Canonical Allele Identifier: CA371793541
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99870788T>G , CM000670.2:g.99870788T>G GRCh38
NC_000008.10:g.100883016T>G , CM000670.1:g.100883016T>G GRCh37
NC_000008.9:g.100952192T>G NCBI36
NG_007098.2:g.862523T>G , LRG_351:g.862523T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*565T>G ENSP00000507923.1:n.*565T>G
ENST00000682358.1:n.11541T>G
ENST00000683334.1:c.*7153T>G ENSP00000507369.1:n.*7153T>G
ENST00000357162.7:c.11396T>G MANE Select ENSP00000349685.2:p.Ile3799Ser
ENST00000358544.7:c.11471T>G MANE Plus Clinical ENSP00000351346.2:p.Ile3824Ser
ENST00000357162.6:c.11396T>G ENSP00000349685.2:p.Ile3799Ser
ENST00000358544.6:c.11471T>G ENSP00000351346.2:p.Ile3824Ser
ENST00000493587.1:n.413T>G
NM_017890.4:c.11471T>G , LRG_351t1:c.11471T>G NP_060360.3:p.Ile3824Ser
NM_152564.4:c.11396T>G , LRG_351t2:c.11396T>G NP_689777.3:p.Ile3799Ser
XM_005250800.2:c.11471T>G XP_005250857.1:p.Ile3824Ser
XM_005250801.3:c.11471T>G XP_005250858.1:p.Ile3824Ser
XM_011516848.1:c.11468T>G XP_011515150.1:p.Ile3823Ser
XM_011516849.1:c.11393T>G XP_011515151.1:p.Ile3798Ser
XM_011516850.1:c.11093T>G XP_011515152.1:p.Ile3698Ser
XM_011516851.1:c.8357T>G XP_011515153.1:p.Ile2786Ser
XM_011516852.1:c.8357T>G XP_011515154.1:p.Ile2786Ser
XM_011516854.1:c.7250T>G XP_011515156.1:p.Ile2417Ser
XM_005250800.3:c.11471T>G XP_005250857.1:p.Ile3824Ser
XM_005250801.5:c.11471T>G XP_005250858.1:p.Ile3824Ser
XM_011516848.2:c.11468T>G XP_011515150.1:p.Ile3823Ser
XM_011516849.2:c.11393T>G XP_011515151.1:p.Ile3798Ser
XM_011516850.2:c.11093T>G XP_011515152.1:p.Ile3698Ser
XM_011516851.2:c.8357T>G XP_011515153.1:p.Ile2786Ser
XM_011516852.2:c.8357T>G XP_011515154.1:p.Ile2786Ser
XM_011516854.2:c.7250T>G XP_011515156.1:p.Ile2417Ser
XM_017013109.1:c.11276T>G XP_016868598.1:p.Ile3759Ser
XM_017013111.1:c.8357T>G XP_016868600.1:p.Ile2786Ser
XM_017013112.1:c.7028T>G XP_016868601.1:p.Ile2343Ser
XM_024447074.1:c.10256T>G XP_024302842.1:p.Ile3419Ser
NM_017890.5:c.11471T>G MANE Plus Clinical NP_060360.3:p.Ile3824Ser
NM_152564.5:c.11396T>G MANE Select NP_689777.3:p.Ile3799Ser