Canonical Allele Identifier: CA340815101

Gene: ACADM

Linked Data

• ClinVar Variation Id: 495343
• ClinVar RCV Id: RCV000588049 ; RCV001002215
• dbSNP Id: rs200754053
• gnomAD v2: 1-76205722-G-A
• gnomAD v3: 1-75740037-G-A
• gnomAD v4: 1-75740037-G-A
• MyVariant Identifiers: chr1:g.76205722G>A (hg19) ; chr1:g.75740037G>A (hg38)
• PubMed: PMID:18241067 ; PMID:20036593 ; PMID:20434380

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740037G>A , CM000663.2:g.75740037G>A	GRCh38
NC_000001.10:g.76205722G>A , CM000663.1:g.76205722G>A	GRCh37
NC_000001.9:g.75978310G>A	NCBI36
NG_007045.2:g.20680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.526G>A MANE Select	ENSP00000359878.5:p.Ala176Thr
ENST00000473018.3:n.2650G>A
ENST00000541113.6:c.526G>A	ENSP00000442324.2:p.Ala176Thr
ENST00000679509.1:n.1488G>A
ENST00000679530.1:c.*294G>A	ENSP00000506454.1:n.*294G>A
ENST00000679615.1:n.2650G>A
ENST00000679687.1:c.88G>A	ENSP00000506598.1:p.Ala30Thr
ENST00000679704.1:c.*292G>A	ENSP00000505117.1:n.*292G>A
ENST00000679709.1:c.*489G>A	ENSP00000506623.1:n.*489G>A
ENST00000679804.1:n.265G>A
ENST00000679976.1:c.*110G>A	ENSP00000505565.1:n.*110G>A
ENST00000680166.1:n.3815G>A
ENST00000680517.1:c.*23G>A	ENSP00000505803.1:n.*23G>A
ENST00000680582.1:n.1488G>A
ENST00000680613.1:c.526G>A	ENSP00000506114.1:p.Ala176Thr
ENST00000680662.1:c.*440G>A	ENSP00000505080.1:n.*440G>A
ENST00000680691.1:c.*189G>A	ENSP00000506487.1:n.*189G>A
ENST00000680694.1:c.*114G>A	ENSP00000505658.1:n.*114G>A
ENST00000680743.1:c.*193G>A	ENSP00000505073.1:n.*193G>A
ENST00000680749.1:c.526G>A	ENSP00000505122.1:p.Ala176Thr
ENST00000680798.1:c.*110G>A	ENSP00000505670.1:n.*110G>A
ENST00000680805.1:c.526G>A	ENSP00000505447.1:p.Ala176Thr
ENST00000680844.1:c.*310G>A	ENSP00000506541.1:n.*310G>A
ENST00000680948.1:c.*393G>A	ENSP00000505441.1:n.*393G>A
ENST00000680964.1:c.526G>A	ENSP00000505961.1:p.Ala176Thr
ENST00000681037.1:c.526G>A	ENSP00000506025.1:p.Ala176Thr
ENST00000681063.1:c.526G>A	ENSP00000506616.1:p.Ala176Thr
ENST00000681209.1:c.*290G>A	ENSP00000505877.1:n.*290G>A
ENST00000681278.1:n.883G>A
ENST00000681289.1:n.883G>A
ENST00000681361.1:c.*193G>A	ENSP00000506679.1:n.*193G>A
ENST00000681430.1:c.526G>A	ENSP00000506301.1:p.Ala176Thr
ENST00000681446.1:c.*108G>A	ENSP00000506244.1:n.*108G>A
ENST00000681450.1:c.*197G>A	ENSP00000505660.1:n.*197G>A
ENST00000681548.1:c.*112G>A	ENSP00000505275.1:n.*112G>A
ENST00000681616.1:c.*294G>A	ENSP00000505111.1:n.*294G>A
ENST00000681621.1:c.*110G>A	ENSP00000505770.1:n.*110G>A
ENST00000681680.1:n.2650G>A
ENST00000681720.1:c.*55-5769G>A	ENSP00000505438.1:n.*55-5769G>A
ENST00000681730.1:n.748G>A
ENST00000681790.1:c.268G>A	ENSP00000505130.1:p.Ala90Thr
ENST00000681837.1:n.1142G>A
ENST00000681913.1:n.2650G>A
ENST00000681916.1:c.*294G>A	ENSP00000506477.1:n.*294G>A
ENST00000681930.1:n.2650G>A
ENST00000370834.9:c.625G>A	ENSP00000359871.5:p.Ala209Thr
ENST00000370841.8:c.526G>A	ENSP00000359878.4:p.Ala176Thr
ENST00000420607.6:c.538G>A	ENSP00000409612.2:p.Ala180Thr
ENST00000525808.5:c.*112G>A	ENSP00000434823.1:n.*112G>A
ENST00000526129.5:c.*310G>A	ENSP00000434092.1:n.*310G>A
ENST00000526196.5:c.*294G>A	ENSP00000431953.1:n.*294G>A
ENST00000526930.1:n.299G>A
ENST00000529059.5:n.435G>A
ENST00000530953.6:c.*23G>A	ENSP00000431372.1:n.*23G>A
ENST00000532509.5:c.*290G>A	ENSP00000432522.1:n.*290G>A
ENST00000534334.5:c.*110G>A	ENSP00000435584.1:n.*110G>A
ENST00000541113.5:c.418G>A	ENSP00000442324.1:p.Ala140Thr
NM_000016.5:c.526G>A	NP_000007.1:p.Ala176Thr
NM_001127328.2:c.538G>A	NP_001120800.1:p.Ala180Thr
NM_001286042.1:c.418G>A	NP_001272971.1:p.Ala140Thr
NM_001286043.1:c.625G>A	NP_001272972.1:p.Ala209Thr
NM_001286044.1:c.-42G>A	NP_001272973.1:n.-42G>A
NM_000016.6:c.526G>A MANE Select	NP_000007.1:p.Ala176Thr
NM_001127328.3:c.538G>A	NP_001120800.1:p.Ala180Thr
NM_001286042.2:c.418G>A	NP_001272971.1:p.Ala140Thr
NM_001286043.2:c.625G>A	NP_001272972.1:p.Ala209Thr
NM_001286044.2:c.-42G>A	NP_001272973.1:n.-42G>A