Canonical Allele Identifier: CA373558256
Community Standard Title: NM_001366145.2(TRPM3):c.2234C>T (p.Ala745Val)
Gene: TRPM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.70618991G>A , CM000671.2:g.70618991G>A GRCh38
NC_000009.11:g.73233907G>A , CM000671.1:g.73233907G>A GRCh37
NC_000009.10:g.72423727G>A NCBI36
NG_047197.1:g.832934C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001366145.2:c.2234C>T MANE Select NP_001353074.1:p.Ala745Val
ENST00000677713.2:c.2234C>T MANE Select ENSP00000503830.2:p.Ala745Val
NM_001007471.2:c.2198C>T NP_001007472.2:p.Ala733Val
NM_001007471.3:c.2198C>T NP_001007472.2:p.Ala733Val
NM_001007471.4:c.2198C>T NP_001007472.2:p.Ala733Val
NM_001366141.1:c.2204C>T NP_001353070.1:p.Ala735Val
NM_001366141.2:c.2204C>T NP_001353070.1:p.Ala735Val
NM_001366142.1:c.2240C>T NP_001353071.1:p.Ala747Val
NM_001366142.2:c.2240C>T NP_001353071.1:p.Ala747Val
NM_001366143.1:c.2204C>T NP_001353072.1:p.Ala735Val
NM_001366143.2:c.2204C>T NP_001353072.1:p.Ala735Val
NM_001366145.1:c.2234C>T NP_001353074.1:p.Ala745Val
NM_001366146.1:c.2234C>T NP_001353075.1:p.Ala745Val
NM_001366146.2:c.2234C>T NP_001353075.1:p.Ala745Val
NM_001366147.1:c.2309C>T NP_001353076.1:p.Ala770Val
NM_001366147.2:c.2309C>T NP_001353076.1:p.Ala770Val
NM_001366148.1:c.2279C>T NP_001353077.1:p.Ala760Val
NM_001366148.2:c.2279C>T NP_001353077.1:p.Ala760Val
NM_001366149.1:c.2204C>T NP_001353078.1:p.Ala735Val
NM_001366149.2:c.2204C>T NP_001353078.1:p.Ala735Val
NM_001366150.1:c.2168C>T NP_001353079.1:p.Ala723Val
NM_001366150.2:c.2168C>T NP_001353079.1:p.Ala723Val
NM_001366151.1:c.2198C>T NP_001353080.1:p.Ala733Val
NM_001366151.2:c.2198C>T NP_001353080.1:p.Ala733Val
NM_001366152.1:c.2309C>T NP_001353081.1:p.Ala770Val
NM_001366152.2:c.2309C>T NP_001353081.1:p.Ala770Val
NM_001366154.1:c.1775C>T NP_001353083.1:p.Ala592Val
NM_001366154.2:c.1775C>T NP_001353083.1:p.Ala592Val
NM_020952.4:c.1739C>T NP_066003.3:p.Ala580Val
NM_020952.5:c.1739C>T NP_066003.3:p.Ala580Val
NM_020952.6:c.1739C>T NP_066003.3:p.Ala580Val
NM_024971.5:c.1775C>T NP_079247.5:p.Ala592Val
NM_024971.6:c.1775C>T NP_079247.5:p.Ala592Val
NM_024971.7:c.1775C>T NP_079247.5:p.Ala592Val
NM_206944.3:c.1709C>T NP_996827.3:p.Ala570Val
NM_206944.4:c.1709C>T NP_996827.3:p.Ala570Val
NM_206944.5:c.1709C>T NP_996827.3:p.Ala570Val
NM_206945.3:c.1745C>T NP_996828.3:p.Ala582Val
NM_206945.4:c.1745C>T NP_996828.3:p.Ala582Val
NM_206945.5:c.1745C>T NP_996828.3:p.Ala582Val
NM_206946.3:c.1814C>T NP_996829.3:p.Ala605Val
NM_206946.4:c.1814C>T NP_996829.3:p.Ala605Val
NM_206946.5:c.1814C>T NP_996829.3:p.Ala605Val
NM_206947.3:c.1784C>T NP_996830.3:p.Ala595Val
NM_206947.4:c.1784C>T NP_996830.3:p.Ala595Val
