Canonical Allele Identifier: CA7450738

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30929324C>T , CM000677.2:g.30929324C>T GRCh38
NC_000015.9:g.31221527C>T , CM000677.1:g.31221527C>T GRCh37
NC_000015.8:g.29008819C>T NCBI36
NG_032946.1:g.30473C>T
NG_032946.2:g.30473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2714C>T (FAN1) MANE Select ENSP00000354497.4:p.Thr905Met
ENST00000562881.2:n.4841C>T (FAN1)
ENST00000654056.1:c.*558C>T (FAN1) ENSP00000499726.1:n.*558C>T
ENST00000655421.1:n.6095C>T (FAN1)
ENST00000656307.1:n.5579C>T (FAN1)
ENST00000656435.1:c.2714C>T (FAN1) ENSP00000499534.1:p.Thr905Met
ENST00000657391.1:c.2714C>T (FAN1) ENSP00000499703.1:p.Thr905Met
ENST00000661974.1:c.4619C>T (FAN1)
ENST00000664070.1:c.*2254C>T (FAN1) ENSP00000499478.1:n.*2254C>T
ENST00000664837.1:c.1424C>T (FAN1) ENSP00000499780.1:p.Thr475Met
ENST00000667837.1:n.2526C>T (FAN1)
ENST00000670074.1:c.*1456C>T (FAN1) ENSP00000499252.1:n.*1456C>T
ENST00000670849.1:c.2714C>T (FAN1) ENSP00000499638.1:p.Thr905Met
ENST00000362065.8:c.2714C>T (FAN1) ENSP00000354497.4:p.Thr905Met
ENST00000562881.1:n.355C>T (FAN1)
ENST00000565280.5:c.*1555C>T (FAN1) ENSP00000455573.1:n.*1555C>T
ENST00000568145.5:n.666C>T (FAN1)
NM_014967.4:c.2714C>T (FAN1) NP_055782.3:p.Thr905Met
XM_005254232.3:c.2714C>T (FAN1) XP_005254289.1:p.Thr905Met
XM_005254234.3:c.2714C>T (FAN1) XP_005254291.1:p.Thr905Met
XM_005254235.3:c.2714C>T (FAN1) XP_005254292.1:p.Thr905Met
XM_011521370.1:c.1532C>T (FAN1) XP_011519672.1:p.Thr511Met
XM_011521371.1:c.1529C>T (FAN1) XP_011519673.1:p.Thr510Met
XM_011521736.1:c.1549-514G>A (MTMR10) XP_011520038.1:n.1549-514G>A
XM_011521737.1:c.1549-9401G>A (MTMR10) XP_011520039.1:n.1549-9401G>A
XM_005254232.4:c.2714C>T (FAN1) XP_005254289.1:p.Thr905Met
XM_005254234.5:c.2714C>T (FAN1) XP_005254291.1:p.Thr905Met
XM_011521370.2:c.1532C>T (FAN1) XP_011519672.1:p.Thr511Met
XM_011521737.3:c.1549-9401G>A (MTMR10) XP_011520039.1:n.1549-9401G>A
XM_017022012.2:c.1043C>T (FAN1) XP_016877501.1:p.Thr348Met
XM_017022013.1:c.1043C>T (FAN1) XP_016877502.1:p.Thr348Met
XM_024449874.1:c.1529C>T (FAN1) XP_024305642.1:p.Thr510Met
XR_001751149.1:n.4958C>T (FAN1)
XR_001751151.1:n.4954C>T (FAN1)
NM_014967.5:c.2714C>T (FAN1) MANE Select NP_055782.3:p.Thr905Met