Canonical Allele Identifier: CA7450694
Community Standard Title: NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30928654C>T , CM000677.2:g.30928654C>T GRCh38
NC_000015.9:g.31220857C>T , CM000677.1:g.31220857C>T GRCh37
NC_000015.8:g.29008149C>T NCBI36
NG_032946.1:g.29803C>T
NG_032946.2:g.29803C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2590C>T (FAN1) MANE Select NP_055782.3:p.Gln864Ter
ENST00000362065.9:c.2590C>T (FAN1) MANE Select ENSP00000354497.4:p.Gln864Ter
NM_014967.4:c.2590C>T (FAN1) NP_055782.3:p.Gln864Ter
ENST00000362065.8:c.2590C>T (FAN1) ENSP00000354497.4:p.Gln864Ter
ENST00000562881.1:n.231C>T (FAN1)
ENST00000562881.2:n.4171C>T (FAN1)
ENST00000565280.5:c.*1431C>T (FAN1) ENSP00000455573.1:n.*1431C>T
ENST00000568145.5:n.542C>T (FAN1)
ENST00000654056.1:c.*434C>T (FAN1) ENSP00000499726.1:n.*434C>T
ENST00000655421.1:n.5971C>T (FAN1)
ENST00000656307.1:n.5455C>T (FAN1)
ENST00000656435.1:c.2590C>T (FAN1) ENSP00000499534.1:p.Gln864Ter
ENST00000657391.1:c.2590C>T (FAN1) ENSP00000499703.1:p.Gln864Ter
ENST00000661974.1:c.4495C>T (FAN1)
ENST00000664070.1:c.*2130C>T (FAN1) ENSP00000499478.1:n.*2130C>T
ENST00000664837.1:c.1300C>T (FAN1) ENSP00000499780.1:p.Gln434Ter
ENST00000667837.1:n.2402C>T (FAN1)
ENST00000670074.1:c.*1332C>T (FAN1) ENSP00000499252.1:n.*1332C>T
ENST00000670849.1:c.2590C>T (FAN1) ENSP00000499638.1:p.Gln864Ter
XM_005254232.3:c.2590C>T (FAN1) XP_005254289.1:p.Gln864Ter
XM_005254232.4:c.2590C>T (FAN1) XP_005254289.1:p.Gln864Ter
XM_005254234.3:c.2590C>T (FAN1) XP_005254291.1:p.Gln864Ter
XM_005254234.5:c.2590C>T (FAN1) XP_005254291.1:p.Gln864Ter
XM_005254235.3:c.2590C>T (FAN1) XP_005254292.1:p.Gln864Ter
XM_011521370.1:c.1408C>T (FAN1) XP_011519672.1:p.Gln470Ter
XM_011521370.2:c.1408C>T (FAN1) XP_011519672.1:p.Gln470Ter
XM_011521371.1:c.1405C>T (FAN1) XP_011519673.1:p.Gln469Ter
XM_011521736.1:c.*55G>A (MTMR10) XP_011520038.1:n.*55G>A
XM_011521737.1:c.1549-8731G>A (MTMR10) XP_011520039.1:n.1549-8731G>A
XM_011521737.3:c.1549-8731G>A (MTMR10) XP_011520039.1:n.1549-8731G>A
XM_017022012.2:c.919C>T (FAN1) XP_016877501.1:p.Gln307Ter
XM_017022013.1:c.919C>T (FAN1) XP_016877502.1:p.Gln307Ter
XM_024449874.1:c.1405C>T (FAN1) XP_024305642.1:p.Gln469Ter
XR_001751149.1:n.4834C>T (FAN1)
XR_001751151.1:n.4830C>T (FAN1)