NM_206947.5:c.1784C>T NP_996830.3:p.Ala595Val
ENST00000357533.6:c.2210C>T ENSP00000350140.2:p.Ala737Val
ENST00000358082.7:c.1784C>T ENSP00000350791.3:p.Ala595Val
ENST00000360823.6:c.1784C>T ENSP00000354066.2:p.Ala595Val
ENST00000377105.5:c.1775C>T ENSP00000366309.1:p.Ala592Val
ENST00000377110.7:c.2198C>T ENSP00000366314.2:p.Ala733Val
ENST00000377110.9:c.2198C>T ENSP00000366314.4:p.Ala733Val
ENST00000377111.6:c.2198C>T ENSP00000366315.2:p.Ala733Val
ENST00000377111.8:c.2198C>T ENSP00000366315.4:p.Ala733Val
ENST00000396280.9:c.1745C>T ENSP00000379576.5:p.Ala582Val
ENST00000396285.5:c.1739C>T ENSP00000379581.1:p.Ala580Val
ENST00000396292.8:c.1814C>T ENSP00000379587.4:p.Ala605Val
ENST00000408909.6:c.1775C>T ENSP00000386127.2:p.Ala592Val
ENST00000677594.1:c.1775C>T ENSP00000504011.1:p.Ala592Val
ENST00000704565.1:c.2209C>T ENSP00000515942.1:n.2209C>T
ENST00000704566.1:c.1862C>T ENSP00000515943.1:p.Ala621Val
ENST00000704567.1:c.1739C>T ENSP00000515944.1:p.Ala580Val
ENST00000704568.1:c.2321C>T ENSP00000515945.1:p.Ala774Val
ENST00000704571.1:n.2150C>T
ENST00000704573.1:c.1739C>T ENSP00000515949.1:p.Ala580Val
ENST00000704574.1:c.*1194C>T ENSP00000515950.1:n.*1194C>T
ENST00000707140.1:c.2132C>T ENSP00000516762.1:p.Ala711Val
XM_011519035.1:c.2315C>T XP_011517337.1:p.Ala772Val
XM_011519036.1:c.2309C>T XP_011517338.1:p.Ala770Val
XM_011519037.1:c.2279C>T XP_011517339.1:p.Ala760Val
XM_011519037.3:c.2279C>T XP_011517339.1:p.Ala760Val
XM_011519038.1:c.2273C>T XP_011517340.1:p.Ala758Val
XM_011519038.3:c.2273C>T XP_011517340.1:p.Ala758Val
XM_011519039.1:c.2243C>T XP_011517341.1:p.Ala748Val
XM_011519039.3:c.2243C>T XP_011517341.1:p.Ala748Val
XM_011519040.1:c.2240C>T XP_011517342.1:p.Ala747Val
XM_011519040.3:c.2240C>T XP_011517342.1:p.Ala747Val
XM_011519041.1:c.2234C>T XP_011517343.1:p.Ala745Val
XM_011519042.1:c.2210C>T XP_011517344.1:p.Ala737Val
XM_011519042.3:c.2210C>T XP_011517344.1:p.Ala737Val
XM_011519043.1:c.2204C>T XP_011517345.1:p.Ala735Val
XM_011519044.1:c.2204C>T XP_011517346.1:p.Ala735Val
XM_011519045.1:c.2174C>T XP_011517347.1:p.Ala725Val
XM_011519045.2:c.2174C>T XP_011517347.1:p.Ala725Val
XM_011519046.1:c.2168C>T XP_011517348.1:p.Ala723Val
XM_011519046.3:c.2168C>T XP_011517348.1:p.Ala723Val
XM_011519047.1:c.2198C>T XP_011517349.1:p.Ala733Val
XM_017015156.1:c.947C>T XP_016870645.1:p.Ala316Val
XM_024447681.1:c.917C>T XP_024303449.1:p.Ala306Val
XM_024447682.1:c.911C>T XP_024303450.1:p.Ala304Val
XM_024447683.1:c.881C>T XP_024303451.1:p.Ala294Val
XM_024447684.1:c.947C>T XP_024303452.1:p.Ala316Val
XM_024447685.1:c.917C>T XP_024303453.1:p.Ala306Val
XM_024447686.1:c.911C>T XP_024303454.1:p.Ala304Val