Canonical Allele Identifier: CA371776077
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819425C>G , CM000670.2:g.99819425C>G GRCh38
NC_000008.10:g.100831653C>G , CM000670.1:g.100831653C>G GRCh37
NC_000008.9:g.100900829C>G NCBI36
NG_007098.2:g.811160C>G , LRG_351:g.811160C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8710C>G ENSP00000507923.1:p.Pro2904Ala
ENST00000682358.1:n.8780C>G
ENST00000683334.1:c.*4392C>G ENSP00000507369.1:n.*4392C>G
ENST00000357162.7:c.8635C>G MANE Select ENSP00000349685.2:p.Pro2879Ala
ENST00000358544.7:c.8710C>G MANE Plus Clinical ENSP00000351346.2:p.Pro2904Ala
ENST00000357162.6:c.8635C>G ENSP00000349685.2:p.Pro2879Ala
ENST00000358544.6:c.8710C>G ENSP00000351346.2:p.Pro2904Ala
NM_017890.4:c.8710C>G , LRG_351t1:c.8710C>G NP_060360.3:p.Pro2904Ala
NM_152564.4:c.8635C>G , LRG_351t2:c.8635C>G NP_689777.3:p.Pro2879Ala
XM_005250800.2:c.8710C>G XP_005250857.1:p.Pro2904Ala
XM_005250801.3:c.8710C>G XP_005250858.1:p.Pro2904Ala
XM_011516848.1:c.8707C>G XP_011515150.1:p.Pro2903Ala
XM_011516849.1:c.8632C>G XP_011515151.1:p.Pro2878Ala
XM_011516850.1:c.8332C>G XP_011515152.1:p.Pro2778Ala
XM_011516851.1:c.5596C>G XP_011515153.1:p.Pro1866Ala
XM_011516852.1:c.5596C>G XP_011515154.1:p.Pro1866Ala
XM_011516854.1:c.4489C>G XP_011515156.1:p.Pro1497Ala
XM_005250800.3:c.8710C>G XP_005250857.1:p.Pro2904Ala
XM_005250801.5:c.8710C>G XP_005250858.1:p.Pro2904Ala
XM_011516848.2:c.8707C>G XP_011515150.1:p.Pro2903Ala
XM_011516849.2:c.8632C>G XP_011515151.1:p.Pro2878Ala
XM_011516850.2:c.8332C>G XP_011515152.1:p.Pro2778Ala
XM_011516851.2:c.5596C>G XP_011515153.1:p.Pro1866Ala
XM_011516852.2:c.5596C>G XP_011515154.1:p.Pro1866Ala
XM_011516854.2:c.4489C>G XP_011515156.1:p.Pro1497Ala
XM_017013109.1:c.8515C>G XP_016868598.1:p.Pro2839Ala
XM_017013111.1:c.5596C>G XP_016868600.1:p.Pro1866Ala
XM_017013112.1:c.4267C>G XP_016868601.1:p.Pro1423Ala
XM_024447074.1:c.7495C>G XP_024302842.1:p.Pro2499Ala
NM_017890.5:c.8710C>G MANE Plus Clinical NP_060360.3:p.Pro2904Ala
NM_152564.5:c.8635C>G MANE Select NP_689777.3:p.Pro2879Ala