Canonical Allele Identifier: CA340815449
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740101A>C , CM000663.2:g.75740101A>C GRCh38
NC_000001.10:g.76205786A>C , CM000663.1:g.76205786A>C GRCh37
NC_000001.9:g.75978374A>C NCBI36
NG_007045.2:g.20744A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.590A>C MANE Select ENSP00000359878.5:p.Lys197Thr
ENST00000473018.3:n.2714A>C
ENST00000541113.6:c.590A>C ENSP00000442324.2:p.Lys197Thr
ENST00000679509.1:n.1552A>C
ENST00000679530.1:c.*358A>C ENSP00000506454.1:n.*358A>C
ENST00000679615.1:n.2714A>C
ENST00000679687.1:c.152A>C ENSP00000506598.1:p.Lys51Thr
ENST00000679704.1:c.*356A>C ENSP00000505117.1:n.*356A>C
ENST00000679709.1:c.*553A>C ENSP00000506623.1:n.*553A>C
ENST00000679804.1:n.329A>C
ENST00000679976.1:c.*174A>C ENSP00000505565.1:n.*174A>C
ENST00000680166.1:n.3879A>C
ENST00000680517.1:c.*87A>C ENSP00000505803.1:n.*87A>C
ENST00000680582.1:n.1552A>C
ENST00000680613.1:c.590A>C ENSP00000506114.1:p.Lys197Thr
ENST00000680662.1:c.*504A>C ENSP00000505080.1:n.*504A>C
ENST00000680691.1:c.*253A>C ENSP00000506487.1:n.*253A>C
ENST00000680694.1:c.*178A>C ENSP00000505658.1:n.*178A>C
ENST00000680743.1:c.*257A>C ENSP00000505073.1:n.*257A>C
ENST00000680749.1:c.590A>C ENSP00000505122.1:p.Lys197Thr
ENST00000680798.1:c.*174A>C ENSP00000505670.1:n.*174A>C
ENST00000680805.1:c.590A>C ENSP00000505447.1:p.Lys197Thr
ENST00000680844.1:c.*374A>C ENSP00000506541.1:n.*374A>C
ENST00000680948.1:c.*457A>C ENSP00000505441.1:n.*457A>C
ENST00000680964.1:c.590A>C ENSP00000505961.1:p.Lys197Thr
ENST00000681037.1:c.590A>C ENSP00000506025.1:p.Lys197Thr
ENST00000681063.1:c.590A>C ENSP00000506616.1:p.Lys197Thr
ENST00000681209.1:c.*354A>C ENSP00000505877.1:n.*354A>C
ENST00000681278.1:n.947A>C
ENST00000681289.1:n.947A>C
ENST00000681361.1:c.*257A>C ENSP00000506679.1:n.*257A>C
ENST00000681430.1:c.590A>C ENSP00000506301.1:p.Lys197Thr
ENST00000681446.1:c.*172A>C ENSP00000506244.1:n.*172A>C
ENST00000681450.1:c.*261A>C ENSP00000505660.1:n.*261A>C
ENST00000681548.1:c.*176A>C ENSP00000505275.1:n.*176A>C
ENST00000681616.1:c.*358A>C ENSP00000505111.1:n.*358A>C
ENST00000681621.1:c.*174A>C ENSP00000505770.1:n.*174A>C
ENST00000681680.1:n.2714A>C
ENST00000681720.1:c.*55-5705A>C ENSP00000505438.1:n.*55-5705A>C
ENST00000681730.1:n.812A>C
ENST00000681790.1:c.332A>C ENSP00000505130.1:p.Lys111Thr
ENST00000681837.1:n.1206A>C
ENST00000681913.1:n.2714A>C
ENST00000681916.1:c.*358A>C ENSP00000506477.1:n.*358A>C
ENST00000681930.1:n.2714A>C
ENST00000370834.9:c.689A>C ENSP00000359871.5:p.Lys230Thr
ENST00000370841.8:c.590A>C ENSP00000359878.4:p.Lys197Thr
ENST00000420607.6:c.602A>C ENSP00000409612.2:p.Lys201Thr
ENST00000525808.5:c.*176A>C ENSP00000434823.1:n.*176A>C
ENST00000526129.5:c.*374A>C ENSP00000434092.1:n.*374A>C
ENST00000526196.5:c.*358A>C ENSP00000431953.1:n.*358A>C
ENST00000526930.1:n.363A>C
ENST00000529059.5:n.499A>C
ENST00000530953.6:c.*87A>C ENSP00000431372.1:n.*87A>C
ENST00000532509.5:c.*354A>C ENSP00000432522.1:n.*354A>C
ENST00000534334.5:c.*174A>C ENSP00000435584.1:n.*174A>C
ENST00000541113.5:c.482A>C ENSP00000442324.1:p.Lys161Thr
NM_000016.5:c.590A>C NP_000007.1:p.Lys197Thr
NM_001127328.2:c.602A>C NP_001120800.1:p.Lys201Thr
NM_001286042.1:c.482A>C NP_001272971.1:p.Lys161Thr
NM_001286043.1:c.689A>C NP_001272972.1:p.Lys230Thr
NM_001286044.1:c.23A>C NP_001272973.1:p.Lys8Thr
NM_000016.6:c.590A>C MANE Select NP_000007.1:p.Lys197Thr
NM_001127328.3:c.602A>C NP_001120800.1:p.Lys201Thr
NM_001286042.2:c.482A>C NP_001272971.1:p.Lys161Thr
NM_001286043.2:c.689A>C NP_001272972.1:p.Lys230Thr
NM_001286044.2:c.23A>C NP_001272973.1:p.Lys8Thr