Canonical Allele Identifier: CA3156712801
Community Standard Title: NM_152564.5(VPS13B):c.6655C= (p.Gln2219=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99717371C= , CM000670.2:g.99717371C= GRCh38
NC_000008.10:g.100729599C= , CM000670.1:g.100729599C= GRCh37
NC_000008.9:g.100798775C= NCBI36
NG_007098.2:g.709106C= , LRG_351:g.709106C=

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.6655C= MANE Select NP_689777.3:p.Gln2219=
ENST00000357162.7:c.6655C= MANE Select ENSP00000349685.2:p.Gln2219=
NM_017890.5:c.6730C= MANE Plus Clinical NP_060360.3:p.Gln2244=
ENST00000358544.7:c.6730C= MANE Plus Clinical ENSP00000351346.2:p.Gln2244=
NM_017890.4:c.6730C= , LRG_351t1:c.6730C= NP_060360.3:p.Gln2244=
NM_152564.4:c.6655C= , LRG_351t2:c.6655C= NP_689777.3:p.Gln2219=
ENST00000357162.6:c.6655C= ENSP00000349685.2:p.Gln2219=
ENST00000358544.6:c.6730C= ENSP00000351346.2:p.Gln2244=
ENST00000682153.1:c.6730C= ENSP00000507923.1:p.Gln2244=
ENST00000682358.1:n.6800C=
ENST00000683334.1:c.*2412C= ENSP00000507369.1:n.*2412C=
XM_005250800.2:c.6730C= XP_005250857.1:p.Gln2244=
XM_005250800.3:c.6730C= XP_005250857.1:p.Gln2244=
XM_005250801.3:c.6730C= XP_005250858.1:p.Gln2244=
XM_005250801.5:c.6730C= XP_005250858.1:p.Gln2244=
XM_011516848.1:c.6727C= XP_011515150.1:p.Gln2243=
XM_011516848.2:c.6727C= XP_011515150.1:p.Gln2243=
XM_011516849.1:c.6652C= XP_011515151.1:p.Gln2218=
XM_011516849.2:c.6652C= XP_011515151.1:p.Gln2218=
XM_011516850.1:c.6352C= XP_011515152.1:p.Gln2118=
XM_011516850.2:c.6352C= XP_011515152.1:p.Gln2118=
XM_011516851.1:c.3616C= XP_011515153.1:p.Gln1206=
XM_011516851.2:c.3616C= XP_011515153.1:p.Gln1206=
XM_011516852.1:c.3616C= XP_011515154.1:p.Gln1206=
XM_011516852.2:c.3616C= XP_011515154.1:p.Gln1206=
XM_011516853.1:c.6730C= XP_011515155.1:p.Gln2244=
XM_011516853.2:c.6730C= XP_011515155.1:p.Gln2244=
XM_011516854.1:c.2509C= XP_011515156.1:p.Gln837=
XM_011516854.2:c.2509C= XP_011515156.1:p.Gln837=
XM_017013109.1:c.6535C= XP_016868598.1:p.Gln2179=
XM_017013111.1:c.3616C= XP_016868600.1:p.Gln1206=
XM_017013112.1:c.2287C= XP_016868601.1:p.Gln763=
XM_024447074.1:c.5515C= XP_024302842.1:p.Gln1839=