Canonical Allele Identifier: CA418707497

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761157-A-G
• MyVariant Identifiers: chr1:g.76226842A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761157A>G , CM000663.2:g.75761157A>G	GRCh38
NC_000001.10:g.76226842A>G , CM000663.1:g.76226842A>G	GRCh37
NC_000001.9:g.75999430A>G	NCBI36
NG_007045.2:g.41800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.981A>G MANE Select	ENSP00000359878.5:p.Ala327=
ENST00000473018.3:n.3105A>G
ENST00000532207.6:n.1992A>G
ENST00000541113.6:c.885A>G	ENSP00000442324.2:p.Ala295=
ENST00000679509.1:n.1943A>G
ENST00000679530.1:c.*749A>G	ENSP00000506454.1:n.*749A>G
ENST00000679615.1:n.2996A>G
ENST00000679687.1:c.543A>G	ENSP00000506598.1:p.Ala181=
ENST00000679704.1:c.*747A>G	ENSP00000505117.1:n.*747A>G
ENST00000679709.1:c.*944A>G	ENSP00000506623.1:n.*944A>G
ENST00000679976.1:c.*565A>G	ENSP00000505565.1:n.*565A>G
ENST00000680166.1:n.4270A>G
ENST00000680315.1:n.864A>G
ENST00000680517.1:c.*369A>G	ENSP00000505803.1:n.*369A>G
ENST00000680582.1:n.1943A>G
ENST00000680613.1:c.*474A>G	ENSP00000506114.1:n.*474A>G
ENST00000680662.1:c.*895A>G	ENSP00000505080.1:n.*895A>G
ENST00000680691.1:c.*644A>G	ENSP00000506487.1:n.*644A>G
ENST00000680694.1:c.*569A>G	ENSP00000505658.1:n.*569A>G
ENST00000680743.1:c.*770A>G	ENSP00000505073.1:n.*770A>G
ENST00000680749.1:c.*266A>G	ENSP00000505122.1:n.*266A>G
ENST00000680798.1:c.*456A>G	ENSP00000505670.1:n.*456A>G
ENST00000680805.1:c.840A>G	ENSP00000505447.1:p.Ala280=
ENST00000680844.1:c.*765A>G	ENSP00000506541.1:n.*765A>G
ENST00000680948.1:c.*848A>G	ENSP00000505441.1:n.*848A>G
ENST00000680964.1:c.*74A>G	ENSP00000505961.1:n.*74A>G
ENST00000681037.1:c.*2465A>G	ENSP00000506025.1:n.*2465A>G
ENST00000681063.1:c.*250A>G	ENSP00000506616.1:n.*250A>G
ENST00000681209.1:c.*636A>G	ENSP00000505877.1:n.*636A>G
ENST00000681278.1:n.1683A>G
ENST00000681289.1:n.4976A>G
ENST00000681361.1:c.*648A>G	ENSP00000506679.1:n.*648A>G
ENST00000681430.1:c.*74A>G	ENSP00000506301.1:n.*74A>G
ENST00000681446.1:c.*685A>G	ENSP00000506244.1:n.*685A>G
ENST00000681450.1:c.*652A>G	ENSP00000505660.1:n.*652A>G
ENST00000681548.1:c.*567A>G	ENSP00000505275.1:n.*567A>G
ENST00000681616.1:c.*640A>G	ENSP00000505111.1:n.*640A>G
ENST00000681621.1:c.*565A>G	ENSP00000505770.1:n.*565A>G
ENST00000681680.1:n.3076A>G
ENST00000681720.1:c.*436A>G	ENSP00000505438.1:n.*436A>G
ENST00000681730.1:n.1203A>G
ENST00000681790.1:c.723A>G	ENSP00000505130.1:p.Ala241=
ENST00000681837.1:n.1597A>G
ENST00000681913.1:n.3227A>G
ENST00000681916.1:c.*749A>G	ENSP00000506477.1:n.*749A>G
ENST00000681930.1:n.3105A>G
ENST00000370834.9:c.1080A>G	ENSP00000359871.5:p.Ala360=
ENST00000370841.8:c.981A>G	ENSP00000359878.4:p.Ala327=
ENST00000420607.6:c.993A>G	ENSP00000409612.2:p.Ala331=
ENST00000481374.1:n.254A>G
ENST00000525808.5:c.*567A>G	ENSP00000434823.1:n.*567A>G
ENST00000526129.5:c.*765A>G	ENSP00000434092.1:n.*765A>G
ENST00000526196.5:c.*749A>G	ENSP00000431953.1:n.*749A>G
ENST00000528016.1:c.160-8020A>G	ENSP00000434284.1:n.160-8020A>G
ENST00000529059.5:n.890A>G
ENST00000532207.5:n.711A>G
ENST00000534334.5:c.*722A>G	ENSP00000435584.1:n.*722A>G
ENST00000541113.5:c.873A>G	ENSP00000442324.1:p.Ala291=
NM_000016.5:c.981A>G	NP_000007.1:p.Ala327=
NM_001127328.2:c.993A>G	NP_001120800.1:p.Ala331=
NM_001286042.1:c.873A>G	NP_001272971.1:p.Ala291=
NM_001286043.1:c.1080A>G	NP_001272972.1:p.Ala360=
NM_001286044.1:c.414A>G	NP_001272973.1:p.Ala138=
NM_000016.6:c.981A>G MANE Select	NP_000007.1:p.Ala327=
NM_001127328.3:c.993A>G	NP_001120800.1:p.Ala331=
NM_001286042.2:c.873A>G	NP_001272971.1:p.Ala291=
NM_001286043.2:c.1080A>G	NP_001272972.1:p.Ala360=
NM_001286044.2:c.414A>G	NP_001272973.1:p.Ala138=