Canonical Allele Identifier: CA340817941

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226854A>T (hg19) ; chr1:g.75761169A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761169A>T , CM000663.2:g.75761169A>T	GRCh38
NC_000001.10:g.76226854A>T , CM000663.1:g.76226854A>T	GRCh37
NC_000001.9:g.75999442A>T	NCBI36
NG_007045.2:g.41812A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.993A>T MANE Select	ENSP00000359878.5:p.Glu331Asp
ENST00000473018.3:n.3117A>T
ENST00000532207.6:n.2004A>T
ENST00000541113.6:c.897A>T	ENSP00000442324.2:p.Glu299Asp
ENST00000679509.1:n.1955A>T
ENST00000679530.1:c.*761A>T	ENSP00000506454.1:n.*761A>T
ENST00000679615.1:n.3008A>T
ENST00000679687.1:c.555A>T	ENSP00000506598.1:p.Glu185Asp
ENST00000679704.1:c.*759A>T	ENSP00000505117.1:n.*759A>T
ENST00000679709.1:c.*956A>T	ENSP00000506623.1:n.*956A>T
ENST00000679976.1:c.*577A>T	ENSP00000505565.1:n.*577A>T
ENST00000680166.1:n.4282A>T
ENST00000680315.1:n.876A>T
ENST00000680517.1:c.*381A>T	ENSP00000505803.1:n.*381A>T
ENST00000680582.1:n.1955A>T
ENST00000680613.1:c.*486A>T	ENSP00000506114.1:n.*486A>T
ENST00000680662.1:c.*907A>T	ENSP00000505080.1:n.*907A>T
ENST00000680691.1:c.*656A>T	ENSP00000506487.1:n.*656A>T
ENST00000680694.1:c.*581A>T	ENSP00000505658.1:n.*581A>T
ENST00000680743.1:c.*782A>T	ENSP00000505073.1:n.*782A>T
ENST00000680749.1:c.*278A>T	ENSP00000505122.1:n.*278A>T
ENST00000680798.1:c.*468A>T	ENSP00000505670.1:n.*468A>T
ENST00000680805.1:c.852A>T	ENSP00000505447.1:p.Glu284Asp
ENST00000680844.1:c.*777A>T	ENSP00000506541.1:n.*777A>T
ENST00000680948.1:c.*860A>T	ENSP00000505441.1:n.*860A>T
ENST00000680964.1:c.*86A>T	ENSP00000505961.1:n.*86A>T
ENST00000681037.1:c.*2477A>T	ENSP00000506025.1:n.*2477A>T
ENST00000681063.1:c.*262A>T	ENSP00000506616.1:n.*262A>T
ENST00000681209.1:c.*648A>T	ENSP00000505877.1:n.*648A>T
ENST00000681278.1:n.1695A>T
ENST00000681289.1:n.4988A>T
ENST00000681361.1:c.*660A>T	ENSP00000506679.1:n.*660A>T
ENST00000681430.1:c.*86A>T	ENSP00000506301.1:n.*86A>T
ENST00000681446.1:c.*697A>T	ENSP00000506244.1:n.*697A>T
ENST00000681450.1:c.*664A>T	ENSP00000505660.1:n.*664A>T
ENST00000681548.1:c.*579A>T	ENSP00000505275.1:n.*579A>T
ENST00000681616.1:c.*652A>T	ENSP00000505111.1:n.*652A>T
ENST00000681621.1:c.*577A>T	ENSP00000505770.1:n.*577A>T
ENST00000681680.1:n.3088A>T
ENST00000681720.1:c.*448A>T	ENSP00000505438.1:n.*448A>T
ENST00000681730.1:n.1215A>T
ENST00000681790.1:c.735A>T	ENSP00000505130.1:p.Glu245Asp
ENST00000681837.1:n.1609A>T
ENST00000681913.1:n.3239A>T
ENST00000681916.1:c.*761A>T	ENSP00000506477.1:n.*761A>T
ENST00000681930.1:n.3117A>T
ENST00000370834.9:c.1092A>T	ENSP00000359871.5:p.Glu364Asp
ENST00000370841.8:c.993A>T	ENSP00000359878.4:p.Glu331Asp
ENST00000420607.6:c.1005A>T	ENSP00000409612.2:p.Glu335Asp
ENST00000481374.1:n.266A>T
ENST00000525808.5:c.*579A>T	ENSP00000434823.1:n.*579A>T
ENST00000526129.5:c.*777A>T	ENSP00000434092.1:n.*777A>T
ENST00000526196.5:c.*761A>T	ENSP00000431953.1:n.*761A>T
ENST00000528016.1:c.160-8008A>T	ENSP00000434284.1:n.160-8008A>T
ENST00000529059.5:n.902A>T
ENST00000532207.5:n.723A>T
ENST00000534334.5:c.*734A>T	ENSP00000435584.1:n.*734A>T
ENST00000541113.5:c.885A>T	ENSP00000442324.1:p.Glu295Asp
NM_000016.5:c.993A>T	NP_000007.1:p.Glu331Asp
NM_001127328.2:c.1005A>T	NP_001120800.1:p.Glu335Asp
NM_001286042.1:c.885A>T	NP_001272971.1:p.Glu295Asp
NM_001286043.1:c.1092A>T	NP_001272972.1:p.Glu364Asp
NM_001286044.1:c.426A>T	NP_001272973.1:p.Glu142Asp
NM_000016.6:c.993A>T MANE Select	NP_000007.1:p.Glu331Asp
NM_001127328.3:c.1005A>T	NP_001120800.1:p.Glu335Asp
NM_001286042.2:c.885A>T	NP_001272971.1:p.Glu295Asp
NM_001286043.2:c.1092A>T	NP_001272972.1:p.Glu364Asp
NM_001286044.2:c.426A>T	NP_001272973.1:p.Glu142Asp