Canonical Allele Identifier: CA391518236
Community Standard Title: NM_014967.5(FAN1):c.2786A>C (p.Gln929Pro)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30929396A>C , CM000677.2:g.30929396A>C GRCh38
NC_000015.9:g.31221599A>C , CM000677.1:g.31221599A>C GRCh37
NC_000015.8:g.29008891A>C NCBI36
NG_032946.1:g.30545A>C
NG_032946.2:g.30545A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2786A>C (FAN1) MANE Select NP_055782.3:p.Gln929Pro
ENST00000362065.9:c.2786A>C (FAN1) MANE Select ENSP00000354497.4:p.Gln929Pro
NM_014967.4:c.2786A>C (FAN1) NP_055782.3:p.Gln929Pro
ENST00000362065.8:c.2786A>C (FAN1) ENSP00000354497.4:p.Gln929Pro
ENST00000562881.1:n.427A>C (FAN1)
ENST00000562881.2:n.4913A>C (FAN1)
ENST00000565280.5:c.*1627A>C (FAN1) ENSP00000455573.1:n.*1627A>C
ENST00000568145.5:n.738A>C (FAN1)
ENST00000654056.1:c.*630A>C (FAN1) ENSP00000499726.1:n.*630A>C
ENST00000655421.1:n.6167A>C (FAN1)
ENST00000656307.1:n.5651A>C (FAN1)
ENST00000656435.1:c.2786A>C (FAN1) ENSP00000499534.1:p.Gln929Pro
ENST00000657391.1:c.2786A>C (FAN1) ENSP00000499703.1:p.Gln929Pro
ENST00000661974.1:c.4691A>C (FAN1)
ENST00000664070.1:c.*2326A>C (FAN1) ENSP00000499478.1:n.*2326A>C
ENST00000664837.1:c.1496A>C (FAN1) ENSP00000499780.1:p.Gln499Pro
ENST00000667837.1:n.2598A>C (FAN1)
ENST00000670074.1:c.*1528A>C (FAN1) ENSP00000499252.1:n.*1528A>C
ENST00000670849.1:c.2786A>C (FAN1) ENSP00000499638.1:p.Gln929Pro
XM_005254232.3:c.2786A>C (FAN1) XP_005254289.1:p.Gln929Pro
XM_005254232.4:c.2786A>C (FAN1) XP_005254289.1:p.Gln929Pro
XM_005254234.3:c.2786A>C (FAN1) XP_005254291.1:p.Gln929Pro
XM_005254234.5:c.2786A>C (FAN1) XP_005254291.1:p.Gln929Pro
XM_005254235.3:c.2786A>C (FAN1) XP_005254292.1:p.Gln929Pro
XM_011521370.1:c.1604A>C (FAN1) XP_011519672.1:p.Gln535Pro
XM_011521370.2:c.1604A>C (FAN1) XP_011519672.1:p.Gln535Pro
XM_011521371.1:c.1601A>C (FAN1) XP_011519673.1:p.Gln534Pro
XM_011521736.1:c.1549-586T>G (MTMR10) XP_011520038.1:n.1549-586T>G
XM_011521737.1:c.1549-9473T>G (MTMR10) XP_011520039.1:n.1549-9473T>G
XM_011521737.3:c.1549-9473T>G (MTMR10) XP_011520039.1:n.1549-9473T>G
XM_017022012.2:c.1115A>C (FAN1) XP_016877501.1:p.Gln372Pro
XM_017022013.1:c.1115A>C (FAN1) XP_016877502.1:p.Gln372Pro
XM_024449874.1:c.1601A>C (FAN1) XP_024305642.1:p.Gln534Pro
XR_001751149.1:n.5030A>C (FAN1)
XR_001751151.1:n.5026A>C (FAN1)