Canonical Allele Identifier: CA418530610

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226818A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761133A>C , CM000663.2:g.75761133A>C	GRCh38
NC_000001.10:g.76226818A>C , CM000663.1:g.76226818A>C	GRCh37
NC_000001.9:g.75999406A>C	NCBI36
NG_007045.2:g.41776A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.957A>C MANE Select	ENSP00000359878.5:p.Ile319=
ENST00000473018.3:n.3081A>C
ENST00000532207.6:n.1968A>C
ENST00000541113.6:c.861A>C	ENSP00000442324.2:p.Ile287=
ENST00000679509.1:n.1919A>C
ENST00000679530.1:c.*725A>C	ENSP00000506454.1:n.*725A>C
ENST00000679615.1:n.2972A>C
ENST00000679687.1:c.519A>C	ENSP00000506598.1:p.Ile173=
ENST00000679704.1:c.*723A>C	ENSP00000505117.1:n.*723A>C
ENST00000679709.1:c.*920A>C	ENSP00000506623.1:n.*920A>C
ENST00000679976.1:c.*541A>C	ENSP00000505565.1:n.*541A>C
ENST00000680166.1:n.4246A>C
ENST00000680315.1:n.840A>C
ENST00000680517.1:c.*345A>C	ENSP00000505803.1:n.*345A>C
ENST00000680582.1:n.1919A>C
ENST00000680613.1:c.*450A>C	ENSP00000506114.1:n.*450A>C
ENST00000680662.1:c.*871A>C	ENSP00000505080.1:n.*871A>C
ENST00000680691.1:c.*620A>C	ENSP00000506487.1:n.*620A>C
ENST00000680694.1:c.*545A>C	ENSP00000505658.1:n.*545A>C
ENST00000680743.1:c.*746A>C	ENSP00000505073.1:n.*746A>C
ENST00000680749.1:c.*242A>C	ENSP00000505122.1:n.*242A>C
ENST00000680798.1:c.*432A>C	ENSP00000505670.1:n.*432A>C
ENST00000680805.1:c.816A>C	ENSP00000505447.1:p.Ile272=
ENST00000680844.1:c.*741A>C	ENSP00000506541.1:n.*741A>C
ENST00000680948.1:c.*824A>C	ENSP00000505441.1:n.*824A>C
ENST00000680964.1:c.*50A>C	ENSP00000505961.1:n.*50A>C
ENST00000681037.1:c.*2441A>C	ENSP00000506025.1:n.*2441A>C
ENST00000681063.1:c.*226A>C	ENSP00000506616.1:n.*226A>C
ENST00000681209.1:c.*612A>C	ENSP00000505877.1:n.*612A>C
ENST00000681278.1:n.1659A>C
ENST00000681289.1:n.4952A>C
ENST00000681361.1:c.*624A>C	ENSP00000506679.1:n.*624A>C
ENST00000681430.1:c.*50A>C	ENSP00000506301.1:n.*50A>C
ENST00000681446.1:c.*661A>C	ENSP00000506244.1:n.*661A>C
ENST00000681450.1:c.*628A>C	ENSP00000505660.1:n.*628A>C
ENST00000681548.1:c.*543A>C	ENSP00000505275.1:n.*543A>C
ENST00000681616.1:c.*616A>C	ENSP00000505111.1:n.*616A>C
ENST00000681621.1:c.*541A>C	ENSP00000505770.1:n.*541A>C
ENST00000681680.1:n.3052A>C
ENST00000681720.1:c.*412A>C	ENSP00000505438.1:n.*412A>C
ENST00000681730.1:n.1179A>C
ENST00000681790.1:c.699A>C	ENSP00000505130.1:p.Ile233=
ENST00000681837.1:n.1573A>C
ENST00000681913.1:n.3203A>C
ENST00000681916.1:c.*725A>C	ENSP00000506477.1:n.*725A>C
ENST00000681930.1:n.3081A>C
ENST00000370834.9:c.1056A>C	ENSP00000359871.5:p.Ile352=
ENST00000370841.8:c.957A>C	ENSP00000359878.4:p.Ile319=
ENST00000420607.6:c.969A>C	ENSP00000409612.2:p.Ile323=
ENST00000481374.1:n.230A>C
ENST00000525808.5:c.*543A>C	ENSP00000434823.1:n.*543A>C
ENST00000526129.5:c.*741A>C	ENSP00000434092.1:n.*741A>C
ENST00000526196.5:c.*725A>C	ENSP00000431953.1:n.*725A>C
ENST00000528016.1:c.160-8044A>C	ENSP00000434284.1:n.160-8044A>C
ENST00000529059.5:n.866A>C
ENST00000532207.5:n.687A>C
ENST00000534334.5:c.*698A>C	ENSP00000435584.1:n.*698A>C
ENST00000541113.5:c.849A>C	ENSP00000442324.1:p.Ile283=
NM_000016.5:c.957A>C	NP_000007.1:p.Ile319=
NM_001127328.2:c.969A>C	NP_001120800.1:p.Ile323=
NM_001286042.1:c.849A>C	NP_001272971.1:p.Ile283=
NM_001286043.1:c.1056A>C	NP_001272972.1:p.Ile352=
NM_001286044.1:c.390A>C	NP_001272973.1:p.Ile130=
NM_000016.6:c.957A>C MANE Select	NP_000007.1:p.Ile319=
NM_001127328.3:c.969A>C	NP_001120800.1:p.Ile323=
NM_001286042.2:c.849A>C	NP_001272971.1:p.Ile283=
NM_001286043.2:c.1056A>C	NP_001272972.1:p.Ile352=
NM_001286044.2:c.390A>C	NP_001272973.1:p.Ile130=