Canonical Allele Identifier: CA462341003
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100847924T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835696T>A , CM000670.2:g.99835696T>A GRCh38
NC_000008.10:g.100847924T>A , CM000670.1:g.100847924T>A GRCh37
NC_000008.9:g.100917100T>A NCBI36
NG_007098.2:g.827431T>A , LRG_351:g.827431T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.9975T>A ENSP00000507923.1:p.Thr3325=
ENST00000682358.1:n.10045T>A
ENST00000683334.1:c.*5657T>A ENSP00000507369.1:n.*5657T>A
ENST00000357162.7:c.9900T>A MANE Select ENSP00000349685.2:p.Thr3300=
ENST00000358544.7:c.9975T>A MANE Plus Clinical ENSP00000351346.2:p.Thr3325=
ENST00000357162.6:c.9900T>A ENSP00000349685.2:p.Thr3300=
ENST00000358544.6:c.9975T>A ENSP00000351346.2:p.Thr3325=
NM_017890.4:c.9975T>A , LRG_351t1:c.9975T>A NP_060360.3:p.Thr3325=
NM_152564.4:c.9900T>A , LRG_351t2:c.9900T>A NP_689777.3:p.Thr3300=
XM_005250800.2:c.9975T>A XP_005250857.1:p.Thr3325=
XM_005250801.3:c.9975T>A XP_005250858.1:p.Thr3325=
XM_011516848.1:c.9972T>A XP_011515150.1:p.Thr3324=
XM_011516849.1:c.9897T>A XP_011515151.1:p.Thr3299=
XM_011516850.1:c.9597T>A XP_011515152.1:p.Thr3199=
XM_011516851.1:c.6861T>A XP_011515153.1:p.Thr2287=
XM_011516852.1:c.6861T>A XP_011515154.1:p.Thr2287=
XM_011516854.1:c.5754T>A XP_011515156.1:p.Thr1918=
XM_005250800.3:c.9975T>A XP_005250857.1:p.Thr3325=
XM_005250801.5:c.9975T>A XP_005250858.1:p.Thr3325=
XM_011516848.2:c.9972T>A XP_011515150.1:p.Thr3324=
XM_011516849.2:c.9897T>A XP_011515151.1:p.Thr3299=
XM_011516850.2:c.9597T>A XP_011515152.1:p.Thr3199=
XM_011516851.2:c.6861T>A XP_011515153.1:p.Thr2287=
XM_011516852.2:c.6861T>A XP_011515154.1:p.Thr2287=
XM_011516854.2:c.5754T>A XP_011515156.1:p.Thr1918=
XM_017013109.1:c.9780T>A XP_016868598.1:p.Thr3260=
XM_017013111.1:c.6861T>A XP_016868600.1:p.Thr2287=
XM_017013112.1:c.5532T>A XP_016868601.1:p.Thr1844=
XM_024447074.1:c.8760T>A XP_024302842.1:p.Thr2920=
NM_017890.5:c.9975T>A MANE Plus Clinical NP_060360.3:p.Thr3325=
NM_152564.5:c.9900T>A MANE Select NP_689777.3:p.Thr3300=