Canonical Allele Identifier: CA7450689
Community Standard Title: NM_014967.5(FAN1):c.2577C>T (p.Phe859=)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30928641C>T , CM000677.2:g.30928641C>T GRCh38
NC_000015.9:g.31220844C>T , CM000677.1:g.31220844C>T GRCh37
NC_000015.8:g.29008136C>T NCBI36
NG_032946.1:g.29790C>T
NG_032946.2:g.29790C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2577C>T (FAN1) MANE Select NP_055782.3:p.Phe859=
ENST00000362065.9:c.2577C>T (FAN1) MANE Select ENSP00000354497.4:p.Phe859=
NM_014967.4:c.2577C>T (FAN1) NP_055782.3:p.Phe859=
ENST00000362065.8:c.2577C>T (FAN1) ENSP00000354497.4:p.Phe859=
ENST00000562881.1:n.218C>T (FAN1)
ENST00000562881.2:n.4158C>T (FAN1)
ENST00000565280.5:c.*1418C>T (FAN1) ENSP00000455573.1:n.*1418C>T
ENST00000568145.5:n.529C>T (FAN1)
ENST00000654056.1:c.*421C>T (FAN1) ENSP00000499726.1:n.*421C>T
ENST00000655421.1:n.5958C>T (FAN1)
ENST00000656307.1:n.5442C>T (FAN1)
ENST00000656435.1:c.2577C>T (FAN1) ENSP00000499534.1:p.Phe859=
ENST00000657391.1:c.2577C>T (FAN1) ENSP00000499703.1:p.Phe859=
ENST00000661974.1:c.4482C>T (FAN1)
ENST00000664070.1:c.*2117C>T (FAN1) ENSP00000499478.1:n.*2117C>T
ENST00000664837.1:c.1287C>T (FAN1) ENSP00000499780.1:p.Phe429=
ENST00000667837.1:n.2389C>T (FAN1)
ENST00000670074.1:c.*1319C>T (FAN1) ENSP00000499252.1:n.*1319C>T
ENST00000670849.1:c.2577C>T (FAN1) ENSP00000499638.1:p.Phe859=
XM_005254232.3:c.2577C>T (FAN1) XP_005254289.1:p.Phe859=
XM_005254232.4:c.2577C>T (FAN1) XP_005254289.1:p.Phe859=
XM_005254234.3:c.2577C>T (FAN1) XP_005254291.1:p.Phe859=
XM_005254234.5:c.2577C>T (FAN1) XP_005254291.1:p.Phe859=
XM_005254235.3:c.2577C>T (FAN1) XP_005254292.1:p.Phe859=
XM_011521370.1:c.1395C>T (FAN1) XP_011519672.1:p.Phe465=
XM_011521370.2:c.1395C>T (FAN1) XP_011519672.1:p.Phe465=
XM_011521371.1:c.1392C>T (FAN1) XP_011519673.1:p.Phe464=
XM_011521736.1:c.*68G>A (MTMR10) XP_011520038.1:n.*68G>A
XM_011521737.1:c.1549-8718G>A (MTMR10) XP_011520039.1:n.1549-8718G>A
XM_011521737.3:c.1549-8718G>A (MTMR10) XP_011520039.1:n.1549-8718G>A
XM_017022012.2:c.906C>T (FAN1) XP_016877501.1:p.Phe302=
XM_017022013.1:c.906C>T (FAN1) XP_016877502.1:p.Phe302=
XM_024449874.1:c.1392C>T (FAN1) XP_024305642.1:p.Phe464=
XR_001751149.1:n.4821C>T (FAN1)
XR_001751151.1:n.4817C>T (FAN1)