Canonical Allele Identifier: CA2742038349
Gene: ACADM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[75733592A>C;75733603C>T] , CM000663.2:g.[75733592A>C;75733603C>T] GRCh38
NC_000001.10:g.[76199277A>C;76199288C>T] , CM000663.1:g.[76199277A>C;76199288C>T] GRCh37
NC_000001.9:g.[75971865A>C;75971876C>T] NCBI36
NG_007045.2:g.[14235A>C;14246C>T]

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.[351A>C;362C>T] MANE Select ENSP00000359878.5:p.[Thr117=;Thr121Ile]
ENST00000473018.3:n.[1313A>C;1324C>T]
ENST00000525881.6:n.[1313A>C;1324C>T]
ENST00000541113.6:c.[351A>C;362C>T] ENSP00000442324.2:p.[Thr117=;Thr121Ile]
ENST00000679509.1:n.[1313A>C;1324C>T]
ENST00000679530.1:c.[*119A>C;*130C>T] ENSP00000506454.1:n.[*119A>C;*130C>T]
ENST00000679615.1:n.[1313A>C;1324C>T]
ENST00000679687.1:c.[31-6388A>C;31-6377C>T] ENSP00000506598.1:n.[31-6388A>C;31-6377C>T]
ENST00000679704.1:c.[*153+443A>C;*153+454C>T] ENSP00000505117.1:n.[*153+443A>C;*153+454C>T]
ENST00000679709.1:c.[*314A>C;*325C>T] ENSP00000506623.1:n.[*314A>C;*325C>T]
ENST00000679804.1:n.[207+670A>C;207+681C>T]
ENST00000679976.1:c.[286+670A>C;286+681C>T] ENSP00000505565.1:n.[286+670A>C;286+681C>T]
ENST00000680166.1:n.[2478A>C;2489C>T]
ENST00000680517.1:c.[286+670A>C;286+681C>T] ENSP00000505803.1:n.[286+670A>C;286+681C>T]
ENST00000680582.1:n.[1313A>C;1324C>T]
ENST00000680613.1:c.[351A>C;362C>T] ENSP00000506114.1:p.[Thr117=;Thr121Ile]
ENST00000680662.1:c.[*265A>C;*276C>T] ENSP00000505080.1:n.[*265A>C;*276C>T]
ENST00000680691.1:c.[*50+670A>C;*50+681C>T] ENSP00000506487.1:n.[*50+670A>C;*50+681C>T]
ENST00000680694.1:c.[286+670A>C;286+681C>T] ENSP00000505658.1:n.[286+670A>C;286+681C>T]
ENST00000680743.1:c.[*54+670A>C;*54+681C>T] ENSP00000505073.1:n.[*54+670A>C;*54+681C>T]
ENST00000680749.1:c.[351A>C;362C>T] ENSP00000505122.1:p.[Thr117=;Thr121Ile]
ENST00000680798.1:c.[286+670A>C;286+681C>T] ENSP00000505670.1:n.[286+670A>C;286+681C>T]
ENST00000680805.1:c.[351A>C;362C>T] ENSP00000505447.1:p.[Thr117=;Thr121Ile]
ENST00000680844.1:c.[*135A>C;*146C>T] ENSP00000506541.1:n.[*135A>C;*146C>T]
ENST00000680948.1:c.[*218A>C;*229C>T] ENSP00000505441.1:n.[*218A>C;*229C>T]
ENST00000680964.1:c.[351A>C;362C>T] ENSP00000505961.1:p.[Thr117=;Thr121Ile]
ENST00000681037.1:c.[351A>C;362C>T] ENSP00000506025.1:p.[Thr117=;Thr121Ile]
ENST00000681063.1:c.[351A>C;362C>T] ENSP00000506616.1:p.[Thr117=;Thr121Ile]
ENST00000681209.1:c.[*115A>C;*126C>T] ENSP00000505877.1:n.[*115A>C;*126C>T]
ENST00000681278.1:n.[708A>C;719C>T]
ENST00000681289.1:n.[708A>C;719C>T]
