Canonical Allele Identifier: CA3156712800
Community Standard Title: NM_152564.5(VPS13B):c.6470C= (p.Ser2157=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99717186C= , CM000670.2:g.99717186C= GRCh38
NC_000008.10:g.100729414C= , CM000670.1:g.100729414C= GRCh37
NC_000008.9:g.100798590C= NCBI36
NG_007098.2:g.708921C= , LRG_351:g.708921C=

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.6470C= MANE Select NP_689777.3:p.Ser2157=
ENST00000357162.7:c.6470C= MANE Select ENSP00000349685.2:p.Ser2157=
NM_017890.5:c.6545C= MANE Plus Clinical NP_060360.3:p.Ser2182=
ENST00000358544.7:c.6545C= MANE Plus Clinical ENSP00000351346.2:p.Ser2182=
NM_017890.4:c.6545C= , LRG_351t1:c.6545C= NP_060360.3:p.Ser2182=
NM_152564.4:c.6470C= , LRG_351t2:c.6470C= NP_689777.3:p.Ser2157=
ENST00000357162.6:c.6470C= ENSP00000349685.2:p.Ser2157=
ENST00000358544.6:c.6545C= ENSP00000351346.2:p.Ser2182=
ENST00000682153.1:c.6545C= ENSP00000507923.1:p.Ser2182=
ENST00000682358.1:n.6615C=
ENST00000683334.1:c.*2227C= ENSP00000507369.1:n.*2227C=
XM_005250800.2:c.6545C= XP_005250857.1:p.Ser2182=
XM_005250800.3:c.6545C= XP_005250857.1:p.Ser2182=
XM_005250801.3:c.6545C= XP_005250858.1:p.Ser2182=
XM_005250801.5:c.6545C= XP_005250858.1:p.Ser2182=
XM_011516848.1:c.6542C= XP_011515150.1:p.Ser2181=
XM_011516848.2:c.6542C= XP_011515150.1:p.Ser2181=
XM_011516849.1:c.6467C= XP_011515151.1:p.Ser2156=
XM_011516849.2:c.6467C= XP_011515151.1:p.Ser2156=
XM_011516850.1:c.6167C= XP_011515152.1:p.Ser2056=
XM_011516850.2:c.6167C= XP_011515152.1:p.Ser2056=
XM_011516851.1:c.3431C= XP_011515153.1:p.Ser1144=
XM_011516851.2:c.3431C= XP_011515153.1:p.Ser1144=
XM_011516852.1:c.3431C= XP_011515154.1:p.Ser1144=
XM_011516852.2:c.3431C= XP_011515154.1:p.Ser1144=
XM_011516853.1:c.6545C= XP_011515155.1:p.Ser2182=
XM_011516853.2:c.6545C= XP_011515155.1:p.Ser2182=
XM_011516854.1:c.2324C= XP_011515156.1:p.Ser775=
XM_011516854.2:c.2324C= XP_011515156.1:p.Ser775=
XM_017013109.1:c.6350C= XP_016868598.1:p.Ser2117=
XM_017013111.1:c.3431C= XP_016868600.1:p.Ser1144=
XM_017013112.1:c.2102C= XP_016868601.1:p.Ser701=
XM_024447074.1:c.5330C= XP_024302842.1:p.Ser1777=