Canonical Allele Identifier: CA373554924
Community Standard Title: NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
Gene: TRPM3 HGNC NCBI
KLF9-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.70598463C>T , CM000671.2:g.70598463C>T GRCh38
NC_000009.11:g.73213379C>T , CM000671.1:g.73213379C>T GRCh37
NC_000009.10:g.72403199C>T NCBI36
NG_047197.1:g.853462G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001366145.2:c.3004G>A (TRPM3) MANE Select NP_001353074.1:p.Val1002Met
ENST00000677713.2:c.3004G>A (TRPM3) MANE Select ENSP00000503830.2:p.Val1002Met
NM_001007471.2:c.2968G>A (TRPM3) NP_001007472.2:p.Val990Met
NM_001007471.3:c.2968G>A (TRPM3) NP_001007472.2:p.Val990Met
NM_001007471.4:c.2968G>A (TRPM3) NP_001007472.2:p.Val990Met
NM_001366141.1:c.2974G>A (TRPM3) NP_001353070.1:p.Val992Met
NM_001366141.2:c.2974G>A (TRPM3) NP_001353070.1:p.Val992Met
NM_001366142.1:c.3010G>A (TRPM3) NP_001353071.1:p.Val1004Met
NM_001366142.2:c.3010G>A (TRPM3) NP_001353071.1:p.Val1004Met
NM_001366143.1:c.2974G>A (TRPM3) NP_001353072.1:p.Val992Met
NM_001366143.2:c.2974G>A (TRPM3) NP_001353072.1:p.Val992Met
NM_001366145.1:c.3004G>A (TRPM3) NP_001353074.1:p.Val1002Met
NM_001366146.1:c.3004G>A (TRPM3) NP_001353075.1:p.Val1002Met
NM_001366146.2:c.3004G>A (TRPM3) NP_001353075.1:p.Val1002Met
NM_001366147.1:c.3079G>A (TRPM3) NP_001353076.1:p.Val1027Met
NM_001366147.2:c.3079G>A (TRPM3) NP_001353076.1:p.Val1027Met
NM_001366148.1:c.3049G>A (TRPM3) NP_001353077.1:p.Val1017Met
NM_001366148.2:c.3049G>A (TRPM3) NP_001353077.1:p.Val1017Met
NM_001366149.1:c.2974G>A (TRPM3) NP_001353078.1:p.Val992Met
NM_001366149.2:c.2974G>A (TRPM3) NP_001353078.1:p.Val992Met
NM_001366150.1:c.2938G>A (TRPM3) NP_001353079.1:p.Val980Met
NM_001366150.2:c.2938G>A (TRPM3) NP_001353079.1:p.Val980Met
NM_001366151.1:c.2968G>A (TRPM3) NP_001353080.1:p.Val990Met
NM_001366151.2:c.2968G>A (TRPM3) NP_001353080.1:p.Val990Met
NM_001366152.1:c.3079G>A (TRPM3) NP_001353081.1:p.Val1027Met
NM_001366152.2:c.3079G>A (TRPM3) NP_001353081.1:p.Val1027Met
NM_001366154.1:c.2545G>A (TRPM3) NP_001353083.1:p.Val849Met
NM_001366154.2:c.2545G>A (TRPM3) NP_001353083.1:p.Val849Met
NM_020952.4:c.2509G>A (TRPM3) NP_066003.3:p.Val837Met
NM_020952.5:c.2509G>A (TRPM3) NP_066003.3:p.Val837Met
NM_020952.6:c.2509G>A (TRPM3) NP_066003.3:p.Val837Met
NM_024971.5:c.2545G>A (TRPM3) NP_079247.5:p.Val849Met
NM_024971.6:c.2545G>A (TRPM3) NP_079247.5:p.Val849Met
NM_024971.7:c.2545G>A (TRPM3) NP_079247.5:p.Val849Met
NM_206944.3:c.2479G>A (TRPM3) NP_996827.3:p.Val827Met
NM_206944.4:c.2479G>A (TRPM3) NP_996827.3:p.Val827Met
NM_206944.5:c.2479G>A (TRPM3) NP_996827.3:p.Val827Met
NM_206945.3:c.2515G>A (TRPM3) NP_996828.3:p.Val839Met
NM_206945.4:c.2515G>A (TRPM3) NP_996828.3:p.Val839Met
NM_206945.5:c.2515G>A (TRPM3) NP_996828.3:p.Val839Met
NM_206946.3:c.2584G>A (TRPM3) NP_996829.3:p.Val862Met
NM_206946.4:c.2584G>A (TRPM3) NP_996829.3:p.Val862Met
NM_206946.5:c.2584G>A (TRPM3) NP_996829.3:p.Val862Met
NM_206947.3:c.2554G>A (TRPM3) NP_996830.3:p.Val852Met
NM_206947.4:c.2554G>A (TRPM3) NP_996830.3:p.Val852Met
NM_206947.5:c.2554G>A (TRPM3) NP_996830.3:p.Val852Met
ENST00000357533.6:c.2980G>A (TRPM3) ENSP00000350140.2:p.Val994Met
