Canonical Allele Identifier: CA340817054

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216179A>T (hg19) ; chr1:g.75750494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750494A>T , CM000663.2:g.75750494A>T	GRCh38
NC_000001.10:g.76216179A>T , CM000663.1:g.76216179A>T	GRCh37
NC_000001.9:g.75988767A>T	NCBI36
NG_007045.2:g.31137A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.893A>T MANE Select	ENSP00000359878.5:p.Glu298Val
ENST00000473018.3:n.3017A>T
ENST00000532207.6:n.1782A>T
ENST00000541113.6:c.849+935A>T	ENSP00000442324.2:n.849+935A>T
ENST00000679509.1:n.1855A>T
ENST00000679530.1:c.*661A>T	ENSP00000506454.1:n.*661A>T
ENST00000679615.1:n.2908A>T
ENST00000679687.1:c.455A>T	ENSP00000506598.1:p.Glu152Val
ENST00000679704.1:c.*659A>T	ENSP00000505117.1:n.*659A>T
ENST00000679709.1:c.*856A>T	ENSP00000506623.1:n.*856A>T
ENST00000679976.1:c.*477A>T	ENSP00000505565.1:n.*477A>T
ENST00000680166.1:n.4182A>T
ENST00000680315.1:n.776A>T
ENST00000680517.1:c.*281A>T	ENSP00000505803.1:n.*281A>T
ENST00000680582.1:n.1855A>T
ENST00000680613.1:c.*264A>T	ENSP00000506114.1:n.*264A>T
ENST00000680662.1:c.*807A>T	ENSP00000505080.1:n.*807A>T
ENST00000680691.1:c.*556A>T	ENSP00000506487.1:n.*556A>T
ENST00000680694.1:c.*481A>T	ENSP00000505658.1:n.*481A>T
ENST00000680743.1:c.*560A>T	ENSP00000505073.1:n.*560A>T
ENST00000680749.1:c.*178A>T	ENSP00000505122.1:n.*178A>T
ENST00000680798.1:c.*368A>T	ENSP00000505670.1:n.*368A>T
ENST00000680805.1:c.752A>T	ENSP00000505447.1:p.Glu251Val
ENST00000680844.1:c.*677A>T	ENSP00000506541.1:n.*677A>T
ENST00000680948.1:c.*760A>T	ENSP00000505441.1:n.*760A>T
ENST00000680964.1:c.893A>T	ENSP00000505961.1:p.Glu298Val
ENST00000681037.1:c.*2377A>T	ENSP00000506025.1:n.*2377A>T
ENST00000681063.1:c.*40A>T	ENSP00000506616.1:n.*40A>T
ENST00000681209.1:c.*548A>T	ENSP00000505877.1:n.*548A>T
ENST00000681278.1:n.1250A>T
ENST00000681289.1:n.4888A>T
ENST00000681361.1:c.*560A>T	ENSP00000506679.1:n.*560A>T
ENST00000681430.1:c.893A>T	ENSP00000506301.1:p.Glu298Val
ENST00000681446.1:c.*475A>T	ENSP00000506244.1:n.*475A>T
ENST00000681450.1:c.*564A>T	ENSP00000505660.1:n.*564A>T
ENST00000681548.1:c.*479A>T	ENSP00000505275.1:n.*479A>T
ENST00000681616.1:c.*552A>T	ENSP00000505111.1:n.*552A>T
ENST00000681621.1:c.*477A>T	ENSP00000505770.1:n.*477A>T
ENST00000681680.1:n.2988A>T
ENST00000681720.1:c.*348A>T	ENSP00000505438.1:n.*348A>T
ENST00000681730.1:n.1115A>T
ENST00000681790.1:c.635A>T	ENSP00000505130.1:p.Glu212Val
ENST00000681837.1:n.1509A>T
ENST00000681913.1:n.3017A>T
ENST00000681916.1:c.*661A>T	ENSP00000506477.1:n.*661A>T
ENST00000681930.1:n.3017A>T
ENST00000370834.9:c.992A>T	ENSP00000359871.5:p.Glu331Val
ENST00000370841.8:c.893A>T	ENSP00000359878.4:p.Glu298Val
ENST00000420607.6:c.905A>T	ENSP00000409612.2:p.Glu302Val
ENST00000481374.1:n.44A>T
ENST00000525808.5:c.*479A>T	ENSP00000434823.1:n.*479A>T
ENST00000526129.5:c.*677A>T	ENSP00000434092.1:n.*677A>T
ENST00000526196.5:c.*661A>T	ENSP00000431953.1:n.*661A>T
ENST00000528016.1:c.107A>T	ENSP00000434284.1:p.Glu36Val
ENST00000529059.5:n.802A>T
ENST00000532207.5:n.623A>T
ENST00000534334.5:c.*477A>T	ENSP00000435584.1:n.*477A>T
ENST00000541113.5:c.785A>T	ENSP00000442324.1:p.Glu262Val
NM_000016.5:c.893A>T	NP_000007.1:p.Glu298Val
NM_001127328.2:c.905A>T	NP_001120800.1:p.Glu302Val
NM_001286042.1:c.785A>T	NP_001272971.1:p.Glu262Val
NM_001286043.1:c.992A>T	NP_001272972.1:p.Glu331Val
NM_001286044.1:c.326A>T	NP_001272973.1:p.Glu109Val
NM_000016.6:c.893A>T MANE Select	NP_000007.1:p.Glu298Val
NM_001127328.3:c.905A>T	NP_001120800.1:p.Glu302Val
NM_001286042.2:c.785A>T	NP_001272971.1:p.Glu262Val
NM_001286043.2:c.992A>T	NP_001272972.1:p.Glu331Val
NM_001286044.2:c.326A>T	NP_001272973.1:p.Glu109Val