Canonical Allele Identifier: CA418544820
Gene: ACADM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.76215145T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749460T>C , CM000663.2:g.75749460T>C GRCh38
NC_000001.10:g.76215145T>C , CM000663.1:g.76215145T>C GRCh37
NC_000001.9:g.75987733T>C NCBI36
NG_007045.2:g.30103T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.750T>C MANE Select ENSP00000359878.5:p.Ile250=
ENST00000473018.3:n.2874T>C
ENST00000532207.6:n.1639T>C
ENST00000541113.6:c.750T>C ENSP00000442324.2:p.Ile250=
ENST00000679509.1:n.1712T>C
ENST00000679530.1:c.*518T>C ENSP00000506454.1:n.*518T>C
ENST00000679615.1:n.2765T>C
ENST00000679687.1:c.312T>C ENSP00000506598.1:p.Ile104=
ENST00000679704.1:c.*516T>C ENSP00000505117.1:n.*516T>C
ENST00000679709.1:c.*713T>C ENSP00000506623.1:n.*713T>C
ENST00000679976.1:c.*334T>C ENSP00000505565.1:n.*334T>C
ENST00000680166.1:n.4039T>C
ENST00000680517.1:c.*138T>C ENSP00000505803.1:n.*138T>C
ENST00000680582.1:n.1712T>C
ENST00000680613.1:c.*121T>C ENSP00000506114.1:n.*121T>C
ENST00000680662.1:c.*664T>C ENSP00000505080.1:n.*664T>C
ENST00000680691.1:c.*413T>C ENSP00000506487.1:n.*413T>C
ENST00000680694.1:c.*338T>C ENSP00000505658.1:n.*338T>C
ENST00000680743.1:c.*417T>C ENSP00000505073.1:n.*417T>C
ENST00000680749.1:c.*35T>C ENSP00000505122.1:n.*35T>C
ENST00000680798.1:c.*225T>C ENSP00000505670.1:n.*225T>C
ENST00000680805.1:c.709-991T>C ENSP00000505447.1:n.709-991T>C
ENST00000680844.1:c.*534T>C ENSP00000506541.1:n.*534T>C
ENST00000680948.1:c.*617T>C ENSP00000505441.1:n.*617T>C
ENST00000680964.1:c.750T>C ENSP00000505961.1:p.Ile250=
ENST00000681037.1:c.*2234T>C ENSP00000506025.1:n.*2234T>C
ENST00000681063.1:c.600-991T>C ENSP00000506616.1:n.600-991T>C
ENST00000681209.1:c.*405T>C ENSP00000505877.1:n.*405T>C
ENST00000681278.1:n.1107T>C
ENST00000681289.1:n.4745T>C
ENST00000681361.1:c.*417T>C ENSP00000506679.1:n.*417T>C
ENST00000681430.1:c.750T>C ENSP00000506301.1:p.Ile250=
ENST00000681446.1:c.*332T>C ENSP00000506244.1:n.*332T>C
ENST00000681450.1:c.*421T>C ENSP00000505660.1:n.*421T>C
ENST00000681548.1:c.*336T>C ENSP00000505275.1:n.*336T>C
ENST00000681616.1:c.*409T>C ENSP00000505111.1:n.*409T>C
ENST00000681621.1:c.*334T>C ENSP00000505770.1:n.*334T>C
ENST00000681680.1:n.2845T>C
ENST00000681720.1:c.*205T>C ENSP00000505438.1:n.*205T>C
ENST00000681730.1:n.972T>C
ENST00000681790.1:c.492T>C ENSP00000505130.1:p.Ile164=
ENST00000681837.1:n.1366T>C
ENST00000681913.1:n.2874T>C
ENST00000681916.1:c.*518T>C ENSP00000506477.1:n.*518T>C
ENST00000681930.1:n.2874T>C
ENST00000370834.9:c.849T>C ENSP00000359871.5:p.Ile283=
ENST00000370841.8:c.750T>C ENSP00000359878.4:p.Ile250=
ENST00000420607.6:c.762T>C ENSP00000409612.2:p.Ile254=
ENST00000525808.5:c.*336T>C ENSP00000434823.1:n.*336T>C
ENST00000526129.5:c.*534T>C ENSP00000434092.1:n.*534T>C
ENST00000526196.5:c.*518T>C ENSP00000431953.1:n.*518T>C
ENST00000526930.1:n.523T>C
ENST00000529059.5:n.659T>C
ENST00000530953.6:c.*247T>C ENSP00000431372.1:n.*247T>C
ENST00000532207.5:n.480T>C
ENST00000532509.5:c.*514T>C ENSP00000432522.1:n.*514T>C
ENST00000534334.5:c.*334T>C ENSP00000435584.1:n.*334T>C
ENST00000541113.5:c.642T>C ENSP00000442324.1:p.Ile214=
NM_000016.5:c.750T>C NP_000007.1:p.Ile250=
NM_001127328.2:c.762T>C NP_001120800.1:p.Ile254=
NM_001286042.1:c.642T>C NP_001272971.1:p.Ile214=
NM_001286043.1:c.849T>C NP_001272972.1:p.Ile283=
NM_001286044.1:c.183T>C NP_001272973.1:p.Ile61=
NM_000016.6:c.750T>C MANE Select NP_000007.1:p.Ile250=
NM_001127328.3:c.762T>C NP_001120800.1:p.Ile254=
NM_001286042.2:c.642T>C NP_001272971.1:p.Ile214=
NM_001286043.2:c.849T>C NP_001272972.1:p.Ile283=
NM_001286044.2:c.183T>C NP_001272973.1:p.Ile61=