Canonical Allele Identifier: CA371776582
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819548C>G , CM000670.2:g.99819548C>G GRCh38
NC_000008.10:g.100831776C>G , CM000670.1:g.100831776C>G GRCh37
NC_000008.9:g.100900952C>G NCBI36
NG_007098.2:g.811283C>G , LRG_351:g.811283C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8833C>G ENSP00000507923.1:p.Pro2945Ala
ENST00000682358.1:n.8903C>G
ENST00000683334.1:c.*4515C>G ENSP00000507369.1:n.*4515C>G
ENST00000357162.7:c.8758C>G MANE Select ENSP00000349685.2:p.Pro2920Ala
ENST00000358544.7:c.8833C>G MANE Plus Clinical ENSP00000351346.2:p.Pro2945Ala
ENST00000357162.6:c.8758C>G ENSP00000349685.2:p.Pro2920Ala
ENST00000358544.6:c.8833C>G ENSP00000351346.2:p.Pro2945Ala
NM_017890.4:c.8833C>G , LRG_351t1:c.8833C>G NP_060360.3:p.Pro2945Ala
NM_152564.4:c.8758C>G , LRG_351t2:c.8758C>G NP_689777.3:p.Pro2920Ala
XM_005250800.2:c.8833C>G XP_005250857.1:p.Pro2945Ala
XM_005250801.3:c.8833C>G XP_005250858.1:p.Pro2945Ala
XM_011516848.1:c.8830C>G XP_011515150.1:p.Pro2944Ala
XM_011516849.1:c.8755C>G XP_011515151.1:p.Pro2919Ala
XM_011516850.1:c.8455C>G XP_011515152.1:p.Pro2819Ala
XM_011516851.1:c.5719C>G XP_011515153.1:p.Pro1907Ala
XM_011516852.1:c.5719C>G XP_011515154.1:p.Pro1907Ala
XM_011516854.1:c.4612C>G XP_011515156.1:p.Pro1538Ala
XM_005250800.3:c.8833C>G XP_005250857.1:p.Pro2945Ala
XM_005250801.5:c.8833C>G XP_005250858.1:p.Pro2945Ala
XM_011516848.2:c.8830C>G XP_011515150.1:p.Pro2944Ala
XM_011516849.2:c.8755C>G XP_011515151.1:p.Pro2919Ala
XM_011516850.2:c.8455C>G XP_011515152.1:p.Pro2819Ala
XM_011516851.2:c.5719C>G XP_011515153.1:p.Pro1907Ala
XM_011516852.2:c.5719C>G XP_011515154.1:p.Pro1907Ala
XM_011516854.2:c.4612C>G XP_011515156.1:p.Pro1538Ala
XM_017013109.1:c.8638C>G XP_016868598.1:p.Pro2880Ala
XM_017013111.1:c.5719C>G XP_016868600.1:p.Pro1907Ala
XM_017013112.1:c.4390C>G XP_016868601.1:p.Pro1464Ala
XM_024447074.1:c.7618C>G XP_024302842.1:p.Pro2540Ala
NM_017890.5:c.8833C>G MANE Plus Clinical NP_060360.3:p.Pro2945Ala
NM_152564.5:c.8758C>G MANE Select NP_689777.3:p.Pro2920Ala