Canonical Allele Identifier: CA462339092
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100880524T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868296T>A , CM000670.2:g.99868296T>A GRCh38
NC_000008.10:g.100880524T>A , CM000670.1:g.100880524T>A GRCh37
NC_000008.9:g.100949700T>A NCBI36
NG_007098.2:g.860031T>A , LRG_351:g.860031T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*392T>A ENSP00000507923.1:n.*392T>A
ENST00000682358.1:n.11368T>A
ENST00000683334.1:c.*6980T>A ENSP00000507369.1:n.*6980T>A
ENST00000357162.7:c.11223T>A MANE Select ENSP00000349685.2:p.Ile3741=
ENST00000358544.7:c.11298T>A MANE Plus Clinical ENSP00000351346.2:p.Ile3766=
ENST00000357162.6:c.11223T>A ENSP00000349685.2:p.Ile3741=
ENST00000358544.6:c.11298T>A ENSP00000351346.2:p.Ile3766=
ENST00000493587.1:n.240T>A
NM_017890.4:c.11298T>A , LRG_351t1:c.11298T>A NP_060360.3:p.Ile3766=
NM_152564.4:c.11223T>A , LRG_351t2:c.11223T>A NP_689777.3:p.Ile3741=
XM_005250800.2:c.11298T>A XP_005250857.1:p.Ile3766=
XM_005250801.3:c.11298T>A XP_005250858.1:p.Ile3766=
XM_011516848.1:c.11295T>A XP_011515150.1:p.Ile3765=
XM_011516849.1:c.11220T>A XP_011515151.1:p.Ile3740=
XM_011516850.1:c.10920T>A XP_011515152.1:p.Ile3640=
XM_011516851.1:c.8184T>A XP_011515153.1:p.Ile2728=
XM_011516852.1:c.8184T>A XP_011515154.1:p.Ile2728=
XM_011516854.1:c.7077T>A XP_011515156.1:p.Ile2359=
XM_005250800.3:c.11298T>A XP_005250857.1:p.Ile3766=
XM_005250801.5:c.11298T>A XP_005250858.1:p.Ile3766=
XM_011516848.2:c.11295T>A XP_011515150.1:p.Ile3765=
XM_011516849.2:c.11220T>A XP_011515151.1:p.Ile3740=
XM_011516850.2:c.10920T>A XP_011515152.1:p.Ile3640=
XM_011516851.2:c.8184T>A XP_011515153.1:p.Ile2728=
XM_011516852.2:c.8184T>A XP_011515154.1:p.Ile2728=
XM_011516854.2:c.7077T>A XP_011515156.1:p.Ile2359=
XM_017013109.1:c.11103T>A XP_016868598.1:p.Ile3701=
XM_017013111.1:c.8184T>A XP_016868600.1:p.Ile2728=
XM_017013112.1:c.6855T>A XP_016868601.1:p.Ile2285=
XM_024447074.1:c.10083T>A XP_024302842.1:p.Ile3361=
NM_017890.5:c.11298T>A MANE Plus Clinical NP_060360.3:p.Ile3766=
NM_152564.5:c.11223T>A MANE Select NP_689777.3:p.Ile3741=