Canonical Allele Identifier: CA913197

Gene: ACADM

Linked Data

• ClinVar Variation Id: 226088
• ClinVar RCV Id: RCV000211470
• dbSNP Id: rs373852490
• ExAC: 1:76215123 G / A
• gnomAD v2: 1-76215123-G-A
• gnomAD v3: 1-75749438-G-A
• gnomAD v4: 1-75749438-G-A
• MyVariant Identifiers: chr1:g.76215123G>A (hg19) ; chr1:g.75749438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749438G>A , CM000663.2:g.75749438G>A	GRCh38
NC_000001.10:g.76215123G>A , CM000663.1:g.76215123G>A	GRCh37
NC_000001.9:g.75987711G>A	NCBI36
NG_007045.2:g.30081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.728G>A MANE Select	ENSP00000359878.5:p.Arg243Gln
ENST00000473018.3:n.2852G>A
ENST00000532207.6:n.1617G>A
ENST00000541113.6:c.728G>A	ENSP00000442324.2:p.Arg243Gln
ENST00000679509.1:n.1690G>A
ENST00000679530.1:c.*496G>A	ENSP00000506454.1:n.*496G>A
ENST00000679615.1:n.2743G>A
ENST00000679687.1:c.290G>A	ENSP00000506598.1:p.Arg97Gln
ENST00000679704.1:c.*494G>A	ENSP00000505117.1:n.*494G>A
ENST00000679709.1:c.*691G>A	ENSP00000506623.1:n.*691G>A
ENST00000679976.1:c.*312G>A	ENSP00000505565.1:n.*312G>A
ENST00000680166.1:n.4017G>A
ENST00000680517.1:c.*116G>A	ENSP00000505803.1:n.*116G>A
ENST00000680582.1:n.1690G>A
ENST00000680613.1:c.*99G>A	ENSP00000506114.1:n.*99G>A
ENST00000680662.1:c.*642G>A	ENSP00000505080.1:n.*642G>A
ENST00000680691.1:c.*391G>A	ENSP00000506487.1:n.*391G>A
ENST00000680694.1:c.*316G>A	ENSP00000505658.1:n.*316G>A
ENST00000680743.1:c.*395G>A	ENSP00000505073.1:n.*395G>A
ENST00000680749.1:c.*13G>A	ENSP00000505122.1:n.*13G>A
ENST00000680798.1:c.*203G>A	ENSP00000505670.1:n.*203G>A
ENST00000680805.1:c.709-1013G>A	ENSP00000505447.1:n.709-1013G>A
ENST00000680844.1:c.*512G>A	ENSP00000506541.1:n.*512G>A
ENST00000680948.1:c.*595G>A	ENSP00000505441.1:n.*595G>A
ENST00000680964.1:c.728G>A	ENSP00000505961.1:p.Arg243Gln
ENST00000681037.1:c.*2212G>A	ENSP00000506025.1:n.*2212G>A
ENST00000681063.1:c.600-1013G>A	ENSP00000506616.1:n.600-1013G>A
ENST00000681209.1:c.*383G>A	ENSP00000505877.1:n.*383G>A
ENST00000681278.1:n.1085G>A
ENST00000681289.1:n.4723G>A
ENST00000681361.1:c.*395G>A	ENSP00000506679.1:n.*395G>A
ENST00000681430.1:c.728G>A	ENSP00000506301.1:p.Arg243Gln
ENST00000681446.1:c.*310G>A	ENSP00000506244.1:n.*310G>A
ENST00000681450.1:c.*399G>A	ENSP00000505660.1:n.*399G>A
ENST00000681548.1:c.*314G>A	ENSP00000505275.1:n.*314G>A
ENST00000681616.1:c.*387G>A	ENSP00000505111.1:n.*387G>A
ENST00000681621.1:c.*312G>A	ENSP00000505770.1:n.*312G>A
ENST00000681680.1:n.2823G>A
ENST00000681720.1:c.*183G>A	ENSP00000505438.1:n.*183G>A
ENST00000681730.1:n.950G>A
ENST00000681790.1:c.470G>A	ENSP00000505130.1:p.Arg157Gln
ENST00000681837.1:n.1344G>A
ENST00000681913.1:n.2852G>A
ENST00000681916.1:c.*496G>A	ENSP00000506477.1:n.*496G>A
ENST00000681930.1:n.2852G>A
ENST00000370834.9:c.827G>A	ENSP00000359871.5:p.Arg276Gln
ENST00000370841.8:c.728G>A	ENSP00000359878.4:p.Arg243Gln
ENST00000420607.6:c.740G>A	ENSP00000409612.2:p.Arg247Gln
ENST00000525808.5:c.*314G>A	ENSP00000434823.1:n.*314G>A
ENST00000526129.5:c.*512G>A	ENSP00000434092.1:n.*512G>A
ENST00000526196.5:c.*496G>A	ENSP00000431953.1:n.*496G>A
ENST00000526930.1:n.501G>A
ENST00000529059.5:n.637G>A
ENST00000530953.6:c.*225G>A	ENSP00000431372.1:n.*225G>A
ENST00000532207.5:n.458G>A
ENST00000532509.5:c.*492G>A	ENSP00000432522.1:n.*492G>A
ENST00000534334.5:c.*312G>A	ENSP00000435584.1:n.*312G>A
ENST00000541113.5:c.620G>A	ENSP00000442324.1:p.Arg207Gln
NM_000016.5:c.728G>A	NP_000007.1:p.Arg243Gln
NM_001127328.2:c.740G>A	NP_001120800.1:p.Arg247Gln
NM_001286042.1:c.620G>A	NP_001272971.1:p.Arg207Gln
NM_001286043.1:c.827G>A	NP_001272972.1:p.Arg276Gln
NM_001286044.1:c.161G>A	NP_001272973.1:p.Arg54Gln
NM_000016.6:c.728G>A MANE Select	NP_000007.1:p.Arg243Gln
NM_001127328.3:c.740G>A	NP_001120800.1:p.Arg247Gln
NM_001286042.2:c.620G>A	NP_001272971.1:p.Arg207Gln
NM_001286043.2:c.827G>A	NP_001272972.1:p.Arg276Gln
NM_001286044.2:c.161G>A	NP_001272973.1:p.Arg54Gln