Canonical Allele Identifier: CA274261

Gene: ACADM

Linked Data

• ClinVar Variation Id: 189016
• ClinVar RCV Id: RCV000169403 ; RCV000441828
• dbSNP Id: rs148207467
• ExAC: 1:76226906 C / T
• gnomAD v2: 1-76226906-C-T
• gnomAD v3: 1-75761221-C-T
• gnomAD v4: 1-75761221-C-T
• COSMIC: COSM259283
• MyVariant Identifiers: chr1:g.76226906C>T (hg19) ; chr1:g.75761221C>T (hg38)
• PubMed: PMID:8198141 ; PMID:23829193

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761221C>T , CM000663.2:g.75761221C>T	GRCh38
NC_000001.10:g.76226906C>T , CM000663.1:g.76226906C>T	GRCh37
NC_000001.9:g.75999494C>T	NCBI36
NG_007045.2:g.41864C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1045C>T MANE Select	ENSP00000359878.5:p.Arg349Ter
ENST00000473018.3:n.3169C>T
ENST00000532207.6:n.2056C>T
ENST00000541113.6:c.949C>T	ENSP00000442324.2:p.Arg317Ter
ENST00000679509.1:n.2007C>T
ENST00000679530.1:c.*813C>T	ENSP00000506454.1:n.*813C>T
ENST00000679615.1:n.3060C>T
ENST00000679687.1:c.607C>T	ENSP00000506598.1:p.Arg203Ter
ENST00000679704.1:c.*811C>T	ENSP00000505117.1:n.*811C>T
ENST00000679709.1:c.*1008C>T	ENSP00000506623.1:n.*1008C>T
ENST00000679976.1:c.*629C>T	ENSP00000505565.1:n.*629C>T
ENST00000680166.1:n.4334C>T
ENST00000680315.1:n.928C>T
ENST00000680517.1:c.*433C>T	ENSP00000505803.1:n.*433C>T
ENST00000680582.1:n.2007C>T
ENST00000680613.1:c.*538C>T	ENSP00000506114.1:n.*538C>T
ENST00000680662.1:c.*959C>T	ENSP00000505080.1:n.*959C>T
ENST00000680691.1:c.*708C>T	ENSP00000506487.1:n.*708C>T
ENST00000680694.1:c.*633C>T	ENSP00000505658.1:n.*633C>T
ENST00000680743.1:c.*834C>T	ENSP00000505073.1:n.*834C>T
ENST00000680749.1:c.*330C>T	ENSP00000505122.1:n.*330C>T
ENST00000680798.1:c.*520C>T	ENSP00000505670.1:n.*520C>T
ENST00000680805.1:c.904C>T	ENSP00000505447.1:p.Arg302Ter
ENST00000680844.1:c.*829C>T	ENSP00000506541.1:n.*829C>T
ENST00000680948.1:c.*912C>T	ENSP00000505441.1:n.*912C>T
ENST00000680964.1:c.*138C>T	ENSP00000505961.1:n.*138C>T
ENST00000681037.1:c.*2529C>T	ENSP00000506025.1:n.*2529C>T
ENST00000681063.1:c.*314C>T	ENSP00000506616.1:n.*314C>T
ENST00000681209.1:c.*700C>T	ENSP00000505877.1:n.*700C>T
ENST00000681278.1:n.1747C>T
ENST00000681289.1:n.5040C>T
ENST00000681361.1:c.*712C>T	ENSP00000506679.1:n.*712C>T
ENST00000681430.1:c.*138C>T	ENSP00000506301.1:n.*138C>T
ENST00000681446.1:c.*749C>T	ENSP00000506244.1:n.*749C>T
ENST00000681450.1:c.*716C>T	ENSP00000505660.1:n.*716C>T
ENST00000681548.1:c.*631C>T	ENSP00000505275.1:n.*631C>T
ENST00000681616.1:c.*704C>T	ENSP00000505111.1:n.*704C>T
ENST00000681621.1:c.*629C>T	ENSP00000505770.1:n.*629C>T
ENST00000681680.1:n.3140C>T
ENST00000681720.1:c.*500C>T	ENSP00000505438.1:n.*500C>T
ENST00000681730.1:n.1267C>T
ENST00000681790.1:c.787C>T	ENSP00000505130.1:p.Arg263Ter
ENST00000681837.1:n.1661C>T
ENST00000681913.1:n.3291C>T
ENST00000681916.1:c.*813C>T	ENSP00000506477.1:n.*813C>T
ENST00000681930.1:n.3169C>T
ENST00000370834.9:c.1144C>T	ENSP00000359871.5:p.Arg382Ter
ENST00000370841.8:c.1045C>T	ENSP00000359878.4:p.Arg349Ter
ENST00000420607.6:c.1057C>T	ENSP00000409612.2:p.Arg353Ter
ENST00000481374.1:n.318C>T
ENST00000525808.5:c.*631C>T	ENSP00000434823.1:n.*631C>T
ENST00000526129.5:c.*829C>T	ENSP00000434092.1:n.*829C>T
ENST00000526196.5:c.*813C>T	ENSP00000431953.1:n.*813C>T
ENST00000528016.1:c.160-7956C>T	ENSP00000434284.1:n.160-7956C>T
ENST00000529059.5:n.954C>T
ENST00000534334.5:c.*786C>T	ENSP00000435584.1:n.*786C>T
ENST00000541113.5:c.937C>T	ENSP00000442324.1:p.Arg313Ter
NM_000016.5:c.1045C>T	NP_000007.1:p.Arg349Ter
NM_001127328.2:c.1057C>T	NP_001120800.1:p.Arg353Ter
NM_001286042.1:c.937C>T	NP_001272971.1:p.Arg313Ter
NM_001286043.1:c.1144C>T	NP_001272972.1:p.Arg382Ter
NM_001286044.1:c.478C>T	NP_001272973.1:p.Arg160Ter
NM_000016.6:c.1045C>T MANE Select	NP_000007.1:p.Arg349Ter
NM_001127328.3:c.1057C>T	NP_001120800.1:p.Arg353Ter
NM_001286042.2:c.937C>T	NP_001272971.1:p.Arg313Ter
NM_001286043.2:c.1144C>T	NP_001272972.1:p.Arg382Ter
NM_001286044.2:c.478C>T	NP_001272973.1:p.Arg160Ter