Canonical Allele Identifier: CA340817885

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226829T>G (hg19) ; chr1:g.75761144T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761144T>G , CM000663.2:g.75761144T>G	GRCh38
NC_000001.10:g.76226829T>G , CM000663.1:g.76226829T>G	GRCh37
NC_000001.9:g.75999417T>G	NCBI36
NG_007045.2:g.41787T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.968T>G MANE Select	ENSP00000359878.5:p.Leu323Arg
ENST00000473018.3:n.3092T>G
ENST00000532207.6:n.1979T>G
ENST00000541113.6:c.872T>G	ENSP00000442324.2:p.Leu291Arg
ENST00000679509.1:n.1930T>G
ENST00000679530.1:c.*736T>G	ENSP00000506454.1:n.*736T>G
ENST00000679615.1:n.2983T>G
ENST00000679687.1:c.530T>G	ENSP00000506598.1:p.Leu177Arg
ENST00000679704.1:c.*734T>G	ENSP00000505117.1:n.*734T>G
ENST00000679709.1:c.*931T>G	ENSP00000506623.1:n.*931T>G
ENST00000679976.1:c.*552T>G	ENSP00000505565.1:n.*552T>G
ENST00000680166.1:n.4257T>G
ENST00000680315.1:n.851T>G
ENST00000680517.1:c.*356T>G	ENSP00000505803.1:n.*356T>G
ENST00000680582.1:n.1930T>G
ENST00000680613.1:c.*461T>G	ENSP00000506114.1:n.*461T>G
ENST00000680662.1:c.*882T>G	ENSP00000505080.1:n.*882T>G
ENST00000680691.1:c.*631T>G	ENSP00000506487.1:n.*631T>G
ENST00000680694.1:c.*556T>G	ENSP00000505658.1:n.*556T>G
ENST00000680743.1:c.*757T>G	ENSP00000505073.1:n.*757T>G
ENST00000680749.1:c.*253T>G	ENSP00000505122.1:n.*253T>G
ENST00000680798.1:c.*443T>G	ENSP00000505670.1:n.*443T>G
ENST00000680805.1:c.827T>G	ENSP00000505447.1:p.Leu276Arg
ENST00000680844.1:c.*752T>G	ENSP00000506541.1:n.*752T>G
ENST00000680948.1:c.*835T>G	ENSP00000505441.1:n.*835T>G
ENST00000680964.1:c.*61T>G	ENSP00000505961.1:n.*61T>G
ENST00000681037.1:c.*2452T>G	ENSP00000506025.1:n.*2452T>G
ENST00000681063.1:c.*237T>G	ENSP00000506616.1:n.*237T>G
ENST00000681209.1:c.*623T>G	ENSP00000505877.1:n.*623T>G
ENST00000681278.1:n.1670T>G
ENST00000681289.1:n.4963T>G
ENST00000681361.1:c.*635T>G	ENSP00000506679.1:n.*635T>G
ENST00000681430.1:c.*61T>G	ENSP00000506301.1:n.*61T>G
ENST00000681446.1:c.*672T>G	ENSP00000506244.1:n.*672T>G
ENST00000681450.1:c.*639T>G	ENSP00000505660.1:n.*639T>G
ENST00000681548.1:c.*554T>G	ENSP00000505275.1:n.*554T>G
ENST00000681616.1:c.*627T>G	ENSP00000505111.1:n.*627T>G
ENST00000681621.1:c.*552T>G	ENSP00000505770.1:n.*552T>G
ENST00000681680.1:n.3063T>G
ENST00000681720.1:c.*423T>G	ENSP00000505438.1:n.*423T>G
ENST00000681730.1:n.1190T>G
ENST00000681790.1:c.710T>G	ENSP00000505130.1:p.Leu237Arg
ENST00000681837.1:n.1584T>G
ENST00000681913.1:n.3214T>G
ENST00000681916.1:c.*736T>G	ENSP00000506477.1:n.*736T>G
ENST00000681930.1:n.3092T>G
ENST00000370834.9:c.1067T>G	ENSP00000359871.5:p.Leu356Arg
ENST00000370841.8:c.968T>G	ENSP00000359878.4:p.Leu323Arg
ENST00000420607.6:c.980T>G	ENSP00000409612.2:p.Leu327Arg
ENST00000481374.1:n.241T>G
ENST00000525808.5:c.*554T>G	ENSP00000434823.1:n.*554T>G
ENST00000526129.5:c.*752T>G	ENSP00000434092.1:n.*752T>G
ENST00000526196.5:c.*736T>G	ENSP00000431953.1:n.*736T>G
ENST00000528016.1:c.160-8033T>G	ENSP00000434284.1:n.160-8033T>G
ENST00000529059.5:n.877T>G
ENST00000532207.5:n.698T>G
ENST00000534334.5:c.*709T>G	ENSP00000435584.1:n.*709T>G
ENST00000541113.5:c.860T>G	ENSP00000442324.1:p.Leu287Arg
NM_000016.5:c.968T>G	NP_000007.1:p.Leu323Arg
NM_001127328.2:c.980T>G	NP_001120800.1:p.Leu327Arg
NM_001286042.1:c.860T>G	NP_001272971.1:p.Leu287Arg
NM_001286043.1:c.1067T>G	NP_001272972.1:p.Leu356Arg
NM_001286044.1:c.401T>G	NP_001272973.1:p.Leu134Arg
NM_000016.6:c.968T>G MANE Select	NP_000007.1:p.Leu323Arg
NM_001127328.3:c.980T>G	NP_001120800.1:p.Leu327Arg
NM_001286042.2:c.860T>G	NP_001272971.1:p.Leu287Arg
NM_001286043.2:c.1067T>G	NP_001272972.1:p.Leu356Arg
NM_001286044.2:c.401T>G	NP_001272973.1:p.Leu134Arg