.1:p.Ile2795=
XM_011516850.2:c.8085T>A	XP_011515152.1:p.Ile2695=
XM_011516851.2:c.5349T>A	XP_011515153.1:p.Ile1783=
XM_011516852.2:c.5349T>A	XP_011515154.1:p.Ile1783=
XM_011516854.2:c.4242T>A	XP_011515156.1:p.Ile1414=
XM_017013109.1:c.8268T>A	XP_016868598.1:p.Ile2756=
XM_017013111.1:c.5349T>A	XP_016868600.1:p.Ile1783=
XM_017013112.1:c.4020T>A	XP_016868601.1:p.Ile1340=
XM_024447074.1:c.7248T>A	XP_024302842.1:p.Ile2416=
NM_017890.5:c.8463T>A MANE Plus Clinical	NP_060360.3:p.Ile2821=
NM_152564.5:c.8388T>A MANE Select	NP_689777.3:p.Ile2796=