Canonical Allele Identifier: CA340818299

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227024A>C (hg19) ; chr1:g.75761339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761339A>C , CM000663.2:g.75761339A>C	GRCh38
NC_000001.10:g.76227024A>C , CM000663.1:g.76227024A>C	GRCh37
NC_000001.9:g.75999612A>C	NCBI36
NG_007045.2:g.41982A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1163A>C MANE Select	ENSP00000359878.5:p.Glu388Ala
ENST00000473018.3:n.3287A>C
ENST00000532207.6:n.2174A>C
ENST00000541113.6:c.1067A>C	ENSP00000442324.2:p.Glu356Ala
ENST00000679509.1:n.2125A>C
ENST00000679530.1:c.*931A>C	ENSP00000506454.1:n.*931A>C
ENST00000679615.1:n.3178A>C
ENST00000679687.1:c.725A>C	ENSP00000506598.1:p.Glu242Ala
ENST00000679704.1:c.*929A>C	ENSP00000505117.1:n.*929A>C
ENST00000679709.1:c.*1126A>C	ENSP00000506623.1:n.*1126A>C
ENST00000679976.1:c.*747A>C	ENSP00000505565.1:n.*747A>C
ENST00000680166.1:n.4452A>C
ENST00000680315.1:n.1046A>C
ENST00000680517.1:c.*551A>C	ENSP00000505803.1:n.*551A>C
ENST00000680582.1:n.2125A>C
ENST00000680613.1:c.*656A>C	ENSP00000506114.1:n.*656A>C
ENST00000680662.1:c.*1077A>C	ENSP00000505080.1:n.*1077A>C
ENST00000680691.1:c.*826A>C	ENSP00000506487.1:n.*826A>C
ENST00000680694.1:c.*751A>C	ENSP00000505658.1:n.*751A>C
ENST00000680743.1:c.*952A>C	ENSP00000505073.1:n.*952A>C
ENST00000680749.1:c.*448A>C	ENSP00000505122.1:n.*448A>C
ENST00000680798.1:c.*638A>C	ENSP00000505670.1:n.*638A>C
ENST00000680805.1:c.1022A>C	ENSP00000505447.1:p.Glu341Ala
ENST00000680844.1:c.*947A>C	ENSP00000506541.1:n.*947A>C
ENST00000680948.1:c.*1030A>C	ENSP00000505441.1:n.*1030A>C
ENST00000680964.1:c.*256A>C	ENSP00000505961.1:n.*256A>C
ENST00000681037.1:c.*2647A>C	ENSP00000506025.1:n.*2647A>C
ENST00000681063.1:c.*432A>C	ENSP00000506616.1:n.*432A>C
ENST00000681209.1:c.*818A>C	ENSP00000505877.1:n.*818A>C
ENST00000681278.1:n.1865A>C
ENST00000681289.1:n.5158A>C
ENST00000681361.1:c.*830A>C	ENSP00000506679.1:n.*830A>C
ENST00000681430.1:c.*256A>C	ENSP00000506301.1:n.*256A>C
ENST00000681446.1:c.*867A>C	ENSP00000506244.1:n.*867A>C
ENST00000681450.1:c.*834A>C	ENSP00000505660.1:n.*834A>C
ENST00000681548.1:c.*749A>C	ENSP00000505275.1:n.*749A>C
ENST00000681616.1:c.*822A>C	ENSP00000505111.1:n.*822A>C
ENST00000681621.1:c.*747A>C	ENSP00000505770.1:n.*747A>C
ENST00000681680.1:n.3258A>C
ENST00000681720.1:c.*618A>C	ENSP00000505438.1:n.*618A>C
ENST00000681730.1:n.1385A>C
ENST00000681790.1:c.905A>C	ENSP00000505130.1:p.Glu302Ala
ENST00000681837.1:n.1779A>C
ENST00000681913.1:n.3409A>C
ENST00000681916.1:c.*931A>C	ENSP00000506477.1:n.*931A>C
ENST00000681930.1:n.3287A>C
ENST00000370834.9:c.1262A>C	ENSP00000359871.5:p.Glu421Ala
ENST00000370841.8:c.1163A>C	ENSP00000359878.4:p.Glu388Ala
ENST00000420607.6:c.1175A>C	ENSP00000409612.2:p.Glu392Ala
ENST00000481374.1:n.436A>C
ENST00000525808.5:c.*749A>C	ENSP00000434823.1:n.*749A>C
ENST00000526129.5:c.*947A>C	ENSP00000434092.1:n.*947A>C
ENST00000526196.5:c.*931A>C	ENSP00000431953.1:n.*931A>C
ENST00000528016.1:c.160-7838A>C	ENSP00000434284.1:n.160-7838A>C
ENST00000529059.5:n.1072A>C
ENST00000541113.5:c.1055A>C	ENSP00000442324.1:p.Glu352Ala
NM_000016.5:c.1163A>C	NP_000007.1:p.Glu388Ala
NM_001127328.2:c.1175A>C	NP_001120800.1:p.Glu392Ala
NM_001286042.1:c.1055A>C	NP_001272971.1:p.Glu352Ala
NM_001286043.1:c.1262A>C	NP_001272972.1:p.Glu421Ala
NM_001286044.1:c.596A>C	NP_001272973.1:p.Glu199Ala
NM_000016.6:c.1163A>C MANE Select	NP_000007.1:p.Glu388Ala
NM_001127328.3:c.1175A>C	NP_001120800.1:p.Glu392Ala
NM_001286042.2:c.1055A>C	NP_001272971.1:p.Glu352Ala
NM_001286043.2:c.1262A>C	NP_001272972.1:p.Glu421Ala
NM_001286044.2:c.596A>C	NP_001272973.1:p.Glu199Ala