Canonical Allele Identifier: CA340815444
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 1478499
ClinVar RCV Id: RCV001974213
dbSNP Id: rs1199770829
gnomAD v2: 1-76205785-A-G
gnomAD v4: 1-75740100-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740100A>G , CM000663.2:g.75740100A>G GRCh38
NC_000001.10:g.76205785A>G , CM000663.1:g.76205785A>G GRCh37
NC_000001.9:g.75978373A>G NCBI36
NG_007045.2:g.20743A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.589A>G MANE Select ENSP00000359878.5:p.Lys197Glu
ENST00000473018.3:n.2713A>G
ENST00000541113.6:c.589A>G ENSP00000442324.2:p.Lys197Glu
ENST00000679509.1:n.1551A>G
ENST00000679530.1:c.*357A>G ENSP00000506454.1:n.*357A>G
ENST00000679615.1:n.2713A>G
ENST00000679687.1:c.151A>G ENSP00000506598.1:p.Lys51Glu
ENST00000679704.1:c.*355A>G ENSP00000505117.1:n.*355A>G
ENST00000679709.1:c.*552A>G ENSP00000506623.1:n.*552A>G
ENST00000679804.1:n.328A>G
ENST00000679976.1:c.*173A>G ENSP00000505565.1:n.*173A>G
ENST00000680166.1:n.3878A>G
ENST00000680517.1:c.*86A>G ENSP00000505803.1:n.*86A>G
ENST00000680582.1:n.1551A>G
ENST00000680613.1:c.589A>G ENSP00000506114.1:p.Lys197Glu
ENST00000680662.1:c.*503A>G ENSP00000505080.1:n.*503A>G
ENST00000680691.1:c.*252A>G ENSP00000506487.1:n.*252A>G
ENST00000680694.1:c.*177A>G ENSP00000505658.1:n.*177A>G
ENST00000680743.1:c.*256A>G ENSP00000505073.1:n.*256A>G
ENST00000680749.1:c.589A>G ENSP00000505122.1:p.Lys197Glu
ENST00000680798.1:c.*173A>G ENSP00000505670.1:n.*173A>G
ENST00000680805.1:c.589A>G ENSP00000505447.1:p.Lys197Glu
ENST00000680844.1:c.*373A>G ENSP00000506541.1:n.*373A>G
ENST00000680948.1:c.*456A>G ENSP00000505441.1:n.*456A>G
ENST00000680964.1:c.589A>G ENSP00000505961.1:p.Lys197Glu
ENST00000681037.1:c.589A>G ENSP00000506025.1:p.Lys197Glu
ENST00000681063.1:c.589A>G ENSP00000506616.1:p.Lys197Glu
ENST00000681209.1:c.*353A>G ENSP00000505877.1:n.*353A>G
ENST00000681278.1:n.946A>G
ENST00000681289.1:n.946A>G
ENST00000681361.1:c.*256A>G ENSP00000506679.1:n.*256A>G
ENST00000681430.1:c.589A>G ENSP00000506301.1:p.Lys197Glu
ENST00000681446.1:c.*171A>G ENSP00000506244.1:n.*171A>G
ENST00000681450.1:c.*260A>G ENSP00000505660.1:n.*260A>G
ENST00000681548.1:c.*175A>G ENSP00000505275.1:n.*175A>G
ENST00000681616.1:c.*357A>G ENSP00000505111.1:n.*357A>G
ENST00000681621.1:c.*173A>G ENSP00000505770.1:n.*173A>G
ENST00000681680.1:n.2713A>G
ENST00000681720.1:c.*55-5706A>G ENSP00000505438.1:n.*55-5706A>G
ENST00000681730.1:n.811A>G
ENST00000681790.1:c.331A>G ENSP00000505130.1:p.Lys111Glu
ENST00000681837.1:n.1205A>G
ENST00000681913.1:n.2713A>G
ENST00000681916.1:c.*357A>G ENSP00000506477.1:n.*357A>G
ENST00000681930.1:n.2713A>G
ENST00000370834.9:c.688A>G ENSP00000359871.5:p.Lys230Glu
ENST00000370841.8:c.589A>G ENSP00000359878.4:p.Lys197Glu
ENST00000420607.6:c.601A>G ENSP00000409612.2:p.Lys201Glu
ENST00000525808.5:c.*175A>G ENSP00000434823.1:n.*175A>G
ENST00000526129.5:c.*373A>G ENSP00000434092.1:n.*373A>G
ENST00000526196.5:c.*357A>G ENSP00000431953.1:n.*357A>G
ENST00000526930.1:n.362A>G
ENST00000529059.5:n.498A>G
ENST00000530953.6:c.*86A>G ENSP00000431372.1:n.*86A>G
ENST00000532509.5:c.*353A>G ENSP00000432522.1:n.*353A>G
ENST00000534334.5:c.*173A>G ENSP00000435584.1:n.*173A>G
ENST00000541113.5:c.481A>G ENSP00000442324.1:p.Lys161Glu
NM_000016.5:c.589A>G NP_000007.1:p.Lys197Glu
NM_001127328.2:c.601A>G NP_001120800.1:p.Lys201Glu
NM_001286042.1:c.481A>G NP_001272971.1:p.Lys161Glu
NM_001286043.1:c.688A>G NP_001272972.1:p.Lys230Glu
NM_001286044.1:c.22A>G NP_001272973.1:p.Lys8Glu
NM_000016.6:c.589A>G MANE Select NP_000007.1:p.Lys197Glu
NM_001127328.3:c.601A>G NP_001120800.1:p.Lys201Glu
NM_001286042.2:c.481A>G NP_001272971.1:p.Lys161Glu
NM_001286043.2:c.688A>G NP_001272972.1:p.Lys230Glu
NM_001286044.2:c.22A>G NP_001272973.1:p.Lys8Glu