Canonical Allele Identifier: CA340817039

Gene: ACADM

Linked Data

• dbSNP Id: rs1293309607
• gnomAD v2: 1-76216176-A-C
• gnomAD v4: 1-75750491-A-C
• MyVariant Identifiers: chr1:g.76216176A>C (hg19) ; chr1:g.75750491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750491A>C , CM000663.2:g.75750491A>C	GRCh38
NC_000001.10:g.76216176A>C , CM000663.1:g.76216176A>C	GRCh37
NC_000001.9:g.75988764A>C	NCBI36
NG_007045.2:g.31134A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.890A>C MANE Select	ENSP00000359878.5:p.Asp297Ala
ENST00000473018.3:n.3014A>C
ENST00000532207.6:n.1779A>C
ENST00000541113.6:c.849+932A>C	ENSP00000442324.2:n.849+932A>C
ENST00000679509.1:n.1852A>C
ENST00000679530.1:c.*658A>C	ENSP00000506454.1:n.*658A>C
ENST00000679615.1:n.2905A>C
ENST00000679687.1:c.452A>C	ENSP00000506598.1:p.Asp151Ala
ENST00000679704.1:c.*656A>C	ENSP00000505117.1:n.*656A>C
ENST00000679709.1:c.*853A>C	ENSP00000506623.1:n.*853A>C
ENST00000679976.1:c.*474A>C	ENSP00000505565.1:n.*474A>C
ENST00000680166.1:n.4179A>C
ENST00000680315.1:n.773A>C
ENST00000680517.1:c.*278A>C	ENSP00000505803.1:n.*278A>C
ENST00000680582.1:n.1852A>C
ENST00000680613.1:c.*261A>C	ENSP00000506114.1:n.*261A>C
ENST00000680662.1:c.*804A>C	ENSP00000505080.1:n.*804A>C
ENST00000680691.1:c.*553A>C	ENSP00000506487.1:n.*553A>C
ENST00000680694.1:c.*478A>C	ENSP00000505658.1:n.*478A>C
ENST00000680743.1:c.*557A>C	ENSP00000505073.1:n.*557A>C
ENST00000680749.1:c.*175A>C	ENSP00000505122.1:n.*175A>C
ENST00000680798.1:c.*365A>C	ENSP00000505670.1:n.*365A>C
ENST00000680805.1:c.749A>C	ENSP00000505447.1:p.Asp250Ala
ENST00000680844.1:c.*674A>C	ENSP00000506541.1:n.*674A>C
ENST00000680948.1:c.*757A>C	ENSP00000505441.1:n.*757A>C
ENST00000680964.1:c.890A>C	ENSP00000505961.1:p.Asp297Ala
ENST00000681037.1:c.*2374A>C	ENSP00000506025.1:n.*2374A>C
ENST00000681063.1:c.*37A>C	ENSP00000506616.1:n.*37A>C
ENST00000681209.1:c.*545A>C	ENSP00000505877.1:n.*545A>C
ENST00000681278.1:n.1247A>C
ENST00000681289.1:n.4885A>C
ENST00000681361.1:c.*557A>C	ENSP00000506679.1:n.*557A>C
ENST00000681430.1:c.890A>C	ENSP00000506301.1:p.Asp297Ala
ENST00000681446.1:c.*472A>C	ENSP00000506244.1:n.*472A>C
ENST00000681450.1:c.*561A>C	ENSP00000505660.1:n.*561A>C
ENST00000681548.1:c.*476A>C	ENSP00000505275.1:n.*476A>C
ENST00000681616.1:c.*549A>C	ENSP00000505111.1:n.*549A>C
ENST00000681621.1:c.*474A>C	ENSP00000505770.1:n.*474A>C
ENST00000681680.1:n.2985A>C
ENST00000681720.1:c.*345A>C	ENSP00000505438.1:n.*345A>C
ENST00000681730.1:n.1112A>C
ENST00000681790.1:c.632A>C	ENSP00000505130.1:p.Asp211Ala
ENST00000681837.1:n.1506A>C
ENST00000681913.1:n.3014A>C
ENST00000681916.1:c.*658A>C	ENSP00000506477.1:n.*658A>C
ENST00000681930.1:n.3014A>C
ENST00000370834.9:c.989A>C	ENSP00000359871.5:p.Asp330Ala
ENST00000370841.8:c.890A>C	ENSP00000359878.4:p.Asp297Ala
ENST00000420607.6:c.902A>C	ENSP00000409612.2:p.Asp301Ala
ENST00000481374.1:n.41A>C
ENST00000525808.5:c.*476A>C	ENSP00000434823.1:n.*476A>C
ENST00000526129.5:c.*674A>C	ENSP00000434092.1:n.*674A>C
ENST00000526196.5:c.*658A>C	ENSP00000431953.1:n.*658A>C
ENST00000528016.1:c.104A>C	ENSP00000434284.1:p.Asp35Ala
ENST00000529059.5:n.799A>C
ENST00000532207.5:n.620A>C
ENST00000534334.5:c.*474A>C	ENSP00000435584.1:n.*474A>C
ENST00000541113.5:c.782A>C	ENSP00000442324.1:p.Asp261Ala
NM_000016.5:c.890A>C	NP_000007.1:p.Asp297Ala
NM_001127328.2:c.902A>C	NP_001120800.1:p.Asp301Ala
NM_001286042.1:c.782A>C	NP_001272971.1:p.Asp261Ala
NM_001286043.1:c.989A>C	NP_001272972.1:p.Asp330Ala
NM_001286044.1:c.323A>C	NP_001272973.1:p.Asp108Ala
NM_000016.6:c.890A>C MANE Select	NP_000007.1:p.Asp297Ala
NM_001127328.3:c.902A>C	NP_001120800.1:p.Asp301Ala
NM_001286042.2:c.782A>C	NP_001272971.1:p.Asp261Ala
NM_001286043.2:c.989A>C	NP_001272972.1:p.Asp330Ala
NM_001286044.2:c.323A>C	NP_001272973.1:p.Asp108Ala