Canonical Allele Identifier: CA24609329

Gene: ACADM

Linked Data

• dbSNP Id: rs113288586
• gnomAD v4: 1-75761342-A-G
• MyVariant Identifiers: chr1:g.76227027A>G (hg19) ; chr1:g.75761342A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761342A>G , CM000663.2:g.75761342A>G	GRCh38
NC_000001.10:g.76227027A>G , CM000663.1:g.76227027A>G	GRCh37
NC_000001.9:g.75999615A>G	NCBI36
NG_007045.2:g.41985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1166A>G MANE Select	ENSP00000359878.5:p.Lys389Arg
ENST00000473018.3:n.3290A>G
ENST00000532207.6:n.2177A>G
ENST00000541113.6:c.1070A>G	ENSP00000442324.2:p.Lys357Arg
ENST00000679509.1:n.2128A>G
ENST00000679530.1:c.*934A>G	ENSP00000506454.1:n.*934A>G
ENST00000679615.1:n.3181A>G
ENST00000679687.1:c.728A>G	ENSP00000506598.1:p.Lys243Arg
ENST00000679704.1:c.*932A>G	ENSP00000505117.1:n.*932A>G
ENST00000679709.1:c.*1129A>G	ENSP00000506623.1:n.*1129A>G
ENST00000679976.1:c.*750A>G	ENSP00000505565.1:n.*750A>G
ENST00000680166.1:n.4455A>G
ENST00000680315.1:n.1049A>G
ENST00000680517.1:c.*554A>G	ENSP00000505803.1:n.*554A>G
ENST00000680582.1:n.2128A>G
ENST00000680613.1:c.*659A>G	ENSP00000506114.1:n.*659A>G
ENST00000680662.1:c.*1080A>G	ENSP00000505080.1:n.*1080A>G
ENST00000680691.1:c.*829A>G	ENSP00000506487.1:n.*829A>G
ENST00000680694.1:c.*754A>G	ENSP00000505658.1:n.*754A>G
ENST00000680743.1:c.*955A>G	ENSP00000505073.1:n.*955A>G
ENST00000680749.1:c.*451A>G	ENSP00000505122.1:n.*451A>G
ENST00000680798.1:c.*641A>G	ENSP00000505670.1:n.*641A>G
ENST00000680805.1:c.1025A>G	ENSP00000505447.1:p.Lys342Arg
ENST00000680844.1:c.*950A>G	ENSP00000506541.1:n.*950A>G
ENST00000680948.1:c.*1033A>G	ENSP00000505441.1:n.*1033A>G
ENST00000680964.1:c.*259A>G	ENSP00000505961.1:n.*259A>G
ENST00000681037.1:c.*2650A>G	ENSP00000506025.1:n.*2650A>G
ENST00000681063.1:c.*435A>G	ENSP00000506616.1:n.*435A>G
ENST00000681209.1:c.*821A>G	ENSP00000505877.1:n.*821A>G
ENST00000681278.1:n.1868A>G
ENST00000681289.1:n.5161A>G
ENST00000681361.1:c.*833A>G	ENSP00000506679.1:n.*833A>G
ENST00000681430.1:c.*259A>G	ENSP00000506301.1:n.*259A>G
ENST00000681446.1:c.*870A>G	ENSP00000506244.1:n.*870A>G
ENST00000681450.1:c.*837A>G	ENSP00000505660.1:n.*837A>G
ENST00000681548.1:c.*752A>G	ENSP00000505275.1:n.*752A>G
ENST00000681616.1:c.*825A>G	ENSP00000505111.1:n.*825A>G
ENST00000681621.1:c.*750A>G	ENSP00000505770.1:n.*750A>G
ENST00000681680.1:n.3261A>G
ENST00000681720.1:c.*621A>G	ENSP00000505438.1:n.*621A>G
ENST00000681730.1:n.1388A>G
ENST00000681790.1:c.908A>G	ENSP00000505130.1:p.Lys303Arg
ENST00000681837.1:n.1782A>G
ENST00000681913.1:n.3412A>G
ENST00000681916.1:c.*934A>G	ENSP00000506477.1:n.*934A>G
ENST00000681930.1:n.3290A>G
ENST00000370834.9:c.1265A>G	ENSP00000359871.5:p.Lys422Arg
ENST00000370841.8:c.1166A>G	ENSP00000359878.4:p.Lys389Arg
ENST00000420607.6:c.1178A>G	ENSP00000409612.2:p.Lys393Arg
ENST00000481374.1:n.439A>G
ENST00000525808.5:c.*752A>G	ENSP00000434823.1:n.*752A>G
ENST00000526129.5:c.*950A>G	ENSP00000434092.1:n.*950A>G
ENST00000526196.5:c.*934A>G	ENSP00000431953.1:n.*934A>G
ENST00000528016.1:c.160-7835A>G	ENSP00000434284.1:n.160-7835A>G
ENST00000529059.5:n.1075A>G
ENST00000541113.5:c.1058A>G	ENSP00000442324.1:p.Lys353Arg
NM_000016.5:c.1166A>G	NP_000007.1:p.Lys389Arg
NM_001127328.2:c.1178A>G	NP_001120800.1:p.Lys393Arg
NM_001286042.1:c.1058A>G	NP_001272971.1:p.Lys353Arg
NM_001286043.1:c.1265A>G	NP_001272972.1:p.Lys422Arg
NM_001286044.1:c.599A>G	NP_001272973.1:p.Lys200Arg
NM_000016.6:c.1166A>G MANE Select	NP_000007.1:p.Lys389Arg
NM_001127328.3:c.1178A>G	NP_001120800.1:p.Lys393Arg
NM_001286042.2:c.1058A>G	NP_001272971.1:p.Lys353Arg
NM_001286043.2:c.1265A>G	NP_001272972.1:p.Lys422Arg
NM_001286044.2:c.599A>G	NP_001272973.1:p.Lys200Arg