Canonical Allele Identifier: CA4415425
Gene: FBXL13 HGNC NCBI
FAM185A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.102822175G>A , CM000669.2:g.102822175G>A GRCh38
NC_000007.13:g.102462622G>A , CM000669.1:g.102462622G>A GRCh37
NC_000007.12:g.102249858G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394494.2:c.2153C>T (FBXL13) MANE Select NP_001381423.1:p.Ser718Leu
ENST00000440067.4:c.2153C>T (FBXL13) MANE Select ENSP00000390126.2:p.Ser718Leu
NM_001111038.1:c.1748C>T (FBXL13) NP_001104508.1:p.Ser583Leu
NM_001111038.2:c.1748C>T (FBXL13) NP_001104508.1:p.Ser583Leu
NM_001287150.1:c.1799C>T (FBXL13) NP_001274079.1:p.Ser600Leu
NM_001287150.2:c.1799C>T (FBXL13) NP_001274079.1:p.Ser600Leu
NM_145032.3:c.1883C>T (FBXL13) NP_659469.3:p.Ser628Leu
NR_105043.1:n.2147C>T (FBXL13)
NR_105043.2:n.2102C>T (FBXL13)
NR_146979.1:n.911+13824G>A (FAM185A)
NR_146979.2:n.864+13824G>A (FAM185A)
NR_146979.3:n.864+13824G>A (FAM185A)
NR_146981.1:n.1143+13824G>A (FAM185A)
NR_146981.2:n.1096+13824G>A (FAM185A)
NR_146981.3:n.1096+13824G>A (FAM185A)
NR_146982.1:n.1101+13824G>A (FAM185A)
NR_146982.2:n.1054+13824G>A (FAM185A)
NR_146982.3:n.1054+13824G>A (FAM185A)
NR_146984.1:n.1143+13824G>A (FAM185A)
NR_146984.2:n.1096+13824G>A (FAM185A)
NR_146984.3:n.1096+13824G>A (FAM185A)
NR_146986.1:n.1362+13824G>A (FAM185A)
NR_146986.2:n.1315+13824G>A (FAM185A)
NR_146986.3:n.1315+13824G>A (FAM185A)
ENST00000313221.8:c.1883C>T (FBXL13) ENSP00000321927.4:p.Ser628Leu
ENST00000379305.7:c.1799C>T (FBXL13) ENSP00000368607.3:p.Ser600Leu
ENST00000379308.7:c.*21C>T (FBXL13) ENSP00000368610.4:n.*21C>T
ENST00000436908.5:c.1883C>T (FBXL13) ENSP00000388608.1:p.Ser628Leu
ENST00000448002.6:c.*21C>T (FBXL13) ENSP00000405434.2:n.*21C>T
ENST00000455112.6:c.1748C>T (FBXL13) ENSP00000391550.2:p.Ser583Leu
ENST00000455112.7:c.1927C>T (FBXL13) ENSP00000391550.3:n.1927C>T
ENST00000456695.5:c.1037C>T (FBXL13) ENSP00000409716.1:p.Ser346Leu
ENST00000456695.6:c.1216C>T (FBXL13) ENSP00000409716.2:n.1216C>T
ENST00000694870.1:c.1295C>T (FBXL13) ENSP00000511553.1:p.Ser432Leu
ENST00000694871.1:c.1430C>T (FBXL13) ENSP00000511554.1:p.Ser477Leu
XM_005250205.2:c.2153C>T (FBXL13) XP_005250262.1:p.Ser718Leu
XM_005250205.4:c.2153C>T (FBXL13) XP_005250262.1:p.Ser718Leu
XM_005250207.2:c.2054C>T (FBXL13) XP_005250264.1:p.Ser685Leu
XM_005250207.4:c.2054C>T (FBXL13) XP_005250264.1:p.Ser685Leu
