Canonical Allele Identifier: CA340817004

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216166A>G (hg19) ; chr1:g.75750481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750481A>G , CM000663.2:g.75750481A>G	GRCh38
NC_000001.10:g.76216166A>G , CM000663.1:g.76216166A>G	GRCh37
NC_000001.9:g.75988754A>G	NCBI36
NG_007045.2:g.31124A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.880A>G MANE Select	ENSP00000359878.5:p.Arg294Gly
ENST00000473018.3:n.3004A>G
ENST00000532207.6:n.1769A>G
ENST00000541113.6:c.849+922A>G	ENSP00000442324.2:n.849+922A>G
ENST00000679509.1:n.1842A>G
ENST00000679530.1:c.*648A>G	ENSP00000506454.1:n.*648A>G
ENST00000679615.1:n.2895A>G
ENST00000679687.1:c.442A>G	ENSP00000506598.1:p.Arg148Gly
ENST00000679704.1:c.*646A>G	ENSP00000505117.1:n.*646A>G
ENST00000679709.1:c.*843A>G	ENSP00000506623.1:n.*843A>G
ENST00000679976.1:c.*464A>G	ENSP00000505565.1:n.*464A>G
ENST00000680166.1:n.4169A>G
ENST00000680315.1:n.763A>G
ENST00000680517.1:c.*268A>G	ENSP00000505803.1:n.*268A>G
ENST00000680582.1:n.1842A>G
ENST00000680613.1:c.*251A>G	ENSP00000506114.1:n.*251A>G
ENST00000680662.1:c.*794A>G	ENSP00000505080.1:n.*794A>G
ENST00000680691.1:c.*543A>G	ENSP00000506487.1:n.*543A>G
ENST00000680694.1:c.*468A>G	ENSP00000505658.1:n.*468A>G
ENST00000680743.1:c.*547A>G	ENSP00000505073.1:n.*547A>G
ENST00000680749.1:c.*165A>G	ENSP00000505122.1:n.*165A>G
ENST00000680798.1:c.*355A>G	ENSP00000505670.1:n.*355A>G
ENST00000680805.1:c.739A>G	ENSP00000505447.1:p.Arg247Gly
ENST00000680844.1:c.*664A>G	ENSP00000506541.1:n.*664A>G
ENST00000680948.1:c.*747A>G	ENSP00000505441.1:n.*747A>G
ENST00000680964.1:c.880A>G	ENSP00000505961.1:p.Arg294Gly
ENST00000681037.1:c.*2364A>G	ENSP00000506025.1:n.*2364A>G
ENST00000681063.1:c.*27A>G	ENSP00000506616.1:n.*27A>G
ENST00000681209.1:c.*535A>G	ENSP00000505877.1:n.*535A>G
ENST00000681278.1:n.1237A>G
ENST00000681289.1:n.4875A>G
ENST00000681361.1:c.*547A>G	ENSP00000506679.1:n.*547A>G
ENST00000681430.1:c.880A>G	ENSP00000506301.1:p.Arg294Gly
ENST00000681446.1:c.*462A>G	ENSP00000506244.1:n.*462A>G
ENST00000681450.1:c.*551A>G	ENSP00000505660.1:n.*551A>G
ENST00000681548.1:c.*466A>G	ENSP00000505275.1:n.*466A>G
ENST00000681616.1:c.*539A>G	ENSP00000505111.1:n.*539A>G
ENST00000681621.1:c.*464A>G	ENSP00000505770.1:n.*464A>G
ENST00000681680.1:n.2975A>G
ENST00000681720.1:c.*335A>G	ENSP00000505438.1:n.*335A>G
ENST00000681730.1:n.1102A>G
ENST00000681790.1:c.622A>G	ENSP00000505130.1:p.Arg208Gly
ENST00000681837.1:n.1496A>G
ENST00000681913.1:n.3004A>G
ENST00000681916.1:c.*648A>G	ENSP00000506477.1:n.*648A>G
ENST00000681930.1:n.3004A>G
ENST00000370834.9:c.979A>G	ENSP00000359871.5:p.Arg327Gly
ENST00000370841.8:c.880A>G	ENSP00000359878.4:p.Arg294Gly
ENST00000420607.6:c.892A>G	ENSP00000409612.2:p.Arg298Gly
ENST00000481374.1:n.31A>G
ENST00000525808.5:c.*466A>G	ENSP00000434823.1:n.*466A>G
ENST00000526129.5:c.*664A>G	ENSP00000434092.1:n.*664A>G
ENST00000526196.5:c.*648A>G	ENSP00000431953.1:n.*648A>G
ENST00000528016.1:c.94A>G	ENSP00000434284.1:p.Arg32Gly
ENST00000529059.5:n.789A>G
ENST00000532207.5:n.610A>G
ENST00000534334.5:c.*464A>G	ENSP00000435584.1:n.*464A>G
ENST00000541113.5:c.772A>G	ENSP00000442324.1:p.Arg258Gly
NM_000016.5:c.880A>G	NP_000007.1:p.Arg294Gly
NM_001127328.2:c.892A>G	NP_001120800.1:p.Arg298Gly
NM_001286042.1:c.772A>G	NP_001272971.1:p.Arg258Gly
NM_001286043.1:c.979A>G	NP_001272972.1:p.Arg327Gly
NM_001286044.1:c.313A>G	NP_001272973.1:p.Arg105Gly
NM_000016.6:c.880A>G MANE Select	NP_000007.1:p.Arg294Gly
NM_001127328.3:c.892A>G	NP_001120800.1:p.Arg298Gly
NM_001286042.2:c.772A>G	NP_001272971.1:p.Arg258Gly
NM_001286043.2:c.979A>G	NP_001272972.1:p.Arg327Gly
NM_001286044.2:c.313A>G	NP_001272973.1:p.Arg105Gly