Canonical Allele Identifier: CA371790531
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861856A>G , CM000670.2:g.99861856A>G GRCh38
NC_000008.10:g.100874084A>G , CM000670.1:g.100874084A>G GRCh37
NC_000008.9:g.100943260A>G NCBI36
NG_007098.2:g.853591A>G , LRG_351:g.853591A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*294A>G ENSP00000507923.1:n.*294A>G
ENST00000682358.1:n.11270A>G
ENST00000683334.1:c.*6882A>G ENSP00000507369.1:n.*6882A>G
ENST00000357162.7:c.11125A>G MANE Select ENSP00000349685.2:p.Asn3709Asp
ENST00000358544.7:c.11200A>G MANE Plus Clinical ENSP00000351346.2:p.Asn3734Asp
ENST00000357162.6:c.11125A>G ENSP00000349685.2:p.Asn3709Asp
ENST00000358544.6:c.11200A>G ENSP00000351346.2:p.Asn3734Asp
NM_017890.4:c.11200A>G , LRG_351t1:c.11200A>G NP_060360.3:p.Asn3734Asp
NM_152564.4:c.11125A>G , LRG_351t2:c.11125A>G NP_689777.3:p.Asn3709Asp
XM_005250800.2:c.11200A>G XP_005250857.1:p.Asn3734Asp
XM_005250801.3:c.11200A>G XP_005250858.1:p.Asn3734Asp
XM_011516848.1:c.11197A>G XP_011515150.1:p.Asn3733Asp
XM_011516849.1:c.11122A>G XP_011515151.1:p.Asn3708Asp
XM_011516850.1:c.10822A>G XP_011515152.1:p.Asn3608Asp
XM_011516851.1:c.8086A>G XP_011515153.1:p.Asn2696Asp
XM_011516852.1:c.8086A>G XP_011515154.1:p.Asn2696Asp
XM_011516854.1:c.6979A>G XP_011515156.1:p.Asn2327Asp
XM_005250800.3:c.11200A>G XP_005250857.1:p.Asn3734Asp
XM_005250801.5:c.11200A>G XP_005250858.1:p.Asn3734Asp
XM_011516848.2:c.11197A>G XP_011515150.1:p.Asn3733Asp
XM_011516849.2:c.11122A>G XP_011515151.1:p.Asn3708Asp
XM_011516850.2:c.10822A>G XP_011515152.1:p.Asn3608Asp
XM_011516851.2:c.8086A>G XP_011515153.1:p.Asn2696Asp
XM_011516852.2:c.8086A>G XP_011515154.1:p.Asn2696Asp
XM_011516854.2:c.6979A>G XP_011515156.1:p.Asn2327Asp
XM_017013109.1:c.11005A>G XP_016868598.1:p.Asn3669Asp
XM_017013111.1:c.8086A>G XP_016868600.1:p.Asn2696Asp
XM_017013112.1:c.6757A>G XP_016868601.1:p.Asn2253Asp
XM_024447074.1:c.9985A>G XP_024302842.1:p.Asn3329Asp
NM_017890.5:c.11200A>G MANE Plus Clinical NP_060360.3:p.Asn3734Asp
NM_152564.5:c.11125A>G MANE Select NP_689777.3:p.Asn3709Asp