Canonical Allele Identifier: CA371790690
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861907C>G , CM000670.2:g.99861907C>G GRCh38
NC_000008.10:g.100874135C>G , CM000670.1:g.100874135C>G GRCh37
NC_000008.9:g.100943311C>G NCBI36
NG_007098.2:g.853642C>G , LRG_351:g.853642C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*345C>G ENSP00000507923.1:n.*345C>G
ENST00000682358.1:n.11321C>G
ENST00000683334.1:c.*6933C>G ENSP00000507369.1:n.*6933C>G
ENST00000357162.7:c.11176C>G MANE Select ENSP00000349685.2:p.Leu3726Val
ENST00000358544.7:c.11251C>G MANE Plus Clinical ENSP00000351346.2:p.Leu3751Val
ENST00000357162.6:c.11176C>G ENSP00000349685.2:p.Leu3726Val
ENST00000358544.6:c.11251C>G ENSP00000351346.2:p.Leu3751Val
NM_017890.4:c.11251C>G , LRG_351t1:c.11251C>G NP_060360.3:p.Leu3751Val
NM_152564.4:c.11176C>G , LRG_351t2:c.11176C>G NP_689777.3:p.Leu3726Val
XM_005250800.2:c.11251C>G XP_005250857.1:p.Leu3751Val
XM_005250801.3:c.11251C>G XP_005250858.1:p.Leu3751Val
XM_011516848.1:c.11248C>G XP_011515150.1:p.Leu3750Val
XM_011516849.1:c.11173C>G XP_011515151.1:p.Leu3725Val
XM_011516850.1:c.10873C>G XP_011515152.1:p.Leu3625Val
XM_011516851.1:c.8137C>G XP_011515153.1:p.Leu2713Val
XM_011516852.1:c.8137C>G XP_011515154.1:p.Leu2713Val
XM_011516854.1:c.7030C>G XP_011515156.1:p.Leu2344Val
XM_005250800.3:c.11251C>G XP_005250857.1:p.Leu3751Val
XM_005250801.5:c.11251C>G XP_005250858.1:p.Leu3751Val
XM_011516848.2:c.11248C>G XP_011515150.1:p.Leu3750Val
XM_011516849.2:c.11173C>G XP_011515151.1:p.Leu3725Val
XM_011516850.2:c.10873C>G XP_011515152.1:p.Leu3625Val
XM_011516851.2:c.8137C>G XP_011515153.1:p.Leu2713Val
XM_011516852.2:c.8137C>G XP_011515154.1:p.Leu2713Val
XM_011516854.2:c.7030C>G XP_011515156.1:p.Leu2344Val
XM_017013109.1:c.11056C>G XP_016868598.1:p.Leu3686Val
XM_017013111.1:c.8137C>G XP_016868600.1:p.Leu2713Val
XM_017013112.1:c.6808C>G XP_016868601.1:p.Leu2270Val
XM_024447074.1:c.10036C>G XP_024302842.1:p.Leu3346Val
NM_017890.5:c.11251C>G MANE Plus Clinical NP_060360.3:p.Leu3751Val
NM_152564.5:c.11176C>G MANE Select NP_689777.3:p.Leu3726Val