Canonical Allele Identifier: CA340818274

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227012A>C (hg19) ; chr1:g.75761327A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761327A>C , CM000663.2:g.75761327A>C	GRCh38
NC_000001.10:g.76227012A>C , CM000663.1:g.76227012A>C	GRCh37
NC_000001.9:g.75999600A>C	NCBI36
NG_007045.2:g.41970A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1151A>C MANE Select	ENSP00000359878.5:p.Glu384Ala
ENST00000473018.3:n.3275A>C
ENST00000532207.6:n.2162A>C
ENST00000541113.6:c.1055A>C	ENSP00000442324.2:p.Glu352Ala
ENST00000679509.1:n.2113A>C
ENST00000679530.1:c.*919A>C	ENSP00000506454.1:n.*919A>C
ENST00000679615.1:n.3166A>C
ENST00000679687.1:c.713A>C	ENSP00000506598.1:p.Glu238Ala
ENST00000679704.1:c.*917A>C	ENSP00000505117.1:n.*917A>C
ENST00000679709.1:c.*1114A>C	ENSP00000506623.1:n.*1114A>C
ENST00000679976.1:c.*735A>C	ENSP00000505565.1:n.*735A>C
ENST00000680166.1:n.4440A>C
ENST00000680315.1:n.1034A>C
ENST00000680517.1:c.*539A>C	ENSP00000505803.1:n.*539A>C
ENST00000680582.1:n.2113A>C
ENST00000680613.1:c.*644A>C	ENSP00000506114.1:n.*644A>C
ENST00000680662.1:c.*1065A>C	ENSP00000505080.1:n.*1065A>C
ENST00000680691.1:c.*814A>C	ENSP00000506487.1:n.*814A>C
ENST00000680694.1:c.*739A>C	ENSP00000505658.1:n.*739A>C
ENST00000680743.1:c.*940A>C	ENSP00000505073.1:n.*940A>C
ENST00000680749.1:c.*436A>C	ENSP00000505122.1:n.*436A>C
ENST00000680798.1:c.*626A>C	ENSP00000505670.1:n.*626A>C
ENST00000680805.1:c.1010A>C	ENSP00000505447.1:p.Glu337Ala
ENST00000680844.1:c.*935A>C	ENSP00000506541.1:n.*935A>C
ENST00000680948.1:c.*1018A>C	ENSP00000505441.1:n.*1018A>C
ENST00000680964.1:c.*244A>C	ENSP00000505961.1:n.*244A>C
ENST00000681037.1:c.*2635A>C	ENSP00000506025.1:n.*2635A>C
ENST00000681063.1:c.*420A>C	ENSP00000506616.1:n.*420A>C
ENST00000681209.1:c.*806A>C	ENSP00000505877.1:n.*806A>C
ENST00000681278.1:n.1853A>C
ENST00000681289.1:n.5146A>C
ENST00000681361.1:c.*818A>C	ENSP00000506679.1:n.*818A>C
ENST00000681430.1:c.*244A>C	ENSP00000506301.1:n.*244A>C
ENST00000681446.1:c.*855A>C	ENSP00000506244.1:n.*855A>C
ENST00000681450.1:c.*822A>C	ENSP00000505660.1:n.*822A>C
ENST00000681548.1:c.*737A>C	ENSP00000505275.1:n.*737A>C
ENST00000681616.1:c.*810A>C	ENSP00000505111.1:n.*810A>C
ENST00000681621.1:c.*735A>C	ENSP00000505770.1:n.*735A>C
ENST00000681680.1:n.3246A>C
ENST00000681720.1:c.*606A>C	ENSP00000505438.1:n.*606A>C
ENST00000681730.1:n.1373A>C
ENST00000681790.1:c.893A>C	ENSP00000505130.1:p.Glu298Ala
ENST00000681837.1:n.1767A>C
ENST00000681913.1:n.3397A>C
ENST00000681916.1:c.*919A>C	ENSP00000506477.1:n.*919A>C
ENST00000681930.1:n.3275A>C
ENST00000370834.9:c.1250A>C	ENSP00000359871.5:p.Glu417Ala
ENST00000370841.8:c.1151A>C	ENSP00000359878.4:p.Glu384Ala
ENST00000420607.6:c.1163A>C	ENSP00000409612.2:p.Glu388Ala
ENST00000481374.1:n.424A>C
ENST00000525808.5:c.*737A>C	ENSP00000434823.1:n.*737A>C
ENST00000526129.5:c.*935A>C	ENSP00000434092.1:n.*935A>C
ENST00000526196.5:c.*919A>C	ENSP00000431953.1:n.*919A>C
ENST00000528016.1:c.160-7850A>C	ENSP00000434284.1:n.160-7850A>C
ENST00000529059.5:n.1060A>C
ENST00000541113.5:c.1043A>C	ENSP00000442324.1:p.Glu348Ala
NM_000016.5:c.1151A>C	NP_000007.1:p.Glu384Ala
NM_001127328.2:c.1163A>C	NP_001120800.1:p.Glu388Ala
NM_001286042.1:c.1043A>C	NP_001272971.1:p.Glu348Ala
NM_001286043.1:c.1250A>C	NP_001272972.1:p.Glu417Ala
NM_001286044.1:c.584A>C	NP_001272973.1:p.Glu195Ala
NM_000016.6:c.1151A>C MANE Select	NP_000007.1:p.Glu384Ala
NM_001127328.3:c.1163A>C	NP_001120800.1:p.Glu388Ala
NM_001286042.2:c.1043A>C	NP_001272971.1:p.Glu348Ala
NM_001286043.2:c.1250A>C	NP_001272972.1:p.Glu417Ala
NM_001286044.2:c.584A>C	NP_001272973.1:p.Glu195Ala