XM_005250208.2:c.2018C>T (FBXL13) XP_005250265.1:p.Ser673Leu
XM_005250208.4:c.2018C>T (FBXL13) XP_005250265.1:p.Ser673Leu
XM_005250209.1:c.1883C>T (FBXL13) XP_005250266.1:p.Ser628Leu
XM_005250209.2:c.1883C>T (FBXL13) XP_005250266.1:p.Ser628Leu
XM_006715896.2:c.1128+13824G>A (FAM185A) XP_006715959.1:n.1128+13824G>A
XM_006715896.4:c.1128+13824G>A (FAM185A) XP_006715959.1:n.1128+13824G>A
XM_006715898.1:c.1430C>T (FBXL13) XP_006715961.1:p.Ser477Leu
XM_006715898.3:c.1430C>T (FBXL13) XP_006715961.1:p.Ser477Leu
XM_011515922.1:c.1128+13824G>A (FAM185A) XP_011514224.1:n.1128+13824G>A
XM_011515922.3:c.1128+13824G>A (FAM185A) XP_011514224.1:n.1128+13824G>A
XM_011515923.1:c.1128+13824G>A (FAM185A) XP_011514225.1:n.1128+13824G>A
XM_011515923.2:c.1128+13824G>A (FAM185A) XP_011514225.1:n.1128+13824G>A
XM_011515924.1:c.1128+13824G>A (FAM185A) XP_011514226.1:n.1128+13824G>A
XM_011515924.3:c.1128+13824G>A (FAM185A) XP_011514226.1:n.1128+13824G>A
XM_011515925.1:c.1086+13824G>A (FAM185A) XP_011514227.1:n.1086+13824G>A
XM_011515925.3:c.1086+13824G>A (FAM185A) XP_011514227.1:n.1086+13824G>A
XM_011515926.1:c.1129-4917G>A (FAM185A) XP_011514228.1:n.1129-4917G>A
XM_011515926.3:c.1129-4917G>A (FAM185A) XP_011514228.1:n.1129-4917G>A
XM_011515928.1:c.2069C>T (FBXL13) XP_011514230.1:p.Ser690Leu
XM_011515928.3:c.2069C>T (FBXL13) XP_011514230.1:p.Ser690Leu
XM_011515929.1:c.2153C>T (FBXL13) XP_011514231.1:p.Ser718Leu
XM_011515929.3:c.2153C>T (FBXL13) XP_011514231.1:p.Ser718Leu
XM_011515930.1:c.1883C>T (FBXL13) XP_011514232.1:p.Ser628Leu
XM_011515930.2:c.1883C>T (FBXL13) XP_011514232.1:p.Ser628Leu
XM_011515931.1:c.1883C>T (FBXL13) XP_011514233.1:p.Ser628Leu
XM_017011846.2:c.1128+13824G>A (FAM185A) XP_016867335.1:n.1128+13824G>A
XM_017011847.2:c.1086+13824G>A (FAM185A) XP_016867336.1:n.1086+13824G>A
XM_017011848.2:c.1128+13824G>A (FAM185A) XP_016867337.1:n.1128+13824G>A
XM_017011849.1:c.1086+13824G>A (FAM185A) XP_016867338.1:n.1086+13824G>A
XM_017011850.2:c.2144C>T (FBXL13) XP_016867339.1:p.Ser715Leu
XM_017011851.2:c.2153C>T (FBXL13) XP_016867340.1:p.Ser718Leu
XM_017011852.1:c.2018C>T (FBXL13) XP_016867341.1:p.Ser673Leu
XM_017011853.1:c.1883C>T (FBXL13) XP_016867342.1:p.Ser628Leu
XM_024446687.1:c.1295C>T (FBXL13) XP_024302455.1:p.Ser432Leu
XR_927406.1:n.2156C>T (FBXL13)
XR_927408.1:n.2156C>T (FBXL13)
XR_927408.3:n.2599C>T (FBXL13)
XR_927409.1:n.2156C>T (FBXL13)