Canonical Allele Identifier: CA340817214

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216226G>T (hg19) ; chr1:g.75750541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750541G>T , CM000663.2:g.75750541G>T	GRCh38
NC_000001.10:g.76216226G>T , CM000663.1:g.76216226G>T	GRCh37
NC_000001.9:g.75988814G>T	NCBI36
NG_007045.2:g.31184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.940G>T MANE Select	ENSP00000359878.5:p.Val314Leu
ENST00000473018.3:n.3064G>T
ENST00000532207.6:n.1829G>T
ENST00000541113.6:c.849+982G>T	ENSP00000442324.2:n.849+982G>T
ENST00000679509.1:n.1902G>T
ENST00000679530.1:c.*708G>T	ENSP00000506454.1:n.*708G>T
ENST00000679615.1:n.2955G>T
ENST00000679687.1:c.502G>T	ENSP00000506598.1:p.Val168Leu
ENST00000679704.1:c.*706G>T	ENSP00000505117.1:n.*706G>T
ENST00000679709.1:c.*903G>T	ENSP00000506623.1:n.*903G>T
ENST00000679976.1:c.*524G>T	ENSP00000505565.1:n.*524G>T
ENST00000680166.1:n.4229G>T
ENST00000680315.1:n.823G>T
ENST00000680517.1:c.*328G>T	ENSP00000505803.1:n.*328G>T
ENST00000680582.1:n.1902G>T
ENST00000680613.1:c.*311G>T	ENSP00000506114.1:n.*311G>T
ENST00000680662.1:c.*854G>T	ENSP00000505080.1:n.*854G>T
ENST00000680691.1:c.*603G>T	ENSP00000506487.1:n.*603G>T
ENST00000680694.1:c.*528G>T	ENSP00000505658.1:n.*528G>T
ENST00000680743.1:c.*607G>T	ENSP00000505073.1:n.*607G>T
ENST00000680749.1:c.*225G>T	ENSP00000505122.1:n.*225G>T
ENST00000680798.1:c.*415G>T	ENSP00000505670.1:n.*415G>T
ENST00000680805.1:c.799G>T	ENSP00000505447.1:p.Val267Leu
ENST00000680844.1:c.*724G>T	ENSP00000506541.1:n.*724G>T
ENST00000680948.1:c.*807G>T	ENSP00000505441.1:n.*807G>T
ENST00000680964.1:c.940G>T	ENSP00000505961.1:p.Val314Leu
ENST00000681037.1:c.*2424G>T	ENSP00000506025.1:n.*2424G>T
ENST00000681063.1:c.*87G>T	ENSP00000506616.1:n.*87G>T
ENST00000681209.1:c.*595G>T	ENSP00000505877.1:n.*595G>T
ENST00000681278.1:n.1297G>T
ENST00000681289.1:n.4935G>T
ENST00000681361.1:c.*607G>T	ENSP00000506679.1:n.*607G>T
ENST00000681430.1:c.940G>T	ENSP00000506301.1:p.Val314Leu
ENST00000681446.1:c.*522G>T	ENSP00000506244.1:n.*522G>T
ENST00000681450.1:c.*611G>T	ENSP00000505660.1:n.*611G>T
ENST00000681548.1:c.*526G>T	ENSP00000505275.1:n.*526G>T
ENST00000681616.1:c.*599G>T	ENSP00000505111.1:n.*599G>T
ENST00000681621.1:c.*524G>T	ENSP00000505770.1:n.*524G>T
ENST00000681680.1:n.3035G>T
ENST00000681720.1:c.*395G>T	ENSP00000505438.1:n.*395G>T
ENST00000681730.1:n.1162G>T
ENST00000681790.1:c.682G>T	ENSP00000505130.1:p.Val228Leu
ENST00000681837.1:n.1556G>T
ENST00000681913.1:n.3064G>T
ENST00000681916.1:c.*708G>T	ENSP00000506477.1:n.*708G>T
ENST00000681930.1:n.3064G>T
ENST00000370834.9:c.1039G>T	ENSP00000359871.5:p.Val347Leu
ENST00000370841.8:c.940G>T	ENSP00000359878.4:p.Val314Leu
ENST00000420607.6:c.952G>T	ENSP00000409612.2:p.Val318Leu
ENST00000481374.1:n.91G>T
ENST00000525808.5:c.*526G>T	ENSP00000434823.1:n.*526G>T
ENST00000526129.5:c.*724G>T	ENSP00000434092.1:n.*724G>T
ENST00000526196.5:c.*708G>T	ENSP00000431953.1:n.*708G>T
ENST00000528016.1:c.154G>T	ENSP00000434284.1:p.Val52Leu
ENST00000529059.5:n.849G>T
ENST00000532207.5:n.670G>T
ENST00000534334.5:c.*524G>T	ENSP00000435584.1:n.*524G>T
ENST00000541113.5:c.832G>T	ENSP00000442324.1:p.Val278Leu
NM_000016.5:c.940G>T	NP_000007.1:p.Val314Leu
NM_001127328.2:c.952G>T	NP_001120800.1:p.Val318Leu
NM_001286042.1:c.832G>T	NP_001272971.1:p.Val278Leu
NM_001286043.1:c.1039G>T	NP_001272972.1:p.Val347Leu
NM_001286044.1:c.373G>T	NP_001272973.1:p.Val125Leu
NM_000016.6:c.940G>T MANE Select	NP_000007.1:p.Val314Leu
NM_001127328.3:c.952G>T	NP_001120800.1:p.Val318Leu
NM_001286042.2:c.832G>T	NP_001272971.1:p.Val278Leu
NM_001286043.2:c.1039G>T	NP_001272972.1:p.Val347Leu
NM_001286044.2:c.373G>T	NP_001272973.1:p.Val125Leu