Canonical Allele Identifier: CA340818168

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226961A>G (hg19) ; chr1:g.75761276A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761276A>G , CM000663.2:g.75761276A>G	GRCh38
NC_000001.10:g.76226961A>G , CM000663.1:g.76226961A>G	GRCh37
NC_000001.9:g.75999549A>G	NCBI36
NG_007045.2:g.41919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1100A>G MANE Select	ENSP00000359878.5:p.Gln367Arg
ENST00000473018.3:n.3224A>G
ENST00000532207.6:n.2111A>G
ENST00000541113.6:c.1004A>G	ENSP00000442324.2:p.Gln335Arg
ENST00000679509.1:n.2062A>G
ENST00000679530.1:c.*868A>G	ENSP00000506454.1:n.*868A>G
ENST00000679615.1:n.3115A>G
ENST00000679687.1:c.662A>G	ENSP00000506598.1:p.Gln221Arg
ENST00000679704.1:c.*866A>G	ENSP00000505117.1:n.*866A>G
ENST00000679709.1:c.*1063A>G	ENSP00000506623.1:n.*1063A>G
ENST00000679976.1:c.*684A>G	ENSP00000505565.1:n.*684A>G
ENST00000680166.1:n.4389A>G
ENST00000680315.1:n.983A>G
ENST00000680517.1:c.*488A>G	ENSP00000505803.1:n.*488A>G
ENST00000680582.1:n.2062A>G
ENST00000680613.1:c.*593A>G	ENSP00000506114.1:n.*593A>G
ENST00000680662.1:c.*1014A>G	ENSP00000505080.1:n.*1014A>G
ENST00000680691.1:c.*763A>G	ENSP00000506487.1:n.*763A>G
ENST00000680694.1:c.*688A>G	ENSP00000505658.1:n.*688A>G
ENST00000680743.1:c.*889A>G	ENSP00000505073.1:n.*889A>G
ENST00000680749.1:c.*385A>G	ENSP00000505122.1:n.*385A>G
ENST00000680798.1:c.*575A>G	ENSP00000505670.1:n.*575A>G
ENST00000680805.1:c.959A>G	ENSP00000505447.1:p.Gln320Arg
ENST00000680844.1:c.*884A>G	ENSP00000506541.1:n.*884A>G
ENST00000680948.1:c.*967A>G	ENSP00000505441.1:n.*967A>G
ENST00000680964.1:c.*193A>G	ENSP00000505961.1:n.*193A>G
ENST00000681037.1:c.*2584A>G	ENSP00000506025.1:n.*2584A>G
ENST00000681063.1:c.*369A>G	ENSP00000506616.1:n.*369A>G
ENST00000681209.1:c.*755A>G	ENSP00000505877.1:n.*755A>G
ENST00000681278.1:n.1802A>G
ENST00000681289.1:n.5095A>G
ENST00000681361.1:c.*767A>G	ENSP00000506679.1:n.*767A>G
ENST00000681430.1:c.*193A>G	ENSP00000506301.1:n.*193A>G
ENST00000681446.1:c.*804A>G	ENSP00000506244.1:n.*804A>G
ENST00000681450.1:c.*771A>G	ENSP00000505660.1:n.*771A>G
ENST00000681548.1:c.*686A>G	ENSP00000505275.1:n.*686A>G
ENST00000681616.1:c.*759A>G	ENSP00000505111.1:n.*759A>G
ENST00000681621.1:c.*684A>G	ENSP00000505770.1:n.*684A>G
ENST00000681680.1:n.3195A>G
ENST00000681720.1:c.*555A>G	ENSP00000505438.1:n.*555A>G
ENST00000681730.1:n.1322A>G
ENST00000681790.1:c.842A>G	ENSP00000505130.1:p.Gln281Arg
ENST00000681837.1:n.1716A>G
ENST00000681913.1:n.3346A>G
ENST00000681916.1:c.*868A>G	ENSP00000506477.1:n.*868A>G
ENST00000681930.1:n.3224A>G
ENST00000370834.9:c.1199A>G	ENSP00000359871.5:p.Gln400Arg
ENST00000370841.8:c.1100A>G	ENSP00000359878.4:p.Gln367Arg
ENST00000420607.6:c.1112A>G	ENSP00000409612.2:p.Gln371Arg
ENST00000481374.1:n.373A>G
ENST00000525808.5:c.*686A>G	ENSP00000434823.1:n.*686A>G
ENST00000526129.5:c.*884A>G	ENSP00000434092.1:n.*884A>G
ENST00000526196.5:c.*868A>G	ENSP00000431953.1:n.*868A>G
ENST00000528016.1:c.160-7901A>G	ENSP00000434284.1:n.160-7901A>G
ENST00000529059.5:n.1009A>G
ENST00000541113.5:c.992A>G	ENSP00000442324.1:p.Gln331Arg
NM_000016.5:c.1100A>G	NP_000007.1:p.Gln367Arg
NM_001127328.2:c.1112A>G	NP_001120800.1:p.Gln371Arg
NM_001286042.1:c.992A>G	NP_001272971.1:p.Gln331Arg
NM_001286043.1:c.1199A>G	NP_001272972.1:p.Gln400Arg
NM_001286044.1:c.533A>G	NP_001272973.1:p.Gln178Arg
NM_000016.6:c.1100A>G MANE Select	NP_000007.1:p.Gln367Arg
NM_001127328.3:c.1112A>G	NP_001120800.1:p.Gln371Arg
NM_001286042.2:c.992A>G	NP_001272971.1:p.Gln331Arg
NM_001286043.2:c.1199A>G	NP_001272972.1:p.Gln400Arg
NM_001286044.2:c.533A>G	NP_001272973.1:p.Gln178Arg