Canonical Allele Identifier: CA371790328
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861812T>A , CM000670.2:g.99861812T>A GRCh38
NC_000008.10:g.100874040T>A , CM000670.1:g.100874040T>A GRCh37
NC_000008.9:g.100943216T>A NCBI36
NG_007098.2:g.853547T>A , LRG_351:g.853547T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*250T>A ENSP00000507923.1:n.*250T>A
ENST00000682358.1:n.11226T>A
ENST00000683334.1:c.*6838T>A ENSP00000507369.1:n.*6838T>A
ENST00000357162.7:c.11081T>A MANE Select ENSP00000349685.2:p.Leu3694Gln
ENST00000358544.7:c.11156T>A MANE Plus Clinical ENSP00000351346.2:p.Leu3719Gln
ENST00000357162.6:c.11081T>A ENSP00000349685.2:p.Leu3694Gln
ENST00000358544.6:c.11156T>A ENSP00000351346.2:p.Leu3719Gln
NM_017890.4:c.11156T>A , LRG_351t1:c.11156T>A NP_060360.3:p.Leu3719Gln
NM_152564.4:c.11081T>A , LRG_351t2:c.11081T>A NP_689777.3:p.Leu3694Gln
XM_005250800.2:c.11156T>A XP_005250857.1:p.Leu3719Gln
XM_005250801.3:c.11156T>A XP_005250858.1:p.Leu3719Gln
XM_011516848.1:c.11153T>A XP_011515150.1:p.Leu3718Gln
XM_011516849.1:c.11078T>A XP_011515151.1:p.Leu3693Gln
XM_011516850.1:c.10778T>A XP_011515152.1:p.Leu3593Gln
XM_011516851.1:c.8042T>A XP_011515153.1:p.Leu2681Gln
XM_011516852.1:c.8042T>A XP_011515154.1:p.Leu2681Gln
XM_011516854.1:c.6935T>A XP_011515156.1:p.Leu2312Gln
XM_005250800.3:c.11156T>A XP_005250857.1:p.Leu3719Gln
XM_005250801.5:c.11156T>A XP_005250858.1:p.Leu3719Gln
XM_011516848.2:c.11153T>A XP_011515150.1:p.Leu3718Gln
XM_011516849.2:c.11078T>A XP_011515151.1:p.Leu3693Gln
XM_011516850.2:c.10778T>A XP_011515152.1:p.Leu3593Gln
XM_011516851.2:c.8042T>A XP_011515153.1:p.Leu2681Gln
XM_011516852.2:c.8042T>A XP_011515154.1:p.Leu2681Gln
XM_011516854.2:c.6935T>A XP_011515156.1:p.Leu2312Gln
XM_017013109.1:c.10961T>A XP_016868598.1:p.Leu3654Gln
XM_017013111.1:c.8042T>A XP_016868600.1:p.Leu2681Gln
XM_017013112.1:c.6713T>A XP_016868601.1:p.Leu2238Gln
XM_024447074.1:c.9941T>A XP_024302842.1:p.Leu3314Gln
NM_017890.5:c.11156T>A MANE Plus Clinical NP_060360.3:p.Leu3719Gln
NM_152564.5:c.11081T>A MANE Select NP_689777.3:p.Leu3694Gln