Canonical Allele Identifier: CA2167739801
Community Standard Title: NM_014967.5(FAN1):c.2245C= (p.Arg749=)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30925199C= , CM000677.2:g.30925199C= GRCh38
NC_000015.9:g.31217402C= , CM000677.1:g.31217402C= GRCh37
NC_000015.8:g.29004694C= NCBI36
NG_032946.1:g.26348C=
NG_032946.2:g.26348C=

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2245C= (FAN1) MANE Select NP_055782.3:p.Arg749=
ENST00000362065.9:c.2245C= (FAN1) MANE Select ENSP00000354497.4:p.Arg749=
NM_014967.4:c.2245C= (FAN1) NP_055782.3:p.Arg749=
ENST00000362065.8:c.2245C= (FAN1) ENSP00000354497.4:p.Arg749=
ENST00000562881.2:n.716C= (FAN1)
ENST00000565280.5:c.*1086C= (FAN1) ENSP00000455573.1:n.*1086C=
ENST00000568145.5:n.197C= (FAN1)
ENST00000568145.6:n.1121C= (FAN1)
ENST00000602886.2:n.2422C= (FAN1)
ENST00000654056.1:c.*89C= (FAN1) ENSP00000499726.1:n.*89C=
ENST00000655421.1:n.2516C= (FAN1)
ENST00000656307.1:n.2497C= (FAN1)
ENST00000656435.1:c.2245C= (FAN1) ENSP00000499534.1:p.Arg749=
ENST00000657391.1:c.2245C= (FAN1) ENSP00000499703.1:p.Arg749=
ENST00000661974.1:c.1537C= (FAN1)
ENST00000664070.1:c.*1785C= (FAN1) ENSP00000499478.1:n.*1785C=
ENST00000664837.1:c.955C= (FAN1) ENSP00000499780.1:p.Arg319=
ENST00000667837.1:n.2057C= (FAN1)
ENST00000670074.1:c.*987C= (FAN1) ENSP00000499252.1:n.*987C=
ENST00000670849.1:c.2245C= (FAN1) ENSP00000499638.1:p.Arg749=
XM_005254232.3:c.2245C= (FAN1) XP_005254289.1:p.Arg749=
XM_005254232.4:c.2245C= (FAN1) XP_005254289.1:p.Arg749=
XM_005254234.3:c.2245C= (FAN1) XP_005254291.1:p.Arg749=
XM_005254234.5:c.2245C= (FAN1) XP_005254291.1:p.Arg749=
XM_005254235.3:c.2245C= (FAN1) XP_005254292.1:p.Arg749=
XM_005254236.2:c.2245C= (FAN1) XP_005254293.1:p.Arg749=
XM_011521370.1:c.1063C= (FAN1) XP_011519672.1:p.Arg355=
XM_011521370.2:c.1063C= (FAN1) XP_011519672.1:p.Arg355=
XM_011521371.1:c.1060C= (FAN1) XP_011519673.1:p.Arg354=
XM_011521737.1:c.1549-5276G= (MTMR10) XP_011520039.1:n.1549-5276G=
XM_011521737.3:c.1549-5276G= (MTMR10) XP_011520039.1:n.1549-5276G=
XM_017022012.2:c.574C= (FAN1) XP_016877501.1:p.Arg192=
XM_017022013.1:c.574C= (FAN1) XP_016877502.1:p.Arg192=
XM_024449874.1:c.1060C= (FAN1) XP_024305642.1:p.Arg354=
XR_001751149.1:n.2544C= (FAN1)
XR_001751151.1:n.2540C= (FAN1)