Canonical Allele Identifier: CA1142317509
Community Standard Title: NM_000016.6(ACADM):c.683C= (p.Thr228=)
Gene: ACADM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75745889C= , CM000663.2:g.75745889C= GRCh38
NC_000001.10:g.76211574C= , CM000663.1:g.76211574C= GRCh37
NC_000001.9:g.75984162C= NCBI36
NG_007045.2:g.26532C=

Transcript Alleles

HGVS Amino-acid Change
NM_000016.6:c.683C= MANE Select NP_000007.1:p.Thr228=
ENST00000370841.9:c.683C= MANE Select ENSP00000359878.5:p.Thr228=
NM_000016.5:c.683C= NP_000007.1:p.Thr228=
NM_001127328.2:c.695C= NP_001120800.1:p.Thr232=
NM_001127328.3:c.695C= NP_001120800.1:p.Thr232=
NM_001286042.1:c.575C= NP_001272971.1:p.Thr192=
NM_001286042.2:c.575C= NP_001272971.1:p.Thr192=
NM_001286043.1:c.782C= NP_001272972.1:p.Thr261=
NM_001286043.2:c.782C= NP_001272972.1:p.Thr261=
NM_001286044.1:c.116C= NP_001272973.1:p.Thr39=
NM_001286044.2:c.116C= NP_001272973.1:p.Thr39=
ENST00000370834.9:c.782C= ENSP00000359871.5:p.Thr261=
ENST00000370841.8:c.683C= ENSP00000359878.4:p.Thr228=
ENST00000420607.6:c.695C= ENSP00000409612.2:p.Thr232=
ENST00000473018.3:n.2807C=
ENST00000525808.5:c.*269C= ENSP00000434823.1:n.*269C=
ENST00000526129.5:c.*467C= ENSP00000434092.1:n.*467C=
ENST00000526196.5:c.*451C= ENSP00000431953.1:n.*451C=
ENST00000526930.1:n.456C=
ENST00000529059.5:n.592C=
ENST00000530953.6:c.*180C= ENSP00000431372.1:n.*180C=
ENST00000532207.5:n.413C=
ENST00000532207.6:n.1572C=
ENST00000532509.5:c.*447C= ENSP00000432522.1:n.*447C=
ENST00000534334.5:c.*267C= ENSP00000435584.1:n.*267C=
ENST00000541113.5:c.575C= ENSP00000442324.1:p.Thr192=
ENST00000541113.6:c.683C= ENSP00000442324.2:p.Thr228=
ENST00000679509.1:n.1645C=
ENST00000679530.1:c.*451C= ENSP00000506454.1:n.*451C=
ENST00000679615.1:n.2724-3530C=
ENST00000679687.1:c.245C= ENSP00000506598.1:p.Thr82=
ENST00000679704.1:c.*449C= ENSP00000505117.1:n.*449C=
ENST00000679709.1:c.*646C= ENSP00000506623.1:n.*646C=
ENST00000679976.1:c.*267C= ENSP00000505565.1:n.*267C=
ENST00000680166.1:n.3972C=
ENST00000680517.1:c.*97-3530C= ENSP00000505803.1:n.*97-3530C=
ENST00000680582.1:n.1645C=
ENST00000680613.1:c.*54C= ENSP00000506114.1:n.*54C=
ENST00000680662.1:c.*597C= ENSP00000505080.1:n.*597C=
ENST00000680691.1:c.*346C= ENSP00000506487.1:n.*346C=
ENST00000680694.1:c.*271C= ENSP00000505658.1:n.*271C=
ENST00000680743.1:c.*350C= ENSP00000505073.1:n.*350C=
ENST00000680749.1:c.600-3530C= ENSP00000505122.1:n.600-3530C=
ENST00000680798.1:c.*184-3530C= ENSP00000505670.1:n.*184-3530C=
ENST00000680805.1:c.683C= ENSP00000505447.1:p.Thr228=
ENST00000680844.1:c.*467C= ENSP00000506541.1:n.*467C=
ENST00000680948.1:c.*550C= ENSP00000505441.1:n.*550C=
ENST00000680964.1:c.683C= ENSP00000505961.1:p.Thr228=
ENST00000681037.1:c.*2167C= ENSP00000506025.1:n.*2167C=
ENST00000681063.1:c.600-4562C= ENSP00000506616.1:n.600-4562C=
ENST00000681209.1:c.*364-3530C= ENSP00000505877.1:n.*364-3530C=
ENST00000681278.1:n.1040C=
ENST00000681289.1:n.4678C=
ENST00000681361.1:c.*350C= ENSP00000506679.1:n.*350C=
ENST00000681430.1:c.683C= ENSP00000506301.1:p.Thr228=
ENST00000681446.1:c.*265C= ENSP00000506244.1:n.*265C=
ENST00000681450.1:c.*354C= ENSP00000505660.1:n.*354C=
ENST00000681548.1:c.*269C= ENSP00000505275.1:n.*269C=
ENST00000681616.1:c.*368-3530C= ENSP00000505111.1:n.*368-3530C=
ENST00000681621.1:c.*267C= ENSP00000505770.1:n.*267C=
ENST00000681680.1:n.2778C=
ENST00000681720.1:c.*138C= ENSP00000505438.1:n.*138C=
ENST00000681730.1:n.905C=
ENST00000681790.1:c.425C= ENSP00000505130.1:p.Thr142=
ENST00000681837.1:n.1299C=
ENST00000681913.1:n.2807C=
ENST00000681916.1:c.*451C= ENSP00000506477.1:n.*451C=
ENST00000681930.1:n.2807C=