ENST00000358082.7:c.2554G>A (TRPM3) ENSP00000350791.3:p.Val852Met
ENST00000360823.6:c.2554G>A (TRPM3) ENSP00000354066.2:p.Val852Met
ENST00000377105.5:c.2545G>A (TRPM3) ENSP00000366309.1:p.Val849Met
ENST00000377110.7:c.2968G>A (TRPM3) ENSP00000366314.2:p.Val990Met
ENST00000377110.9:c.2968G>A (TRPM3) ENSP00000366314.4:p.Val990Met
ENST00000377111.6:c.2968G>A (TRPM3) ENSP00000366315.2:p.Val990Met
ENST00000377111.8:c.2968G>A (TRPM3) ENSP00000366315.4:p.Val990Met
ENST00000396280.9:c.2515G>A (TRPM3) ENSP00000379576.5:p.Val839Met
ENST00000396285.5:c.2509G>A (TRPM3) ENSP00000379581.1:p.Val837Met
ENST00000396292.8:c.2584G>A (TRPM3) ENSP00000379587.4:p.Val862Met
ENST00000408909.6:c.2545G>A (TRPM3) ENSP00000386127.2:p.Val849Met
ENST00000677594.1:c.2545G>A (TRPM3) ENSP00000504011.1:p.Val849Met
ENST00000704565.1:c.2979G>A (TRPM3) ENSP00000515942.1:n.2979G>A
ENST00000704566.1:c.2632G>A (TRPM3) ENSP00000515943.1:p.Val878Met
ENST00000704567.1:c.2509G>A (TRPM3) ENSP00000515944.1:p.Val837Met
ENST00000704568.1:c.3091G>A (TRPM3) ENSP00000515945.1:p.Val1031Met
ENST00000704571.1:n.2920G>A (TRPM3)
ENST00000704573.1:c.2509G>A (TRPM3) ENSP00000515949.1:p.Val837Met
ENST00000704574.1:c.*1964G>A (TRPM3) ENSP00000515950.1:n.*1964G>A
ENST00000707140.1:c.2902G>A (TRPM3) ENSP00000516762.1:p.Val968Met
XM_011519035.1:c.3085G>A (TRPM3) XP_011517337.1:p.Val1029Met
XM_011519036.1:c.3079G>A (TRPM3) XP_011517338.1:p.Val1027Met
XM_011519037.1:c.3049G>A (TRPM3) XP_011517339.1:p.Val1017Met
XM_011519037.3:c.3049G>A (TRPM3) XP_011517339.1:p.Val1017Met
XM_011519038.1:c.3043G>A (TRPM3) XP_011517340.1:p.Val1015Met
XM_011519038.3:c.3043G>A (TRPM3) XP_011517340.1:p.Val1015Met
XM_011519039.1:c.3013G>A (TRPM3) XP_011517341.1:p.Val1005Met
XM_011519039.3:c.3013G>A (TRPM3) XP_011517341.1:p.Val1005Met
XM_011519040.1:c.3010G>A (TRPM3) XP_011517342.1:p.Val1004Met
XM_011519040.3:c.3010G>A (TRPM3) XP_011517342.1:p.Val1004Met
XM_011519041.1:c.3004G>A (TRPM3) XP_011517343.1:p.Val1002Met
XM_011519042.1:c.2980G>A (TRPM3) XP_011517344.1:p.Val994Met
XM_011519042.3:c.2980G>A (TRPM3) XP_011517344.1:p.Val994Met
XM_011519043.1:c.2974G>A (TRPM3) XP_011517345.1:p.Val992Met
XM_011519044.1:c.2974G>A (TRPM3) XP_011517346.1:p.Val992Met
XM_011519045.1:c.2944G>A (TRPM3) XP_011517347.1:p.Val982Met
XM_011519045.2:c.2944G>A (TRPM3) XP_011517347.1:p.Val982Met
XM_011519046.1:c.2938G>A (TRPM3) XP_011517348.1:p.Val980Met
XM_011519046.3:c.2938G>A (TRPM3) XP_011517348.1:p.Val980Met
XM_011519047.1:c.2968G>A (TRPM3) XP_011517349.1:p.Val990Met
XM_017015156.1:c.1717G>A (TRPM3) XP_016870645.1:p.Val573Met
XM_024447681.1:c.1687G>A (TRPM3) XP_024303449.1:p.Val563Met
XM_024447682.1:c.1681G>A (TRPM3) XP_024303450.1:p.Val561Met
XM_024447683.1:c.1651G>A (TRPM3) XP_024303451.1:p.Val551Met
XM_024447684.1:c.1717G>A (TRPM3) XP_024303452.1:p.Val573Met
XM_024447685.1:c.1687G>A (TRPM3) XP_024303453.1:p.Val563Met
XM_024447686.1:c.1681G>A (TRPM3) XP_024303454.1:p.Val561Met
XR_001746712.1:n.819-3544C>T (KLF9-DT)
XR_001746713.1:n.256-3544C>T (KLF9-DT)
XR_001746714.1:n.194-3544C>T (KLF9-DT)
XR_001746715.2:n.214-3544C>T (KLF9-DT)
XR_002956886.1:n.908-3544C>T (KLF9-DT)
XR_002956887.1:n.985-3544C>T (KLF9-DT)
XR_929914.1:n.389-3544C>T (KLF9-DT)