Canonical Allele Identifier: CA340816849

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215243T>G (hg19) ; chr1:g.75749558T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749558T>G , CM000663.2:g.75749558T>G	GRCh38
NC_000001.10:g.76215243T>G , CM000663.1:g.76215243T>G	GRCh37
NC_000001.9:g.75987831T>G	NCBI36
NG_007045.2:g.30201T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.848T>G MANE Select	ENSP00000359878.5:p.Val283Gly
ENST00000473018.3:n.2972T>G
ENST00000532207.6:n.1737T>G
ENST00000541113.6:c.848T>G	ENSP00000442324.2:p.Val283Gly
ENST00000679509.1:n.1810T>G
ENST00000679530.1:c.*616T>G	ENSP00000506454.1:n.*616T>G
ENST00000679615.1:n.2863T>G
ENST00000679687.1:c.410T>G	ENSP00000506598.1:p.Val137Gly
ENST00000679704.1:c.*614T>G	ENSP00000505117.1:n.*614T>G
ENST00000679709.1:c.*811T>G	ENSP00000506623.1:n.*811T>G
ENST00000679976.1:c.*432T>G	ENSP00000505565.1:n.*432T>G
ENST00000680166.1:n.4137T>G
ENST00000680517.1:c.*236T>G	ENSP00000505803.1:n.*236T>G
ENST00000680582.1:n.1810T>G
ENST00000680613.1:c.*219T>G	ENSP00000506114.1:n.*219T>G
ENST00000680662.1:c.*762T>G	ENSP00000505080.1:n.*762T>G
ENST00000680691.1:c.*511T>G	ENSP00000506487.1:n.*511T>G
ENST00000680694.1:c.*436T>G	ENSP00000505658.1:n.*436T>G
ENST00000680743.1:c.*515T>G	ENSP00000505073.1:n.*515T>G
ENST00000680749.1:c.*133T>G	ENSP00000505122.1:n.*133T>G
ENST00000680798.1:c.*323T>G	ENSP00000505670.1:n.*323T>G
ENST00000680805.1:c.709-893T>G	ENSP00000505447.1:n.709-893T>G
ENST00000680844.1:c.*632T>G	ENSP00000506541.1:n.*632T>G
ENST00000680948.1:c.*715T>G	ENSP00000505441.1:n.*715T>G
ENST00000680964.1:c.848T>G	ENSP00000505961.1:p.Val283Gly
ENST00000681037.1:c.*2332T>G	ENSP00000506025.1:n.*2332T>G
ENST00000681063.1:c.600-893T>G	ENSP00000506616.1:n.600-893T>G
ENST00000681209.1:c.*503T>G	ENSP00000505877.1:n.*503T>G
ENST00000681278.1:n.1205T>G
ENST00000681289.1:n.4843T>G
ENST00000681361.1:c.*515T>G	ENSP00000506679.1:n.*515T>G
ENST00000681430.1:c.848T>G	ENSP00000506301.1:p.Val283Gly
ENST00000681446.1:c.*430T>G	ENSP00000506244.1:n.*430T>G
ENST00000681450.1:c.*519T>G	ENSP00000505660.1:n.*519T>G
ENST00000681548.1:c.*434T>G	ENSP00000505275.1:n.*434T>G
ENST00000681616.1:c.*507T>G	ENSP00000505111.1:n.*507T>G
ENST00000681621.1:c.*432T>G	ENSP00000505770.1:n.*432T>G
ENST00000681680.1:n.2943T>G
ENST00000681720.1:c.*303T>G	ENSP00000505438.1:n.*303T>G
ENST00000681730.1:n.1070T>G
ENST00000681790.1:c.590T>G	ENSP00000505130.1:p.Val197Gly
ENST00000681837.1:n.1464T>G
ENST00000681913.1:n.2972T>G
ENST00000681916.1:c.*616T>G	ENSP00000506477.1:n.*616T>G
ENST00000681930.1:n.2972T>G
ENST00000370834.9:c.947T>G	ENSP00000359871.5:p.Val316Gly
ENST00000370841.8:c.848T>G	ENSP00000359878.4:p.Val283Gly
ENST00000420607.6:c.860T>G	ENSP00000409612.2:p.Val287Gly
ENST00000525808.5:c.*434T>G	ENSP00000434823.1:n.*434T>G
ENST00000526129.5:c.*632T>G	ENSP00000434092.1:n.*632T>G
ENST00000526196.5:c.*616T>G	ENSP00000431953.1:n.*616T>G
ENST00000528016.1:c.62T>G	ENSP00000434284.1:p.Val21Gly
ENST00000529059.5:n.757T>G
ENST00000532207.5:n.578T>G
ENST00000534334.5:c.*432T>G	ENSP00000435584.1:n.*432T>G
ENST00000541113.5:c.740T>G	ENSP00000442324.1:p.Val247Gly
NM_000016.5:c.848T>G	NP_000007.1:p.Val283Gly
NM_001127328.2:c.860T>G	NP_001120800.1:p.Val287Gly
NM_001286042.1:c.740T>G	NP_001272971.1:p.Val247Gly
NM_001286043.1:c.947T>G	NP_001272972.1:p.Val316Gly
NM_001286044.1:c.281T>G	NP_001272973.1:p.Val94Gly
NM_000016.6:c.848T>G MANE Select	NP_000007.1:p.Val283Gly
NM_001127328.3:c.860T>G	NP_001120800.1:p.Val287Gly
NM_001286042.2:c.740T>G	NP_001272971.1:p.Val247Gly
NM_001286043.2:c.947T>G	NP_001272972.1:p.Val316Gly
NM_001286044.2:c.281T>G	NP_001272973.1:p.Val94Gly