Canonical Allele Identifier: CA340816502
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 801499
ClinVar RCV Id: RCV000986335
dbSNP Id: rs1570891615

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749419G>T , CM000663.2:g.75749419G>T GRCh38
NC_000001.10:g.76215104G>T , CM000663.1:g.76215104G>T GRCh37
NC_000001.9:g.75987692G>T NCBI36
NG_007045.2:g.30062G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.709G>T MANE Select ENSP00000359878.5:p.Glu237Ter
ENST00000473018.3:n.2833G>T
ENST00000532207.6:n.1598G>T
ENST00000541113.6:c.709G>T ENSP00000442324.2:p.Glu237Ter
ENST00000679509.1:n.1671G>T
ENST00000679530.1:c.*477G>T ENSP00000506454.1:n.*477G>T
ENST00000679615.1:n.2724G>T
ENST00000679687.1:c.271G>T ENSP00000506598.1:p.Glu91Ter
ENST00000679704.1:c.*475G>T ENSP00000505117.1:n.*475G>T
ENST00000679709.1:c.*672G>T ENSP00000506623.1:n.*672G>T
ENST00000679976.1:c.*293G>T ENSP00000505565.1:n.*293G>T
ENST00000680166.1:n.3998G>T
ENST00000680517.1:c.*97G>T ENSP00000505803.1:n.*97G>T
ENST00000680582.1:n.1671G>T
ENST00000680613.1:c.*80G>T ENSP00000506114.1:n.*80G>T
ENST00000680662.1:c.*623G>T ENSP00000505080.1:n.*623G>T
ENST00000680691.1:c.*372G>T ENSP00000506487.1:n.*372G>T
ENST00000680694.1:c.*297G>T ENSP00000505658.1:n.*297G>T
ENST00000680743.1:c.*376G>T ENSP00000505073.1:n.*376G>T
ENST00000680749.1:c.600G>T ENSP00000505122.1:p.Trp200Cys
ENST00000680798.1:c.*184G>T ENSP00000505670.1:n.*184G>T
ENST00000680805.1:c.709-1032G>T ENSP00000505447.1:n.709-1032G>T
ENST00000680844.1:c.*493G>T ENSP00000506541.1:n.*493G>T
ENST00000680948.1:c.*576G>T ENSP00000505441.1:n.*576G>T
ENST00000680964.1:c.709G>T ENSP00000505961.1:p.Glu237Ter
ENST00000681037.1:c.*2193G>T ENSP00000506025.1:n.*2193G>T
ENST00000681063.1:c.600-1032G>T ENSP00000506616.1:n.600-1032G>T
ENST00000681209.1:c.*364G>T ENSP00000505877.1:n.*364G>T
ENST00000681278.1:n.1066G>T
ENST00000681289.1:n.4704G>T
ENST00000681361.1:c.*376G>T ENSP00000506679.1:n.*376G>T
ENST00000681430.1:c.709G>T ENSP00000506301.1:p.Glu237Ter
ENST00000681446.1:c.*291G>T ENSP00000506244.1:n.*291G>T
ENST00000681450.1:c.*380G>T ENSP00000505660.1:n.*380G>T
ENST00000681548.1:c.*295G>T ENSP00000505275.1:n.*295G>T
ENST00000681616.1:c.*368G>T ENSP00000505111.1:n.*368G>T
ENST00000681621.1:c.*293G>T ENSP00000505770.1:n.*293G>T
ENST00000681680.1:n.2804G>T
ENST00000681720.1:c.*164G>T ENSP00000505438.1:n.*164G>T
ENST00000681730.1:n.931G>T
ENST00000681790.1:c.451G>T ENSP00000505130.1:p.Glu151Ter
ENST00000681837.1:n.1325G>T
ENST00000681913.1:n.2833G>T
ENST00000681916.1:c.*477G>T ENSP00000506477.1:n.*477G>T
ENST00000681930.1:n.2833G>T
ENST00000370834.9:c.808G>T ENSP00000359871.5:p.Glu270Ter
ENST00000370841.8:c.709G>T ENSP00000359878.4:p.Glu237Ter
ENST00000420607.6:c.721G>T ENSP00000409612.2:p.Glu241Ter
ENST00000525808.5:c.*295G>T ENSP00000434823.1:n.*295G>T
ENST00000526129.5:c.*493G>T ENSP00000434092.1:n.*493G>T
ENST00000526196.5:c.*477G>T ENSP00000431953.1:n.*477G>T
ENST00000526930.1:n.482G>T
ENST00000529059.5:n.618G>T
ENST00000530953.6:c.*206G>T ENSP00000431372.1:n.*206G>T
ENST00000532207.5:n.439G>T
ENST00000532509.5:c.*473G>T ENSP00000432522.1:n.*473G>T
ENST00000534334.5:c.*293G>T ENSP00000435584.1:n.*293G>T
ENST00000541113.5:c.601G>T ENSP00000442324.1:p.Glu201Ter
NM_000016.5:c.709G>T NP_000007.1:p.Glu237Ter
NM_001127328.2:c.721G>T NP_001120800.1:p.Glu241Ter
NM_001286042.1:c.601G>T NP_001272971.1:p.Glu201Ter
NM_001286043.1:c.808G>T NP_001272972.1:p.Glu270Ter
NM_001286044.1:c.142G>T NP_001272973.1:p.Glu48Ter
NM_000016.6:c.709G>T MANE Select NP_000007.1:p.Glu237Ter
NM_001127328.3:c.721G>T NP_001120800.1:p.Glu241Ter
NM_001286042.2:c.601G>T NP_001272971.1:p.Glu201Ter
NM_001286043.2:c.808G>T NP_001272972.1:p.Glu270Ter
NM_001286044.2:c.142G>T NP_001272973.1:p.Glu48Ter