Canonical Allele Identifier: CA418545028
Gene: ACADM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.76216172T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750487T>C , CM000663.2:g.75750487T>C GRCh38
NC_000001.10:g.76216172T>C , CM000663.1:g.76216172T>C GRCh37
NC_000001.9:g.75988760T>C NCBI36
NG_007045.2:g.31130T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.886T>C MANE Select ENSP00000359878.5:p.Leu296=
ENST00000473018.3:n.3010T>C
ENST00000532207.6:n.1775T>C
ENST00000541113.6:c.849+928T>C ENSP00000442324.2:n.849+928T>C
ENST00000679509.1:n.1848T>C
ENST00000679530.1:c.*654T>C ENSP00000506454.1:n.*654T>C
ENST00000679615.1:n.2901T>C
ENST00000679687.1:c.448T>C ENSP00000506598.1:p.Leu150=
ENST00000679704.1:c.*652T>C ENSP00000505117.1:n.*652T>C
ENST00000679709.1:c.*849T>C ENSP00000506623.1:n.*849T>C
ENST00000679976.1:c.*470T>C ENSP00000505565.1:n.*470T>C
ENST00000680166.1:n.4175T>C
ENST00000680315.1:n.769T>C
ENST00000680517.1:c.*274T>C ENSP00000505803.1:n.*274T>C
ENST00000680582.1:n.1848T>C
ENST00000680613.1:c.*257T>C ENSP00000506114.1:n.*257T>C
ENST00000680662.1:c.*800T>C ENSP00000505080.1:n.*800T>C
ENST00000680691.1:c.*549T>C ENSP00000506487.1:n.*549T>C
ENST00000680694.1:c.*474T>C ENSP00000505658.1:n.*474T>C
ENST00000680743.1:c.*553T>C ENSP00000505073.1:n.*553T>C
ENST00000680749.1:c.*171T>C ENSP00000505122.1:n.*171T>C
ENST00000680798.1:c.*361T>C ENSP00000505670.1:n.*361T>C
ENST00000680805.1:c.745T>C ENSP00000505447.1:p.Leu249=
ENST00000680844.1:c.*670T>C ENSP00000506541.1:n.*670T>C
ENST00000680948.1:c.*753T>C ENSP00000505441.1:n.*753T>C
ENST00000680964.1:c.886T>C ENSP00000505961.1:p.Leu296=
ENST00000681037.1:c.*2370T>C ENSP00000506025.1:n.*2370T>C
ENST00000681063.1:c.*33T>C ENSP00000506616.1:n.*33T>C
ENST00000681209.1:c.*541T>C ENSP00000505877.1:n.*541T>C
ENST00000681278.1:n.1243T>C
ENST00000681289.1:n.4881T>C
ENST00000681361.1:c.*553T>C ENSP00000506679.1:n.*553T>C
ENST00000681430.1:c.886T>C ENSP00000506301.1:p.Leu296=
ENST00000681446.1:c.*468T>C ENSP00000506244.1:n.*468T>C
ENST00000681450.1:c.*557T>C ENSP00000505660.1:n.*557T>C
ENST00000681548.1:c.*472T>C ENSP00000505275.1:n.*472T>C
ENST00000681616.1:c.*545T>C ENSP00000505111.1:n.*545T>C
ENST00000681621.1:c.*470T>C ENSP00000505770.1:n.*470T>C
ENST00000681680.1:n.2981T>C
ENST00000681720.1:c.*341T>C ENSP00000505438.1:n.*341T>C
ENST00000681730.1:n.1108T>C
ENST00000681790.1:c.628T>C ENSP00000505130.1:p.Leu210=
ENST00000681837.1:n.1502T>C
ENST00000681913.1:n.3010T>C
ENST00000681916.1:c.*654T>C ENSP00000506477.1:n.*654T>C
ENST00000681930.1:n.3010T>C
ENST00000370834.9:c.985T>C ENSP00000359871.5:p.Leu329=
ENST00000370841.8:c.886T>C ENSP00000359878.4:p.Leu296=
ENST00000420607.6:c.898T>C ENSP00000409612.2:p.Leu300=
ENST00000481374.1:n.37T>C
ENST00000525808.5:c.*472T>C ENSP00000434823.1:n.*472T>C
ENST00000526129.5:c.*670T>C ENSP00000434092.1:n.*670T>C
ENST00000526196.5:c.*654T>C ENSP00000431953.1:n.*654T>C
ENST00000528016.1:c.100T>C ENSP00000434284.1:p.Leu34=
ENST00000529059.5:n.795T>C
ENST00000532207.5:n.616T>C
ENST00000534334.5:c.*470T>C ENSP00000435584.1:n.*470T>C
ENST00000541113.5:c.778T>C ENSP00000442324.1:p.Leu260=
NM_000016.5:c.886T>C NP_000007.1:p.Leu296=
NM_001127328.2:c.898T>C NP_001120800.1:p.Leu300=
NM_001286042.1:c.778T>C NP_001272971.1:p.Leu260=
NM_001286043.1:c.985T>C NP_001272972.1:p.Leu329=
NM_001286044.1:c.319T>C NP_001272973.1:p.Leu107=
NM_000016.6:c.886T>C MANE Select NP_000007.1:p.Leu296=
NM_001127328.3:c.898T>C NP_001120800.1:p.Leu300=
NM_001286042.2:c.778T>C NP_001272971.1:p.Leu260=
NM_001286043.2:c.985T>C NP_001272972.1:p.Leu329=
NM_001286044.2:c.319T>C NP_001272973.1:p.Leu107=