Canonical Allele Identifier: CA340816573
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749450C>T , CM000663.2:g.75749450C>T GRCh38
NC_000001.10:g.76215135C>T , CM000663.1:g.76215135C>T GRCh37
NC_000001.9:g.75987723C>T NCBI36
NG_007045.2:g.30093C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.740C>T MANE Select ENSP00000359878.5:p.Thr247Ile
ENST00000473018.3:n.2864C>T
ENST00000532207.6:n.1629C>T
ENST00000541113.6:c.740C>T ENSP00000442324.2:p.Thr247Ile
ENST00000679509.1:n.1702C>T
ENST00000679530.1:c.*508C>T ENSP00000506454.1:n.*508C>T
ENST00000679615.1:n.2755C>T
ENST00000679687.1:c.302C>T ENSP00000506598.1:p.Thr101Ile
ENST00000679704.1:c.*506C>T ENSP00000505117.1:n.*506C>T
ENST00000679709.1:c.*703C>T ENSP00000506623.1:n.*703C>T
ENST00000679976.1:c.*324C>T ENSP00000505565.1:n.*324C>T
ENST00000680166.1:n.4029C>T
ENST00000680517.1:c.*128C>T ENSP00000505803.1:n.*128C>T
ENST00000680582.1:n.1702C>T
ENST00000680613.1:c.*111C>T ENSP00000506114.1:n.*111C>T
ENST00000680662.1:c.*654C>T ENSP00000505080.1:n.*654C>T
ENST00000680691.1:c.*403C>T ENSP00000506487.1:n.*403C>T
ENST00000680694.1:c.*328C>T ENSP00000505658.1:n.*328C>T
ENST00000680743.1:c.*407C>T ENSP00000505073.1:n.*407C>T
ENST00000680749.1:c.*25C>T ENSP00000505122.1:n.*25C>T
ENST00000680798.1:c.*215C>T ENSP00000505670.1:n.*215C>T
ENST00000680805.1:c.709-1001C>T ENSP00000505447.1:n.709-1001C>T
ENST00000680844.1:c.*524C>T ENSP00000506541.1:n.*524C>T
ENST00000680948.1:c.*607C>T ENSP00000505441.1:n.*607C>T
ENST00000680964.1:c.740C>T ENSP00000505961.1:p.Thr247Ile
ENST00000681037.1:c.*2224C>T ENSP00000506025.1:n.*2224C>T
ENST00000681063.1:c.600-1001C>T ENSP00000506616.1:n.600-1001C>T
ENST00000681209.1:c.*395C>T ENSP00000505877.1:n.*395C>T
ENST00000681278.1:n.1097C>T
ENST00000681289.1:n.4735C>T
ENST00000681361.1:c.*407C>T ENSP00000506679.1:n.*407C>T
ENST00000681430.1:c.740C>T ENSP00000506301.1:p.Thr247Ile
ENST00000681446.1:c.*322C>T ENSP00000506244.1:n.*322C>T
ENST00000681450.1:c.*411C>T ENSP00000505660.1:n.*411C>T
ENST00000681548.1:c.*326C>T ENSP00000505275.1:n.*326C>T
ENST00000681616.1:c.*399C>T ENSP00000505111.1:n.*399C>T
ENST00000681621.1:c.*324C>T ENSP00000505770.1:n.*324C>T
ENST00000681680.1:n.2835C>T
ENST00000681720.1:c.*195C>T ENSP00000505438.1:n.*195C>T
ENST00000681730.1:n.962C>T
ENST00000681790.1:c.482C>T ENSP00000505130.1:p.Thr161Ile
ENST00000681837.1:n.1356C>T
ENST00000681913.1:n.2864C>T
ENST00000681916.1:c.*508C>T ENSP00000506477.1:n.*508C>T
ENST00000681930.1:n.2864C>T
ENST00000370834.9:c.839C>T ENSP00000359871.5:p.Thr280Ile
ENST00000370841.8:c.740C>T ENSP00000359878.4:p.Thr247Ile
ENST00000420607.6:c.752C>T ENSP00000409612.2:p.Thr251Ile
ENST00000525808.5:c.*326C>T ENSP00000434823.1:n.*326C>T
ENST00000526129.5:c.*524C>T ENSP00000434092.1:n.*524C>T
ENST00000526196.5:c.*508C>T ENSP00000431953.1:n.*508C>T
ENST00000526930.1:n.513C>T
ENST00000529059.5:n.649C>T
ENST00000530953.6:c.*237C>T ENSP00000431372.1:n.*237C>T
ENST00000532207.5:n.470C>T
ENST00000532509.5:c.*504C>T ENSP00000432522.1:n.*504C>T
ENST00000534334.5:c.*324C>T ENSP00000435584.1:n.*324C>T
ENST00000541113.5:c.632C>T ENSP00000442324.1:p.Thr211Ile
NM_000016.5:c.740C>T NP_000007.1:p.Thr247Ile
NM_001127328.2:c.752C>T NP_001120800.1:p.Thr251Ile
NM_001286042.1:c.632C>T NP_001272971.1:p.Thr211Ile
NM_001286043.1:c.839C>T NP_001272972.1:p.Thr280Ile
NM_001286044.1:c.173C>T NP_001272973.1:p.Thr58Ile
NM_000016.6:c.740C>T MANE Select NP_000007.1:p.Thr247Ile
NM_001127328.3:c.752C>T NP_001120800.1:p.Thr251Ile
NM_001286042.2:c.632C>T NP_001272971.1:p.Thr211Ile
NM_001286043.2:c.839C>T NP_001272972.1:p.Thr280Ile
NM_001286044.2:c.173C>T NP_001272973.1:p.Thr58Ile