Canonical Allele Identifier: CA7450679

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30928589A>G , CM000677.2:g.30928589A>G GRCh38
NC_000015.9:g.31220792A>G , CM000677.1:g.31220792A>G GRCh37
NC_000015.8:g.29008084A>G NCBI36
NG_032946.1:g.29738A>G
NG_032946.2:g.29738A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2525A>G (FAN1) MANE Select ENSP00000354497.4:p.Tyr842Cys
ENST00000562881.2:n.4106A>G (FAN1)
ENST00000654056.1:c.*369A>G (FAN1) ENSP00000499726.1:n.*369A>G
ENST00000655421.1:n.5906A>G (FAN1)
ENST00000656307.1:n.5390A>G (FAN1)
ENST00000656435.1:c.2525A>G (FAN1) ENSP00000499534.1:p.Tyr842Cys
ENST00000657391.1:c.2525A>G (FAN1) ENSP00000499703.1:p.Tyr842Cys
ENST00000661974.1:c.4430A>G (FAN1)
ENST00000664070.1:c.*2065A>G (FAN1) ENSP00000499478.1:n.*2065A>G
ENST00000664837.1:c.1235A>G (FAN1) ENSP00000499780.1:p.Tyr412Cys
ENST00000667837.1:n.2337A>G (FAN1)
ENST00000670074.1:c.*1267A>G (FAN1) ENSP00000499252.1:n.*1267A>G
ENST00000670849.1:c.2525A>G (FAN1) ENSP00000499638.1:p.Tyr842Cys
ENST00000362065.8:c.2525A>G (FAN1) ENSP00000354497.4:p.Tyr842Cys
ENST00000562881.1:n.166A>G (FAN1)
ENST00000565280.5:c.*1366A>G (FAN1) ENSP00000455573.1:n.*1366A>G
ENST00000568145.5:n.477A>G (FAN1)
NM_014967.4:c.2525A>G (FAN1) NP_055782.3:p.Tyr842Cys
XM_005254232.3:c.2525A>G (FAN1) XP_005254289.1:p.Tyr842Cys
XM_005254234.3:c.2525A>G (FAN1) XP_005254291.1:p.Tyr842Cys
XM_005254235.3:c.2525A>G (FAN1) XP_005254292.1:p.Tyr842Cys
XM_011521370.1:c.1343A>G (FAN1) XP_011519672.1:p.Tyr448Cys
XM_011521371.1:c.1340A>G (FAN1) XP_011519673.1:p.Tyr447Cys
XM_011521736.1:c.*120T>C (MTMR10) XP_011520038.1:n.*120T>C
XM_011521737.1:c.1549-8666T>C (MTMR10) XP_011520039.1:n.1549-8666T>C
XM_005254232.4:c.2525A>G (FAN1) XP_005254289.1:p.Tyr842Cys
XM_005254234.5:c.2525A>G (FAN1) XP_005254291.1:p.Tyr842Cys
XM_011521370.2:c.1343A>G (FAN1) XP_011519672.1:p.Tyr448Cys
XM_011521737.3:c.1549-8666T>C (MTMR10) XP_011520039.1:n.1549-8666T>C
XM_017022012.2:c.854A>G (FAN1) XP_016877501.1:p.Tyr285Cys
XM_017022013.1:c.854A>G (FAN1) XP_016877502.1:p.Tyr285Cys
XM_024449874.1:c.1340A>G (FAN1) XP_024305642.1:p.Tyr447Cys
XR_001751149.1:n.4769A>G (FAN1)
XR_001751151.1:n.4765A>G (FAN1)
NM_014967.5:c.2525A>G (FAN1) MANE Select NP_055782.3:p.Tyr842Cys