Canonical Allele Identifier: CA340817853

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1926644
• ClinVar RCV Id: RCV002605284
• dbSNP Id: rs1156515466
• gnomAD v2: 1-76226816-A-G
• gnomAD v4: 1-75761131-A-G
• MyVariant Identifiers: chr1:g.76226816A>G (hg19) ; chr1:g.75761131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761131A>G , CM000663.2:g.75761131A>G	GRCh38
NC_000001.10:g.76226816A>G , CM000663.1:g.76226816A>G	GRCh37
NC_000001.9:g.75999404A>G	NCBI36
NG_007045.2:g.41774A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.955A>G MANE Select	ENSP00000359878.5:p.Ile319Val
ENST00000473018.3:n.3079A>G
ENST00000532207.6:n.1966A>G
ENST00000541113.6:c.859A>G	ENSP00000442324.2:p.Ile287Val
ENST00000679509.1:n.1917A>G
ENST00000679530.1:c.*723A>G	ENSP00000506454.1:n.*723A>G
ENST00000679615.1:n.2970A>G
ENST00000679687.1:c.517A>G	ENSP00000506598.1:p.Ile173Val
ENST00000679704.1:c.*721A>G	ENSP00000505117.1:n.*721A>G
ENST00000679709.1:c.*918A>G	ENSP00000506623.1:n.*918A>G
ENST00000679976.1:c.*539A>G	ENSP00000505565.1:n.*539A>G
ENST00000680166.1:n.4244A>G
ENST00000680315.1:n.838A>G
ENST00000680517.1:c.*343A>G	ENSP00000505803.1:n.*343A>G
ENST00000680582.1:n.1917A>G
ENST00000680613.1:c.*448A>G	ENSP00000506114.1:n.*448A>G
ENST00000680662.1:c.*869A>G	ENSP00000505080.1:n.*869A>G
ENST00000680691.1:c.*618A>G	ENSP00000506487.1:n.*618A>G
ENST00000680694.1:c.*543A>G	ENSP00000505658.1:n.*543A>G
ENST00000680743.1:c.*744A>G	ENSP00000505073.1:n.*744A>G
ENST00000680749.1:c.*240A>G	ENSP00000505122.1:n.*240A>G
ENST00000680798.1:c.*430A>G	ENSP00000505670.1:n.*430A>G
ENST00000680805.1:c.814A>G	ENSP00000505447.1:p.Ile272Val
ENST00000680844.1:c.*739A>G	ENSP00000506541.1:n.*739A>G
ENST00000680948.1:c.*822A>G	ENSP00000505441.1:n.*822A>G
ENST00000680964.1:c.*48A>G	ENSP00000505961.1:n.*48A>G
ENST00000681037.1:c.*2439A>G	ENSP00000506025.1:n.*2439A>G
ENST00000681063.1:c.*224A>G	ENSP00000506616.1:n.*224A>G
ENST00000681209.1:c.*610A>G	ENSP00000505877.1:n.*610A>G
ENST00000681278.1:n.1657A>G
ENST00000681289.1:n.4950A>G
ENST00000681361.1:c.*622A>G	ENSP00000506679.1:n.*622A>G
ENST00000681430.1:c.*48A>G	ENSP00000506301.1:n.*48A>G
ENST00000681446.1:c.*659A>G	ENSP00000506244.1:n.*659A>G
ENST00000681450.1:c.*626A>G	ENSP00000505660.1:n.*626A>G
ENST00000681548.1:c.*541A>G	ENSP00000505275.1:n.*541A>G
ENST00000681616.1:c.*614A>G	ENSP00000505111.1:n.*614A>G
ENST00000681621.1:c.*539A>G	ENSP00000505770.1:n.*539A>G
ENST00000681680.1:n.3050A>G
ENST00000681720.1:c.*410A>G	ENSP00000505438.1:n.*410A>G
ENST00000681730.1:n.1177A>G
ENST00000681790.1:c.697A>G	ENSP00000505130.1:p.Ile233Val
ENST00000681837.1:n.1571A>G
ENST00000681913.1:n.3201A>G
ENST00000681916.1:c.*723A>G	ENSP00000506477.1:n.*723A>G
ENST00000681930.1:n.3079A>G
ENST00000370834.9:c.1054A>G	ENSP00000359871.5:p.Ile352Val
ENST00000370841.8:c.955A>G	ENSP00000359878.4:p.Ile319Val
ENST00000420607.6:c.967A>G	ENSP00000409612.2:p.Ile323Val
ENST00000481374.1:n.228A>G
ENST00000525808.5:c.*541A>G	ENSP00000434823.1:n.*541A>G
ENST00000526129.5:c.*739A>G	ENSP00000434092.1:n.*739A>G
ENST00000526196.5:c.*723A>G	ENSP00000431953.1:n.*723A>G
ENST00000528016.1:c.160-8046A>G	ENSP00000434284.1:n.160-8046A>G
ENST00000529059.5:n.864A>G
ENST00000532207.5:n.685A>G
ENST00000534334.5:c.*696A>G	ENSP00000435584.1:n.*696A>G
ENST00000541113.5:c.847A>G	ENSP00000442324.1:p.Ile283Val
NM_000016.5:c.955A>G	NP_000007.1:p.Ile319Val
NM_001127328.2:c.967A>G	NP_001120800.1:p.Ile323Val
NM_001286042.1:c.847A>G	NP_001272971.1:p.Ile283Val
NM_001286043.1:c.1054A>G	NP_001272972.1:p.Ile352Val
NM_001286044.1:c.388A>G	NP_001272973.1:p.Ile130Val
NM_000016.6:c.955A>G MANE Select	NP_000007.1:p.Ile319Val
NM_001127328.3:c.967A>G	NP_001120800.1:p.Ile323Val
NM_001286042.2:c.847A>G	NP_001272971.1:p.Ile283Val
NM_001286043.2:c.1054A>G	NP_001272972.1:p.Ile352Val
NM_001286044.2:c.388A>G	NP_001272973.1:p.Ile130Val