Canonical Allele Identifier: CA263996
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99859307G>A , CM000670.2:g.99859307G>A GRCh38
NC_000008.10:g.100871535G>A , CM000670.1:g.100871535G>A GRCh37
NC_000008.9:g.100940711G>A NCBI36
NG_007098.2:g.851042G>A , LRG_351:g.851042G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.10871G>A MANE Select NP_689777.3:p.Trp3624Ter
ENST00000357162.7:c.10871G>A MANE Select ENSP00000349685.2:p.Trp3624Ter
NM_017890.5:c.10946G>A MANE Plus Clinical NP_060360.3:p.Trp3649Ter
ENST00000358544.7:c.10946G>A MANE Plus Clinical ENSP00000351346.2:p.Trp3649Ter
NM_017890.4:c.10946G>A , LRG_351t1:c.10946G>A NP_060360.3:p.Trp3649Ter
NM_152564.4:c.10871G>A , LRG_351t2:c.10871G>A NP_689777.3:p.Trp3624Ter
ENST00000357162.6:c.10871G>A ENSP00000349685.2:p.Trp3624Ter
ENST00000358544.6:c.10946G>A ENSP00000351346.2:p.Trp3649Ter
ENST00000682153.1:c.*40G>A ENSP00000507923.1:n.*40G>A
ENST00000682358.1:n.11016G>A
ENST00000683334.1:c.*6628G>A ENSP00000507369.1:n.*6628G>A
XM_005250800.2:c.10946G>A XP_005250857.1:p.Trp3649Ter
XM_005250800.3:c.10946G>A XP_005250857.1:p.Trp3649Ter
XM_005250801.3:c.10946G>A XP_005250858.1:p.Trp3649Ter
XM_005250801.5:c.10946G>A XP_005250858.1:p.Trp3649Ter
XM_011516848.1:c.10943G>A XP_011515150.1:p.Trp3648Ter
XM_011516848.2:c.10943G>A XP_011515150.1:p.Trp3648Ter
XM_011516849.1:c.10868G>A XP_011515151.1:p.Trp3623Ter
XM_011516849.2:c.10868G>A XP_011515151.1:p.Trp3623Ter
XM_011516850.1:c.10568G>A XP_011515152.1:p.Trp3523Ter
XM_011516850.2:c.10568G>A XP_011515152.1:p.Trp3523Ter
XM_011516851.1:c.7832G>A XP_011515153.1:p.Trp2611Ter
XM_011516851.2:c.7832G>A XP_011515153.1:p.Trp2611Ter
XM_011516852.1:c.7832G>A XP_011515154.1:p.Trp2611Ter
XM_011516852.2:c.7832G>A XP_011515154.1:p.Trp2611Ter
XM_011516854.1:c.6725G>A XP_011515156.1:p.Trp2242Ter
XM_011516854.2:c.6725G>A XP_011515156.1:p.Trp2242Ter
XM_017013109.1:c.10751G>A XP_016868598.1:p.Trp3584Ter
XM_017013111.1:c.7832G>A XP_016868600.1:p.Trp2611Ter
XM_017013112.1:c.6503G>A XP_016868601.1:p.Trp2168Ter
XM_024447074.1:c.9731G>A XP_024302842.1:p.Trp3244Ter