Canonical Allele Identifier: CA462339098
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100880527T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868299T>A , CM000670.2:g.99868299T>A GRCh38
NC_000008.10:g.100880527T>A , CM000670.1:g.100880527T>A GRCh37
NC_000008.9:g.100949703T>A NCBI36
NG_007098.2:g.860034T>A , LRG_351:g.860034T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*395T>A ENSP00000507923.1:n.*395T>A
ENST00000682358.1:n.11371T>A
ENST00000683334.1:c.*6983T>A ENSP00000507369.1:n.*6983T>A
ENST00000357162.7:c.11226T>A MANE Select ENSP00000349685.2:p.Ala3742=
ENST00000358544.7:c.11301T>A MANE Plus Clinical ENSP00000351346.2:p.Ala3767=
ENST00000357162.6:c.11226T>A ENSP00000349685.2:p.Ala3742=
ENST00000358544.6:c.11301T>A ENSP00000351346.2:p.Ala3767=
ENST00000493587.1:n.243T>A
NM_017890.4:c.11301T>A , LRG_351t1:c.11301T>A NP_060360.3:p.Ala3767=
NM_152564.4:c.11226T>A , LRG_351t2:c.11226T>A NP_689777.3:p.Ala3742=
XM_005250800.2:c.11301T>A XP_005250857.1:p.Ala3767=
XM_005250801.3:c.11301T>A XP_005250858.1:p.Ala3767=
XM_011516848.1:c.11298T>A XP_011515150.1:p.Ala3766=
XM_011516849.1:c.11223T>A XP_011515151.1:p.Ala3741=
XM_011516850.1:c.10923T>A XP_011515152.1:p.Ala3641=
XM_011516851.1:c.8187T>A XP_011515153.1:p.Ala2729=
XM_011516852.1:c.8187T>A XP_011515154.1:p.Ala2729=
XM_011516854.1:c.7080T>A XP_011515156.1:p.Ala2360=
XM_005250800.3:c.11301T>A XP_005250857.1:p.Ala3767=
XM_005250801.5:c.11301T>A XP_005250858.1:p.Ala3767=
XM_011516848.2:c.11298T>A XP_011515150.1:p.Ala3766=
XM_011516849.2:c.11223T>A XP_011515151.1:p.Ala3741=
XM_011516850.2:c.10923T>A XP_011515152.1:p.Ala3641=
XM_011516851.2:c.8187T>A XP_011515153.1:p.Ala2729=
XM_011516852.2:c.8187T>A XP_011515154.1:p.Ala2729=
XM_011516854.2:c.7080T>A XP_011515156.1:p.Ala2360=
XM_017013109.1:c.11106T>A XP_016868598.1:p.Ala3702=
XM_017013111.1:c.8187T>A XP_016868600.1:p.Ala2729=
XM_017013112.1:c.6858T>A XP_016868601.1:p.Ala2286=
XM_024447074.1:c.10086T>A XP_024302842.1:p.Ala3362=
NM_017890.5:c.11301T>A MANE Plus Clinical NP_060360.3:p.Ala3767=
NM_152564.5:c.11226T>A MANE Select NP_689777.3:p.Ala3742=