Canonical Allele Identifier: CA193434919
Community Standard Title: NM_001366145.2(TRPM3):c.2875A>G (p.Ile959Val)
Gene: TRPM3 HGNC NCBI
KLF9-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.70598592T>C , CM000671.2:g.70598592T>C GRCh38
NC_000009.11:g.73213508T>C , CM000671.1:g.73213508T>C GRCh37
NC_000009.10:g.72403328T>C NCBI36
NG_047197.1:g.853333A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001366145.2:c.2875A>G (TRPM3) MANE Select NP_001353074.1:p.Ile959Val
ENST00000677713.2:c.2875A>G (TRPM3) MANE Select ENSP00000503830.2:p.Ile959Val
NM_001007471.2:c.2839A>G (TRPM3) NP_001007472.2:p.Ile947Val
NM_001007471.3:c.2839A>G (TRPM3) NP_001007472.2:p.Ile947Val
NM_001007471.4:c.2839A>G (TRPM3) NP_001007472.2:p.Ile947Val
NM_001366141.1:c.2845A>G (TRPM3) NP_001353070.1:p.Ile949Val
NM_001366141.2:c.2845A>G (TRPM3) NP_001353070.1:p.Ile949Val
NM_001366142.1:c.2881A>G (TRPM3) NP_001353071.1:p.Ile961Val
NM_001366142.2:c.2881A>G (TRPM3) NP_001353071.1:p.Ile961Val
NM_001366143.1:c.2845A>G (TRPM3) NP_001353072.1:p.Ile949Val
NM_001366143.2:c.2845A>G (TRPM3) NP_001353072.1:p.Ile949Val
NM_001366145.1:c.2875A>G (TRPM3) NP_001353074.1:p.Ile959Val
NM_001366146.1:c.2875A>G (TRPM3) NP_001353075.1:p.Ile959Val
NM_001366146.2:c.2875A>G (TRPM3) NP_001353075.1:p.Ile959Val
NM_001366147.1:c.2950A>G (TRPM3) NP_001353076.1:p.Ile984Val
NM_001366147.2:c.2950A>G (TRPM3) NP_001353076.1:p.Ile984Val
NM_001366148.1:c.2920A>G (TRPM3) NP_001353077.1:p.Ile974Val
NM_001366148.2:c.2920A>G (TRPM3) NP_001353077.1:p.Ile974Val
NM_001366149.1:c.2845A>G (TRPM3) NP_001353078.1:p.Ile949Val
NM_001366149.2:c.2845A>G (TRPM3) NP_001353078.1:p.Ile949Val
NM_001366150.1:c.2809A>G (TRPM3) NP_001353079.1:p.Ile937Val
NM_001366150.2:c.2809A>G (TRPM3) NP_001353079.1:p.Ile937Val
NM_001366151.1:c.2839A>G (TRPM3) NP_001353080.1:p.Ile947Val
NM_001366151.2:c.2839A>G (TRPM3) NP_001353080.1:p.Ile947Val
NM_001366152.1:c.2950A>G (TRPM3) NP_001353081.1:p.Ile984Val
NM_001366152.2:c.2950A>G (TRPM3) NP_001353081.1:p.Ile984Val
NM_001366154.1:c.2416A>G (TRPM3) NP_001353083.1:p.Ile806Val
NM_001366154.2:c.2416A>G (TRPM3) NP_001353083.1:p.Ile806Val
NM_020952.4:c.2380A>G (TRPM3) NP_066003.3:p.Ile794Val
NM_020952.5:c.2380A>G (TRPM3) NP_066003.3:p.Ile794Val
NM_020952.6:c.2380A>G (TRPM3) NP_066003.3:p.Ile794Val
NM_024971.5:c.2416A>G (TRPM3) NP_079247.5:p.Ile806Val
NM_024971.6:c.2416A>G (TRPM3) NP_079247.5:p.Ile806Val
NM_024971.7:c.2416A>G (TRPM3) NP_079247.5:p.Ile806Val
NM_206944.3:c.2350A>G (TRPM3) NP_996827.3:p.Ile784Val
NM_206944.4:c.2350A>G (TRPM3) NP_996827.3:p.Ile784Val
NM_206944.5:c.2350A>G (TRPM3) NP_996827.3:p.Ile784Val
NM_206945.3:c.2386A>G (TRPM3) NP_996828.3:p.Ile796Val
NM_206945.4:c.2386A>G (TRPM3) NP_996828.3:p.Ile796Val
NM_206945.5:c.2386A>G (TRPM3) NP_996828.3:p.Ile796Val
NM_206946.3:c.2455A>G (TRPM3) NP_996829.3:p.Ile819Val
NM_206946.4:c.2455A>G (TRPM3) NP_996829.3:p.Ile819Val
NM_206946.5:c.2455A>G (TRPM3) NP_996829.3:p.Ile819Val
NM_206947.3:c.2425A>G (TRPM3) NP_996830.3:p.Ile809Val
NM_206947.4:c.2425A>G (TRPM3) NP_996830.3:p.Ile809Val
NM_206947.5:c.2425A>G (TRPM3) NP_996830.3:p.Ile809Val
ENST00000357533.6:c.2851A>G (TRPM3) ENSP00000350140.2:p.Ile951Val
