Canonical Allele Identifier: CA462448924
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100779043T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99766815T>G , CM000670.2:g.99766815T>G GRCh38
NC_000008.10:g.100779043T>G , CM000670.1:g.100779043T>G GRCh37
NC_000008.9:g.100848219T>G NCBI36
NG_007098.2:g.758550T>G , LRG_351:g.758550T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.7167T>G ENSP00000507923.1:p.Val2389=
ENST00000682358.1:n.7237T>G
ENST00000683334.1:c.*2849T>G ENSP00000507369.1:n.*2849T>G
ENST00000357162.7:c.7092T>G MANE Select ENSP00000349685.2:p.Val2364=
ENST00000358544.7:c.7167T>G MANE Plus Clinical ENSP00000351346.2:p.Val2389=
ENST00000357162.6:c.7092T>G ENSP00000349685.2:p.Val2364=
ENST00000358544.6:c.7167T>G ENSP00000351346.2:p.Val2389=
ENST00000518569.1:n.222T>G
NM_017890.4:c.7167T>G , LRG_351t1:c.7167T>G NP_060360.3:p.Val2389=
NM_152564.4:c.7092T>G , LRG_351t2:c.7092T>G NP_689777.3:p.Val2364=
XM_005250800.2:c.7167T>G XP_005250857.1:p.Val2389=
XM_005250801.3:c.7167T>G XP_005250858.1:p.Val2389=
XM_011516848.1:c.7164T>G XP_011515150.1:p.Val2388=
XM_011516849.1:c.7089T>G XP_011515151.1:p.Val2363=
XM_011516850.1:c.6789T>G XP_011515152.1:p.Val2263=
XM_011516851.1:c.4053T>G XP_011515153.1:p.Val1351=
XM_011516852.1:c.4053T>G XP_011515154.1:p.Val1351=
XM_011516853.1:c.7167T>G XP_011515155.1:p.Val2389=
XM_011516854.1:c.2946T>G XP_011515156.1:p.Val982=
XR_928446.1:n.2065+3873A>C
XM_005250800.3:c.7167T>G XP_005250857.1:p.Val2389=
XM_005250801.5:c.7167T>G XP_005250858.1:p.Val2389=
XM_011516848.2:c.7164T>G XP_011515150.1:p.Val2388=
XM_011516849.2:c.7089T>G XP_011515151.1:p.Val2363=
XM_011516850.2:c.6789T>G XP_011515152.1:p.Val2263=
XM_011516851.2:c.4053T>G XP_011515153.1:p.Val1351=
XM_011516852.2:c.4053T>G XP_011515154.1:p.Val1351=
XM_011516853.2:c.7167T>G XP_011515155.1:p.Val2389=
XM_011516854.2:c.2946T>G XP_011515156.1:p.Val982=
XM_017013109.1:c.6972T>G XP_016868598.1:p.Val2324=
XM_017013111.1:c.4053T>G XP_016868600.1:p.Val1351=
XM_017013112.1:c.2724T>G XP_016868601.1:p.Val908=
XM_024447074.1:c.5952T>G XP_024302842.1:p.Val1984=
NM_017890.5:c.7167T>G MANE Plus Clinical NP_060360.3:p.Val2389=
NM_152564.5:c.7092T>G MANE Select NP_689777.3:p.Val2364=