Canonical Allele Identifier: CA418544764
Gene: ACADM HGNC NCBI

Linked Data

gnomAD v4: 1-75749421-A-G
MyVariant Identifiers: chr1:g.76215106A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749421A>G , CM000663.2:g.75749421A>G GRCh38
NC_000001.10:g.76215106A>G , CM000663.1:g.76215106A>G GRCh37
NC_000001.9:g.75987694A>G NCBI36
NG_007045.2:g.30064A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.711A>G MANE Select ENSP00000359878.5:p.Glu237=
ENST00000473018.3:n.2835A>G
ENST00000532207.6:n.1600A>G
ENST00000541113.6:c.711A>G ENSP00000442324.2:p.Glu237=
ENST00000679509.1:n.1673A>G
ENST00000679530.1:c.*479A>G ENSP00000506454.1:n.*479A>G
ENST00000679615.1:n.2726A>G
ENST00000679687.1:c.273A>G ENSP00000506598.1:p.Glu91=
ENST00000679704.1:c.*477A>G ENSP00000505117.1:n.*477A>G
ENST00000679709.1:c.*674A>G ENSP00000506623.1:n.*674A>G
ENST00000679976.1:c.*295A>G ENSP00000505565.1:n.*295A>G
ENST00000680166.1:n.4000A>G
ENST00000680517.1:c.*99A>G ENSP00000505803.1:n.*99A>G
ENST00000680582.1:n.1673A>G
ENST00000680613.1:c.*82A>G ENSP00000506114.1:n.*82A>G
ENST00000680662.1:c.*625A>G ENSP00000505080.1:n.*625A>G
ENST00000680691.1:c.*374A>G ENSP00000506487.1:n.*374A>G
ENST00000680694.1:c.*299A>G ENSP00000505658.1:n.*299A>G
ENST00000680743.1:c.*378A>G ENSP00000505073.1:n.*378A>G
ENST00000680749.1:c.602A>G ENSP00000505122.1:p.Asn201Ser
ENST00000680798.1:c.*186A>G ENSP00000505670.1:n.*186A>G
ENST00000680805.1:c.709-1030A>G ENSP00000505447.1:n.709-1030A>G
ENST00000680844.1:c.*495A>G ENSP00000506541.1:n.*495A>G
ENST00000680948.1:c.*578A>G ENSP00000505441.1:n.*578A>G
ENST00000680964.1:c.711A>G ENSP00000505961.1:p.Glu237=
ENST00000681037.1:c.*2195A>G ENSP00000506025.1:n.*2195A>G
ENST00000681063.1:c.600-1030A>G ENSP00000506616.1:n.600-1030A>G
ENST00000681209.1:c.*366A>G ENSP00000505877.1:n.*366A>G
ENST00000681278.1:n.1068A>G
ENST00000681289.1:n.4706A>G
ENST00000681361.1:c.*378A>G ENSP00000506679.1:n.*378A>G
ENST00000681430.1:c.711A>G ENSP00000506301.1:p.Glu237=
ENST00000681446.1:c.*293A>G ENSP00000506244.1:n.*293A>G
ENST00000681450.1:c.*382A>G ENSP00000505660.1:n.*382A>G
ENST00000681548.1:c.*297A>G ENSP00000505275.1:n.*297A>G
ENST00000681616.1:c.*370A>G ENSP00000505111.1:n.*370A>G
ENST00000681621.1:c.*295A>G ENSP00000505770.1:n.*295A>G
ENST00000681680.1:n.2806A>G
ENST00000681720.1:c.*166A>G ENSP00000505438.1:n.*166A>G
ENST00000681730.1:n.933A>G
ENST00000681790.1:c.453A>G ENSP00000505130.1:p.Glu151=
ENST00000681837.1:n.1327A>G
ENST00000681913.1:n.2835A>G
ENST00000681916.1:c.*479A>G ENSP00000506477.1:n.*479A>G
ENST00000681930.1:n.2835A>G
ENST00000370834.9:c.810A>G ENSP00000359871.5:p.Glu270=
ENST00000370841.8:c.711A>G ENSP00000359878.4:p.Glu237=
ENST00000420607.6:c.723A>G ENSP00000409612.2:p.Glu241=
ENST00000525808.5:c.*297A>G ENSP00000434823.1:n.*297A>G
ENST00000526129.5:c.*495A>G ENSP00000434092.1:n.*495A>G
ENST00000526196.5:c.*479A>G ENSP00000431953.1:n.*479A>G
ENST00000526930.1:n.484A>G
ENST00000529059.5:n.620A>G
ENST00000530953.6:c.*208A>G ENSP00000431372.1:n.*208A>G
ENST00000532207.5:n.441A>G
ENST00000532509.5:c.*475A>G ENSP00000432522.1:n.*475A>G
ENST00000534334.5:c.*295A>G ENSP00000435584.1:n.*295A>G
ENST00000541113.5:c.603A>G ENSP00000442324.1:p.Glu201=
NM_000016.5:c.711A>G NP_000007.1:p.Glu237=
NM_001127328.2:c.723A>G NP_001120800.1:p.Glu241=
NM_001286042.1:c.603A>G NP_001272971.1:p.Glu201=
NM_001286043.1:c.810A>G NP_001272972.1:p.Glu270=
NM_001286044.1:c.144A>G NP_001272973.1:p.Glu48=
NM_000016.6:c.711A>G MANE Select NP_000007.1:p.Glu237=
NM_001127328.3:c.723A>G NP_001120800.1:p.Glu241=
NM_001286042.2:c.603A>G NP_001272971.1:p.Glu201=
NM_001286043.2:c.810A>G NP_001272972.1:p.Glu270=
NM_001286044.2:c.144A>G NP_001272973.1:p.Glu48=