Canonical Allele Identifier: CA340815816

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76211502T>G (hg19) ; chr1:g.75745817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745817T>G , CM000663.2:g.75745817T>G	GRCh38
NC_000001.10:g.76211502T>G , CM000663.1:g.76211502T>G	GRCh37
NC_000001.9:g.75984090T>G	NCBI36
NG_007045.2:g.26460T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.611T>G MANE Select	ENSP00000359878.5:p.Leu204Trp
ENST00000473018.3:n.2735T>G
ENST00000532207.6:n.1500T>G
ENST00000541113.6:c.611T>G	ENSP00000442324.2:p.Leu204Trp
ENST00000679509.1:n.1573T>G
ENST00000679530.1:c.*379T>G	ENSP00000506454.1:n.*379T>G
ENST00000679615.1:n.2724-3602T>G
ENST00000679687.1:c.173T>G	ENSP00000506598.1:p.Leu58Trp
ENST00000679704.1:c.*377T>G	ENSP00000505117.1:n.*377T>G
ENST00000679709.1:c.*574T>G	ENSP00000506623.1:n.*574T>G
ENST00000679976.1:c.*195T>G	ENSP00000505565.1:n.*195T>G
ENST00000680166.1:n.3900T>G
ENST00000680517.1:c.*97-3602T>G	ENSP00000505803.1:n.*97-3602T>G
ENST00000680582.1:n.1573T>G
ENST00000680613.1:c.600-18T>G	ENSP00000506114.1:n.600-18T>G
ENST00000680662.1:c.*525T>G	ENSP00000505080.1:n.*525T>G
ENST00000680691.1:c.*274T>G	ENSP00000506487.1:n.*274T>G
ENST00000680694.1:c.*199T>G	ENSP00000505658.1:n.*199T>G
ENST00000680743.1:c.*278T>G	ENSP00000505073.1:n.*278T>G
ENST00000680749.1:c.600-3602T>G	ENSP00000505122.1:n.600-3602T>G
ENST00000680798.1:c.*184-3602T>G	ENSP00000505670.1:n.*184-3602T>G
ENST00000680805.1:c.611T>G	ENSP00000505447.1:p.Leu204Trp
ENST00000680844.1:c.*395T>G	ENSP00000506541.1:n.*395T>G
ENST00000680948.1:c.*478T>G	ENSP00000505441.1:n.*478T>G
ENST00000680964.1:c.611T>G	ENSP00000505961.1:p.Leu204Trp
ENST00000681037.1:c.*2113-18T>G	ENSP00000506025.1:n.*2113-18T>G
ENST00000681063.1:c.600-4634T>G	ENSP00000506616.1:n.600-4634T>G
ENST00000681209.1:c.*364-3602T>G	ENSP00000505877.1:n.*364-3602T>G
ENST00000681278.1:n.968T>G
ENST00000681289.1:n.4606T>G
ENST00000681361.1:c.*278T>G	ENSP00000506679.1:n.*278T>G
ENST00000681430.1:c.611T>G	ENSP00000506301.1:p.Leu204Trp
ENST00000681446.1:c.*193T>G	ENSP00000506244.1:n.*193T>G
ENST00000681450.1:c.*282T>G	ENSP00000505660.1:n.*282T>G
ENST00000681548.1:c.*197T>G	ENSP00000505275.1:n.*197T>G
ENST00000681616.1:c.*368-3602T>G	ENSP00000505111.1:n.*368-3602T>G
ENST00000681621.1:c.*195T>G	ENSP00000505770.1:n.*195T>G
ENST00000681680.1:n.2724-18T>G
ENST00000681720.1:c.*66T>G	ENSP00000505438.1:n.*66T>G
ENST00000681730.1:n.833T>G
ENST00000681790.1:c.353T>G	ENSP00000505130.1:p.Leu118Trp
ENST00000681837.1:n.1227T>G
ENST00000681913.1:n.2735T>G
ENST00000681916.1:c.*379T>G	ENSP00000506477.1:n.*379T>G
ENST00000681930.1:n.2735T>G
ENST00000370834.9:c.710T>G	ENSP00000359871.5:p.Leu237Trp
ENST00000370841.8:c.611T>G	ENSP00000359878.4:p.Leu204Trp
ENST00000420607.6:c.623T>G	ENSP00000409612.2:p.Leu208Trp
ENST00000525808.5:c.*197T>G	ENSP00000434823.1:n.*197T>G
ENST00000526129.5:c.*395T>G	ENSP00000434092.1:n.*395T>G
ENST00000526196.5:c.*379T>G	ENSP00000431953.1:n.*379T>G
ENST00000526930.1:n.384T>G
ENST00000529059.5:n.520T>G
ENST00000530953.6:c.*108T>G	ENSP00000431372.1:n.*108T>G
ENST00000532207.5:n.341T>G
ENST00000532509.5:c.*375T>G	ENSP00000432522.1:n.*375T>G
ENST00000534334.5:c.*195T>G	ENSP00000435584.1:n.*195T>G
ENST00000541113.5:c.503T>G	ENSP00000442324.1:p.Leu168Trp
NM_000016.5:c.611T>G	NP_000007.1:p.Leu204Trp
NM_001127328.2:c.623T>G	NP_001120800.1:p.Leu208Trp
NM_001286042.1:c.503T>G	NP_001272971.1:p.Leu168Trp
NM_001286043.1:c.710T>G	NP_001272972.1:p.Leu237Trp
NM_001286044.1:c.44T>G	NP_001272973.1:p.Leu15Trp
NM_000016.6:c.611T>G MANE Select	NP_000007.1:p.Leu204Trp
NM_001127328.3:c.623T>G	NP_001120800.1:p.Leu208Trp
NM_001286042.2:c.503T>G	NP_001272971.1:p.Leu168Trp
NM_001286043.2:c.710T>G	NP_001272972.1:p.Leu237Trp
NM_001286044.2:c.44T>G	NP_001272973.1:p.Leu15Trp