Canonical Allele Identifier: CA913203

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2162891
• ClinVar RCV Id: RCV003091508 ; RCV003091509
• dbSNP Id: rs570815181
• ExAC: 1:76215170 A / G
• gnomAD v2: 1-76215170-A-G
• gnomAD v3: 1-75749485-A-G
• gnomAD v4: 1-75749485-A-G
• MyVariant Identifiers: chr1:g.76215170A>G (hg19) ; chr1:g.75749485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749485A>G , CM000663.2:g.75749485A>G	GRCh38
NC_000001.10:g.76215170A>G , CM000663.1:g.76215170A>G	GRCh37
NC_000001.9:g.75987758A>G	NCBI36
NG_007045.2:g.30128A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.775A>G MANE Select	ENSP00000359878.5:p.Lys259Glu
ENST00000473018.3:n.2899A>G
ENST00000532207.6:n.1664A>G
ENST00000541113.6:c.775A>G	ENSP00000442324.2:p.Lys259Glu
ENST00000679509.1:n.1737A>G
ENST00000679530.1:c.*543A>G	ENSP00000506454.1:n.*543A>G
ENST00000679615.1:n.2790A>G
ENST00000679687.1:c.337A>G	ENSP00000506598.1:p.Lys113Glu
ENST00000679704.1:c.*541A>G	ENSP00000505117.1:n.*541A>G
ENST00000679709.1:c.*738A>G	ENSP00000506623.1:n.*738A>G
ENST00000679976.1:c.*359A>G	ENSP00000505565.1:n.*359A>G
ENST00000680166.1:n.4064A>G
ENST00000680517.1:c.*163A>G	ENSP00000505803.1:n.*163A>G
ENST00000680582.1:n.1737A>G
ENST00000680613.1:c.*146A>G	ENSP00000506114.1:n.*146A>G
ENST00000680662.1:c.*689A>G	ENSP00000505080.1:n.*689A>G
ENST00000680691.1:c.*438A>G	ENSP00000506487.1:n.*438A>G
ENST00000680694.1:c.*363A>G	ENSP00000505658.1:n.*363A>G
ENST00000680743.1:c.*442A>G	ENSP00000505073.1:n.*442A>G
ENST00000680749.1:c.*60A>G	ENSP00000505122.1:n.*60A>G
ENST00000680798.1:c.*250A>G	ENSP00000505670.1:n.*250A>G
ENST00000680805.1:c.709-966A>G	ENSP00000505447.1:n.709-966A>G
ENST00000680844.1:c.*559A>G	ENSP00000506541.1:n.*559A>G
ENST00000680948.1:c.*642A>G	ENSP00000505441.1:n.*642A>G
ENST00000680964.1:c.775A>G	ENSP00000505961.1:p.Lys259Glu
ENST00000681037.1:c.*2259A>G	ENSP00000506025.1:n.*2259A>G
ENST00000681063.1:c.600-966A>G	ENSP00000506616.1:n.600-966A>G
ENST00000681209.1:c.*430A>G	ENSP00000505877.1:n.*430A>G
ENST00000681278.1:n.1132A>G
ENST00000681289.1:n.4770A>G
ENST00000681361.1:c.*442A>G	ENSP00000506679.1:n.*442A>G
ENST00000681430.1:c.775A>G	ENSP00000506301.1:p.Lys259Glu
ENST00000681446.1:c.*357A>G	ENSP00000506244.1:n.*357A>G
ENST00000681450.1:c.*446A>G	ENSP00000505660.1:n.*446A>G
ENST00000681548.1:c.*361A>G	ENSP00000505275.1:n.*361A>G
ENST00000681616.1:c.*434A>G	ENSP00000505111.1:n.*434A>G
ENST00000681621.1:c.*359A>G	ENSP00000505770.1:n.*359A>G
ENST00000681680.1:n.2870A>G
ENST00000681720.1:c.*230A>G	ENSP00000505438.1:n.*230A>G
ENST00000681730.1:n.997A>G
ENST00000681790.1:c.517A>G	ENSP00000505130.1:p.Lys173Glu
ENST00000681837.1:n.1391A>G
ENST00000681913.1:n.2899A>G
ENST00000681916.1:c.*543A>G	ENSP00000506477.1:n.*543A>G
ENST00000681930.1:n.2899A>G
ENST00000370834.9:c.874A>G	ENSP00000359871.5:p.Lys292Glu
ENST00000370841.8:c.775A>G	ENSP00000359878.4:p.Lys259Glu
ENST00000420607.6:c.787A>G	ENSP00000409612.2:p.Lys263Glu
ENST00000525808.5:c.*361A>G	ENSP00000434823.1:n.*361A>G
ENST00000526129.5:c.*559A>G	ENSP00000434092.1:n.*559A>G
ENST00000526196.5:c.*543A>G	ENSP00000431953.1:n.*543A>G
ENST00000526930.1:n.548A>G
ENST00000529059.5:n.684A>G
ENST00000530953.6:c.*272A>G	ENSP00000431372.1:n.*272A>G
ENST00000532207.5:n.505A>G
ENST00000532509.5:c.*539A>G	ENSP00000432522.1:n.*539A>G
ENST00000534334.5:c.*359A>G	ENSP00000435584.1:n.*359A>G
ENST00000541113.5:c.667A>G	ENSP00000442324.1:p.Lys223Glu
NM_000016.5:c.775A>G	NP_000007.1:p.Lys259Glu
NM_001127328.2:c.787A>G	NP_001120800.1:p.Lys263Glu
NM_001286042.1:c.667A>G	NP_001272971.1:p.Lys223Glu
NM_001286043.1:c.874A>G	NP_001272972.1:p.Lys292Glu
NM_001286044.1:c.208A>G	NP_001272973.1:p.Lys70Glu
NM_000016.6:c.775A>G MANE Select	NP_000007.1:p.Lys259Glu
NM_001127328.3:c.787A>G	NP_001120800.1:p.Lys263Glu
NM_001286042.2:c.667A>G	NP_001272971.1:p.Lys223Glu
NM_001286043.2:c.874A>G	NP_001272972.1:p.Lys292Glu
NM_001286044.2:c.208A>G	NP_001272973.1:p.Lys70Glu