Canonical Allele Identifier: CA340817891

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761147-C-T
• MyVariant Identifiers: chr1:g.76226832C>T (hg19) ; chr1:g.75761147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761147C>T , CM000663.2:g.75761147C>T	GRCh38
NC_000001.10:g.76226832C>T , CM000663.1:g.76226832C>T	GRCh37
NC_000001.9:g.75999420C>T	NCBI36
NG_007045.2:g.41790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.971C>T MANE Select	ENSP00000359878.5:p.Ala324Val
ENST00000473018.3:n.3095C>T
ENST00000532207.6:n.1982C>T
ENST00000541113.6:c.875C>T	ENSP00000442324.2:p.Ala292Val
ENST00000679509.1:n.1933C>T
ENST00000679530.1:c.*739C>T	ENSP00000506454.1:n.*739C>T
ENST00000679615.1:n.2986C>T
ENST00000679687.1:c.533C>T	ENSP00000506598.1:p.Ala178Val
ENST00000679704.1:c.*737C>T	ENSP00000505117.1:n.*737C>T
ENST00000679709.1:c.*934C>T	ENSP00000506623.1:n.*934C>T
ENST00000679976.1:c.*555C>T	ENSP00000505565.1:n.*555C>T
ENST00000680166.1:n.4260C>T
ENST00000680315.1:n.854C>T
ENST00000680517.1:c.*359C>T	ENSP00000505803.1:n.*359C>T
ENST00000680582.1:n.1933C>T
ENST00000680613.1:c.*464C>T	ENSP00000506114.1:n.*464C>T
ENST00000680662.1:c.*885C>T	ENSP00000505080.1:n.*885C>T
ENST00000680691.1:c.*634C>T	ENSP00000506487.1:n.*634C>T
ENST00000680694.1:c.*559C>T	ENSP00000505658.1:n.*559C>T
ENST00000680743.1:c.*760C>T	ENSP00000505073.1:n.*760C>T
ENST00000680749.1:c.*256C>T	ENSP00000505122.1:n.*256C>T
ENST00000680798.1:c.*446C>T	ENSP00000505670.1:n.*446C>T
ENST00000680805.1:c.830C>T	ENSP00000505447.1:p.Ala277Val
ENST00000680844.1:c.*755C>T	ENSP00000506541.1:n.*755C>T
ENST00000680948.1:c.*838C>T	ENSP00000505441.1:n.*838C>T
ENST00000680964.1:c.*64C>T	ENSP00000505961.1:n.*64C>T
ENST00000681037.1:c.*2455C>T	ENSP00000506025.1:n.*2455C>T
ENST00000681063.1:c.*240C>T	ENSP00000506616.1:n.*240C>T
ENST00000681209.1:c.*626C>T	ENSP00000505877.1:n.*626C>T
ENST00000681278.1:n.1673C>T
ENST00000681289.1:n.4966C>T
ENST00000681361.1:c.*638C>T	ENSP00000506679.1:n.*638C>T
ENST00000681430.1:c.*64C>T	ENSP00000506301.1:n.*64C>T
ENST00000681446.1:c.*675C>T	ENSP00000506244.1:n.*675C>T
ENST00000681450.1:c.*642C>T	ENSP00000505660.1:n.*642C>T
ENST00000681548.1:c.*557C>T	ENSP00000505275.1:n.*557C>T
ENST00000681616.1:c.*630C>T	ENSP00000505111.1:n.*630C>T
ENST00000681621.1:c.*555C>T	ENSP00000505770.1:n.*555C>T
ENST00000681680.1:n.3066C>T
ENST00000681720.1:c.*426C>T	ENSP00000505438.1:n.*426C>T
ENST00000681730.1:n.1193C>T
ENST00000681790.1:c.713C>T	ENSP00000505130.1:p.Ala238Val
ENST00000681837.1:n.1587C>T
ENST00000681913.1:n.3217C>T
ENST00000681916.1:c.*739C>T	ENSP00000506477.1:n.*739C>T
ENST00000681930.1:n.3095C>T
ENST00000370834.9:c.1070C>T	ENSP00000359871.5:p.Ala357Val
ENST00000370841.8:c.971C>T	ENSP00000359878.4:p.Ala324Val
ENST00000420607.6:c.983C>T	ENSP00000409612.2:p.Ala328Val
ENST00000481374.1:n.244C>T
ENST00000525808.5:c.*557C>T	ENSP00000434823.1:n.*557C>T
ENST00000526129.5:c.*755C>T	ENSP00000434092.1:n.*755C>T
ENST00000526196.5:c.*739C>T	ENSP00000431953.1:n.*739C>T
ENST00000528016.1:c.160-8030C>T	ENSP00000434284.1:n.160-8030C>T
ENST00000529059.5:n.880C>T
ENST00000532207.5:n.701C>T
ENST00000534334.5:c.*712C>T	ENSP00000435584.1:n.*712C>T
ENST00000541113.5:c.863C>T	ENSP00000442324.1:p.Ala288Val
NM_000016.5:c.971C>T	NP_000007.1:p.Ala324Val
NM_001127328.2:c.983C>T	NP_001120800.1:p.Ala328Val
NM_001286042.1:c.863C>T	NP_001272971.1:p.Ala288Val
NM_001286043.1:c.1070C>T	NP_001272972.1:p.Ala357Val
NM_001286044.1:c.404C>T	NP_001272973.1:p.Ala135Val
NM_000016.6:c.971C>T MANE Select	NP_000007.1:p.Ala324Val
NM_001127328.3:c.983C>T	NP_001120800.1:p.Ala328Val
NM_001286042.2:c.863C>T	NP_001272971.1:p.Ala288Val
NM_001286043.2:c.1070C>T	NP_001272972.1:p.Ala357Val
NM_001286044.2:c.404C>T	NP_001272973.1:p.Ala135Val