Canonical Allele Identifier: CA340817197
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750535C>G , CM000663.2:g.75750535C>G GRCh38
NC_000001.10:g.76216220C>G , CM000663.1:g.76216220C>G GRCh37
NC_000001.9:g.75988808C>G NCBI36
NG_007045.2:g.31178C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.934C>G MANE Select ENSP00000359878.5:p.Leu312Val
ENST00000473018.3:n.3058C>G
ENST00000532207.6:n.1823C>G
ENST00000541113.6:c.849+976C>G ENSP00000442324.2:n.849+976C>G
ENST00000679509.1:n.1896C>G
ENST00000679530.1:c.*702C>G ENSP00000506454.1:n.*702C>G
ENST00000679615.1:n.2949C>G
ENST00000679687.1:c.496C>G ENSP00000506598.1:p.Leu166Val
ENST00000679704.1:c.*700C>G ENSP00000505117.1:n.*700C>G
ENST00000679709.1:c.*897C>G ENSP00000506623.1:n.*897C>G
ENST00000679976.1:c.*518C>G ENSP00000505565.1:n.*518C>G
ENST00000680166.1:n.4223C>G
ENST00000680315.1:n.817C>G
ENST00000680517.1:c.*322C>G ENSP00000505803.1:n.*322C>G
ENST00000680582.1:n.1896C>G
ENST00000680613.1:c.*305C>G ENSP00000506114.1:n.*305C>G
ENST00000680662.1:c.*848C>G ENSP00000505080.1:n.*848C>G
ENST00000680691.1:c.*597C>G ENSP00000506487.1:n.*597C>G
ENST00000680694.1:c.*522C>G ENSP00000505658.1:n.*522C>G
ENST00000680743.1:c.*601C>G ENSP00000505073.1:n.*601C>G
ENST00000680749.1:c.*219C>G ENSP00000505122.1:n.*219C>G
ENST00000680798.1:c.*409C>G ENSP00000505670.1:n.*409C>G
ENST00000680805.1:c.793C>G ENSP00000505447.1:p.Leu265Val
ENST00000680844.1:c.*718C>G ENSP00000506541.1:n.*718C>G
ENST00000680948.1:c.*801C>G ENSP00000505441.1:n.*801C>G
ENST00000680964.1:c.934C>G ENSP00000505961.1:p.Leu312Val
ENST00000681037.1:c.*2418C>G ENSP00000506025.1:n.*2418C>G
ENST00000681063.1:c.*81C>G ENSP00000506616.1:n.*81C>G
ENST00000681209.1:c.*589C>G ENSP00000505877.1:n.*589C>G
ENST00000681278.1:n.1291C>G
ENST00000681289.1:n.4929C>G
ENST00000681361.1:c.*601C>G ENSP00000506679.1:n.*601C>G
ENST00000681430.1:c.934C>G ENSP00000506301.1:p.Leu312Val
ENST00000681446.1:c.*516C>G ENSP00000506244.1:n.*516C>G
ENST00000681450.1:c.*605C>G ENSP00000505660.1:n.*605C>G
ENST00000681548.1:c.*520C>G ENSP00000505275.1:n.*520C>G
ENST00000681616.1:c.*593C>G ENSP00000505111.1:n.*593C>G
ENST00000681621.1:c.*518C>G ENSP00000505770.1:n.*518C>G
ENST00000681680.1:n.3029C>G
ENST00000681720.1:c.*389C>G ENSP00000505438.1:n.*389C>G
ENST00000681730.1:n.1156C>G
ENST00000681790.1:c.676C>G ENSP00000505130.1:p.Leu226Val
ENST00000681837.1:n.1550C>G
ENST00000681913.1:n.3058C>G
ENST00000681916.1:c.*702C>G ENSP00000506477.1:n.*702C>G
ENST00000681930.1:n.3058C>G
ENST00000370834.9:c.1033C>G ENSP00000359871.5:p.Leu345Val
ENST00000370841.8:c.934C>G ENSP00000359878.4:p.Leu312Val
ENST00000420607.6:c.946C>G ENSP00000409612.2:p.Leu316Val
ENST00000481374.1:n.85C>G
ENST00000525808.5:c.*520C>G ENSP00000434823.1:n.*520C>G
ENST00000526129.5:c.*718C>G ENSP00000434092.1:n.*718C>G
ENST00000526196.5:c.*702C>G ENSP00000431953.1:n.*702C>G
ENST00000528016.1:c.148C>G ENSP00000434284.1:p.Leu50Val
ENST00000529059.5:n.843C>G
ENST00000532207.5:n.664C>G
ENST00000534334.5:c.*518C>G ENSP00000435584.1:n.*518C>G
ENST00000541113.5:c.826C>G ENSP00000442324.1:p.Leu276Val
NM_000016.5:c.934C>G NP_000007.1:p.Leu312Val
NM_001127328.2:c.946C>G NP_001120800.1:p.Leu316Val
NM_001286042.1:c.826C>G NP_001272971.1:p.Leu276Val
NM_001286043.1:c.1033C>G NP_001272972.1:p.Leu345Val
NM_001286044.1:c.367C>G NP_001272973.1:p.Leu123Val
NM_000016.6:c.934C>G MANE Select NP_000007.1:p.Leu312Val
NM_001127328.3:c.946C>G NP_001120800.1:p.Leu316Val
NM_001286042.2:c.826C>G NP_001272971.1:p.Leu276Val
NM_001286043.2:c.1033C>G NP_001272972.1:p.Leu345Val
NM_001286044.2:c.367C>G NP_001272973.1:p.Leu123Val