Canonical Allele Identifier: CA340816578
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 1515813
ClinVar RCV Id: RCV002023473
dbSNP Id: rs2100417476

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749454A>C , CM000663.2:g.75749454A>C GRCh38
NC_000001.10:g.76215139A>C , CM000663.1:g.76215139A>C GRCh37
NC_000001.9:g.75987727A>C NCBI36
NG_007045.2:g.30097A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.744A>C MANE Select ENSP00000359878.5:p.Arg248Ser
ENST00000473018.3:n.2868A>C
ENST00000532207.6:n.1633A>C
ENST00000541113.6:c.744A>C ENSP00000442324.2:p.Arg248Ser
ENST00000679509.1:n.1706A>C
ENST00000679530.1:c.*512A>C ENSP00000506454.1:n.*512A>C
ENST00000679615.1:n.2759A>C
ENST00000679687.1:c.306A>C ENSP00000506598.1:p.Arg102Ser
ENST00000679704.1:c.*510A>C ENSP00000505117.1:n.*510A>C
ENST00000679709.1:c.*707A>C ENSP00000506623.1:n.*707A>C
ENST00000679976.1:c.*328A>C ENSP00000505565.1:n.*328A>C
ENST00000680166.1:n.4033A>C
ENST00000680517.1:c.*132A>C ENSP00000505803.1:n.*132A>C
ENST00000680582.1:n.1706A>C
ENST00000680613.1:c.*115A>C ENSP00000506114.1:n.*115A>C
ENST00000680662.1:c.*658A>C ENSP00000505080.1:n.*658A>C
ENST00000680691.1:c.*407A>C ENSP00000506487.1:n.*407A>C
ENST00000680694.1:c.*332A>C ENSP00000505658.1:n.*332A>C
ENST00000680743.1:c.*411A>C ENSP00000505073.1:n.*411A>C
ENST00000680749.1:c.*29A>C ENSP00000505122.1:n.*29A>C
ENST00000680798.1:c.*219A>C ENSP00000505670.1:n.*219A>C
ENST00000680805.1:c.709-997A>C ENSP00000505447.1:n.709-997A>C
ENST00000680844.1:c.*528A>C ENSP00000506541.1:n.*528A>C
ENST00000680948.1:c.*611A>C ENSP00000505441.1:n.*611A>C
ENST00000680964.1:c.744A>C ENSP00000505961.1:p.Arg248Ser
ENST00000681037.1:c.*2228A>C ENSP00000506025.1:n.*2228A>C
ENST00000681063.1:c.600-997A>C ENSP00000506616.1:n.600-997A>C
ENST00000681209.1:c.*399A>C ENSP00000505877.1:n.*399A>C
ENST00000681278.1:n.1101A>C
ENST00000681289.1:n.4739A>C
ENST00000681361.1:c.*411A>C ENSP00000506679.1:n.*411A>C
ENST00000681430.1:c.744A>C ENSP00000506301.1:p.Arg248Ser
ENST00000681446.1:c.*326A>C ENSP00000506244.1:n.*326A>C
ENST00000681450.1:c.*415A>C ENSP00000505660.1:n.*415A>C
ENST00000681548.1:c.*330A>C ENSP00000505275.1:n.*330A>C
ENST00000681616.1:c.*403A>C ENSP00000505111.1:n.*403A>C
ENST00000681621.1:c.*328A>C ENSP00000505770.1:n.*328A>C
ENST00000681680.1:n.2839A>C
ENST00000681720.1:c.*199A>C ENSP00000505438.1:n.*199A>C
ENST00000681730.1:n.966A>C
ENST00000681790.1:c.486A>C ENSP00000505130.1:p.Arg162Ser
ENST00000681837.1:n.1360A>C
ENST00000681913.1:n.2868A>C
ENST00000681916.1:c.*512A>C ENSP00000506477.1:n.*512A>C
ENST00000681930.1:n.2868A>C
ENST00000370834.9:c.843A>C ENSP00000359871.5:p.Arg281Ser
ENST00000370841.8:c.744A>C ENSP00000359878.4:p.Arg248Ser
ENST00000420607.6:c.756A>C ENSP00000409612.2:p.Arg252Ser
ENST00000525808.5:c.*330A>C ENSP00000434823.1:n.*330A>C
ENST00000526129.5:c.*528A>C ENSP00000434092.1:n.*528A>C
ENST00000526196.5:c.*512A>C ENSP00000431953.1:n.*512A>C
ENST00000526930.1:n.517A>C
ENST00000529059.5:n.653A>C
ENST00000530953.6:c.*241A>C ENSP00000431372.1:n.*241A>C
ENST00000532207.5:n.474A>C
ENST00000532509.5:c.*508A>C ENSP00000432522.1:n.*508A>C
ENST00000534334.5:c.*328A>C ENSP00000435584.1:n.*328A>C
ENST00000541113.5:c.636A>C ENSP00000442324.1:p.Arg212Ser
NM_000016.5:c.744A>C NP_000007.1:p.Arg248Ser
NM_001127328.2:c.756A>C NP_001120800.1:p.Arg252Ser
NM_001286042.1:c.636A>C NP_001272971.1:p.Arg212Ser
NM_001286043.1:c.843A>C NP_001272972.1:p.Arg281Ser
NM_001286044.1:c.177A>C NP_001272973.1:p.Arg59Ser
NM_000016.6:c.744A>C MANE Select NP_000007.1:p.Arg248Ser
NM_001127328.3:c.756A>C NP_001120800.1:p.Arg252Ser
NM_001286042.2:c.636A>C NP_001272971.1:p.Arg212Ser
NM_001286043.2:c.843A>C NP_001272972.1:p.Arg281Ser
NM_001286044.2:c.177A>C NP_001272973.1:p.Arg59Ser