Canonical Allele Identifier: CA3156098646
Community Standard Title: NM_152564.5(VPS13B):c.6503T= (p.Leu2168=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99717219T= , CM000670.2:g.99717219T= GRCh38
NC_000008.10:g.100729447T= , CM000670.1:g.100729447T= GRCh37
NC_000008.9:g.100798623T= NCBI36
NG_007098.2:g.708954T= , LRG_351:g.708954T=

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.6503T= MANE Select NP_689777.3:p.Leu2168=
ENST00000357162.7:c.6503T= MANE Select ENSP00000349685.2:p.Leu2168=
NM_017890.5:c.6578T= MANE Plus Clinical NP_060360.3:p.Leu2193=
ENST00000358544.7:c.6578T= MANE Plus Clinical ENSP00000351346.2:p.Leu2193=
NM_017890.4:c.6578T= , LRG_351t1:c.6578T= NP_060360.3:p.Leu2193=
NM_152564.4:c.6503T= , LRG_351t2:c.6503T= NP_689777.3:p.Leu2168=
ENST00000357162.6:c.6503T= ENSP00000349685.2:p.Leu2168=
ENST00000358544.6:c.6578T= ENSP00000351346.2:p.Leu2193=
ENST00000682153.1:c.6578T= ENSP00000507923.1:p.Leu2193=
ENST00000682358.1:n.6648T=
ENST00000683334.1:c.*2260T= ENSP00000507369.1:n.*2260T=
XM_005250800.2:c.6578T= XP_005250857.1:p.Leu2193=
XM_005250800.3:c.6578T= XP_005250857.1:p.Leu2193=
XM_005250801.3:c.6578T= XP_005250858.1:p.Leu2193=
XM_005250801.5:c.6578T= XP_005250858.1:p.Leu2193=
XM_011516848.1:c.6575T= XP_011515150.1:p.Leu2192=
XM_011516848.2:c.6575T= XP_011515150.1:p.Leu2192=
XM_011516849.1:c.6500T= XP_011515151.1:p.Leu2167=
XM_011516849.2:c.6500T= XP_011515151.1:p.Leu2167=
XM_011516850.1:c.6200T= XP_011515152.1:p.Leu2067=
XM_011516850.2:c.6200T= XP_011515152.1:p.Leu2067=
XM_011516851.1:c.3464T= XP_011515153.1:p.Leu1155=
XM_011516851.2:c.3464T= XP_011515153.1:p.Leu1155=
XM_011516852.1:c.3464T= XP_011515154.1:p.Leu1155=
XM_011516852.2:c.3464T= XP_011515154.1:p.Leu1155=
XM_011516853.1:c.6578T= XP_011515155.1:p.Leu2193=
XM_011516853.2:c.6578T= XP_011515155.1:p.Leu2193=
XM_011516854.1:c.2357T= XP_011515156.1:p.Leu786=
XM_011516854.2:c.2357T= XP_011515156.1:p.Leu786=
XM_017013109.1:c.6383T= XP_016868598.1:p.Leu2128=
XM_017013111.1:c.3464T= XP_016868600.1:p.Leu1155=
XM_017013112.1:c.2135T= XP_016868601.1:p.Leu712=
XM_024447074.1:c.5363T= XP_024302842.1:p.Leu1788=