ENST00000681361.1:c.[*54+670A>C;*54+681C>T] ENSP00000506679.1:n.[*54+670A>C;*54+681C>T]
ENST00000681430.1:c.[351A>C;362C>T] ENSP00000506301.1:p.[Thr117=;Thr121Ile]
ENST00000681446.1:c.[286+670A>C;286+681C>T] ENSP00000506244.1:n.[286+670A>C;286+681C>T]
ENST00000681450.1:c.[*54+670A>C;*54+681C>T] ENSP00000505660.1:n.[*54+670A>C;*54+681C>T]
ENST00000681548.1:c.[*54+670A>C;*54+681C>T] ENSP00000505275.1:n.[*54+670A>C;*54+681C>T]
ENST00000681616.1:c.[*119A>C;*130C>T] ENSP00000505111.1:n.[*119A>C;*130C>T]
ENST00000681621.1:c.[286+670A>C;286+681C>T] ENSP00000505770.1:n.[286+670A>C;286+681C>T]
ENST00000681680.1:n.[1313A>C;1324C>T]
ENST00000681720.1:c.[*54+670A>C;*54+681C>T] ENSP00000505438.1:n.[*54+670A>C;*54+681C>T]
ENST00000681730.1:n.[573A>C;584C>T]
ENST00000681790.1:c.[93A>C;104C>T] ENSP00000505130.1:p.[Thr31=;Thr35Ile]
ENST00000681837.1:n.[967A>C;978C>T]
ENST00000681913.1:n.[1313A>C;1324C>T]
ENST00000681916.1:c.[*119A>C;*130C>T] ENSP00000506477.1:n.[*119A>C;*130C>T]
ENST00000681930.1:n.[1313A>C;1324C>T]
ENST00000370834.9:c.[450A>C;461C>T] ENSP00000359871.5:p.[Thr150=;Thr154Ile]
ENST00000370841.8:c.[351A>C;362C>T] ENSP00000359878.4:p.[Thr117=;Thr121Ile]
ENST00000420607.6:c.[363A>C;374C>T] ENSP00000409612.2:p.[Thr121=;Thr125Ile]
ENST00000525808.5:c.[*54+670A>C;*54+681C>T] ENSP00000434823.1:n.[*54+670A>C;*54+681C>T]
ENST00000526129.5:c.[*135A>C;*146C>T] ENSP00000434092.1:n.[*135A>C;*146C>T]
ENST00000526196.5:c.[*119A>C;*130C>T] ENSP00000431953.1:n.[*119A>C;*130C>T]
ENST00000529059.5:n.[296+670A>C;296+681C>T]
ENST00000530953.6:c.[118+5104A>C;118+5115C>T] ENSP00000431372.1:n.[118+5104A>C;118+5115C>T]
ENST00000532509.5:c.[*115A>C;*126C>T] ENSP00000432522.1:n.[*115A>C;*126C>T]
ENST00000534334.5:c.[286+670A>C;286+681C>T] ENSP00000435584.1:n.[286+670A>C;286+681C>T]
ENST00000541113.5:c.[243A>C;254C>T] ENSP00000442324.1:p.[Thr81=;Thr85Ile]
NM_000016.5:c.[351A>C;362C>T] NP_000007.1:p.[Thr117=;Thr121Ile]
NM_001127328.2:c.[363A>C;374C>T] NP_001120800.1:p.[Thr121=;Thr125Ile]
NM_001286042.1:c.[243A>C;254C>T] NP_001272971.1:p.[Thr81=;Thr85Ile]
NM_001286043.1:c.[450A>C;461C>T] NP_001272972.1:p.[Thr150=;Thr154Ile]
NM_001286044.1:c.[-100+670A>C;-100+681C>T] NP_001272973.1:n.[-100+670A>C;-100+681C>T]
NM_000016.6:c.[351A>C;362C>T] MANE Select NP_000007.1:p.[Thr117=;Thr121Ile]
NM_001127328.3:c.[363A>C;374C>T] NP_001120800.1:p.[Thr121=;Thr125Ile]
NM_001286042.2:c.[243A>C;254C>T] NP_001272971.1:p.[Thr81=;Thr85Ile]
NM_001286043.2:c.[450A>C;461C>T] NP_001272972.1:p.[Thr150=;Thr154Ile]
NM_001286044.2:c.[-100+670A>C;-100+681C>T] NP_001272973.1:n.[-100+670A>C;-100+681C>T]