ENST00000358082.7:c.2425A>G (TRPM3) ENSP00000350791.3:p.Ile809Val
ENST00000360823.6:c.2425A>G (TRPM3) ENSP00000354066.2:p.Ile809Val
ENST00000377105.5:c.2416A>G (TRPM3) ENSP00000366309.1:p.Ile806Val
ENST00000377110.7:c.2839A>G (TRPM3) ENSP00000366314.2:p.Ile947Val
ENST00000377110.9:c.2839A>G (TRPM3) ENSP00000366314.4:p.Ile947Val
ENST00000377111.6:c.2839A>G (TRPM3) ENSP00000366315.2:p.Ile947Val
ENST00000377111.8:c.2839A>G (TRPM3) ENSP00000366315.4:p.Ile947Val
ENST00000396280.9:c.2386A>G (TRPM3) ENSP00000379576.5:p.Ile796Val
ENST00000396285.5:c.2380A>G (TRPM3) ENSP00000379581.1:p.Ile794Val
ENST00000396292.8:c.2455A>G (TRPM3) ENSP00000379587.4:p.Ile819Val
ENST00000408909.6:c.2416A>G (TRPM3) ENSP00000386127.2:p.Ile806Val
ENST00000677594.1:c.2416A>G (TRPM3) ENSP00000504011.1:p.Ile806Val
ENST00000704565.1:c.2850A>G (TRPM3) ENSP00000515942.1:n.2850A>G
ENST00000704566.1:c.2503A>G (TRPM3) ENSP00000515943.1:p.Ile835Val
ENST00000704567.1:c.2380A>G (TRPM3) ENSP00000515944.1:p.Ile794Val
ENST00000704568.1:c.2962A>G (TRPM3) ENSP00000515945.1:p.Ile988Val
ENST00000704571.1:n.2791A>G (TRPM3)
ENST00000704573.1:c.2380A>G (TRPM3) ENSP00000515949.1:p.Ile794Val
ENST00000704574.1:c.*1835A>G (TRPM3) ENSP00000515950.1:n.*1835A>G
ENST00000707140.1:c.2773A>G (TRPM3) ENSP00000516762.1:p.Ile925Val
XM_011519035.1:c.2956A>G (TRPM3) XP_011517337.1:p.Ile986Val
XM_011519036.1:c.2950A>G (TRPM3) XP_011517338.1:p.Ile984Val
XM_011519037.1:c.2920A>G (TRPM3) XP_011517339.1:p.Ile974Val
XM_011519037.3:c.2920A>G (TRPM3) XP_011517339.1:p.Ile974Val
XM_011519038.1:c.2914A>G (TRPM3) XP_011517340.1:p.Ile972Val
XM_011519038.3:c.2914A>G (TRPM3) XP_011517340.1:p.Ile972Val
XM_011519039.1:c.2884A>G (TRPM3) XP_011517341.1:p.Ile962Val
XM_011519039.3:c.2884A>G (TRPM3) XP_011517341.1:p.Ile962Val
XM_011519040.1:c.2881A>G (TRPM3) XP_011517342.1:p.Ile961Val
XM_011519040.3:c.2881A>G (TRPM3) XP_011517342.1:p.Ile961Val
XM_011519041.1:c.2875A>G (TRPM3) XP_011517343.1:p.Ile959Val
XM_011519042.1:c.2851A>G (TRPM3) XP_011517344.1:p.Ile951Val
XM_011519042.3:c.2851A>G (TRPM3) XP_011517344.1:p.Ile951Val
XM_011519043.1:c.2845A>G (TRPM3) XP_011517345.1:p.Ile949Val
XM_011519044.1:c.2845A>G (TRPM3) XP_011517346.1:p.Ile949Val
XM_011519045.1:c.2815A>G (TRPM3) XP_011517347.1:p.Ile939Val
XM_011519045.2:c.2815A>G (TRPM3) XP_011517347.1:p.Ile939Val
XM_011519046.1:c.2809A>G (TRPM3) XP_011517348.1:p.Ile937Val
XM_011519046.3:c.2809A>G (TRPM3) XP_011517348.1:p.Ile937Val
XM_011519047.1:c.2839A>G (TRPM3) XP_011517349.1:p.Ile947Val
XM_017015156.1:c.1588A>G (TRPM3) XP_016870645.1:p.Ile530Val
XM_024447681.1:c.1558A>G (TRPM3) XP_024303449.1:p.Ile520Val
XM_024447682.1:c.1552A>G (TRPM3) XP_024303450.1:p.Ile518Val
XM_024447683.1:c.1522A>G (TRPM3) XP_024303451.1:p.Ile508Val
XM_024447684.1:c.1588A>G (TRPM3) XP_024303452.1:p.Ile530Val
XM_024447685.1:c.1558A>G (TRPM3) XP_024303453.1:p.Ile520Val
XM_024447686.1:c.1552A>G (TRPM3) XP_024303454.1:p.Ile518Val
XR_001746712.1:n.819-3415T>C (KLF9-DT)
XR_001746713.1:n.256-3415T>C (KLF9-DT)
XR_001746714.1:n.194-3415T>C (KLF9-DT)
XR_001746715.2:n.214-3415T>C (KLF9-DT)
XR_002956886.1:n.908-3415T>C (KLF9-DT)
XR_002956887.1:n.985-3415T>C (KLF9-DT)
XR_929914.1:n.389-3415T>C (KLF9-DT)