Canonical Allele Identifier: CA913272

Gene: ACADM

Linked Data

• ClinVar Variation Id: 843524
• ClinVar RCV Id: RCV001046173
• dbSNP Id: rs150310121
• ExAC: 1:76226946 G / A
• gnomAD v2: 1-76226946-G-A
• gnomAD v3: 1-75761261-G-A
• gnomAD v4: 1-75761261-G-A
• MyVariant Identifiers: chr1:g.76226946G>A (hg19) ; chr1:g.75761261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761261G>A , CM000663.2:g.75761261G>A	GRCh38
NC_000001.10:g.76226946G>A , CM000663.1:g.76226946G>A	GRCh37
NC_000001.9:g.75999534G>A	NCBI36
NG_007045.2:g.41904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1085G>A MANE Select	ENSP00000359878.5:p.Gly362Glu
ENST00000473018.3:n.3209G>A
ENST00000532207.6:n.2096G>A
ENST00000541113.6:c.989G>A	ENSP00000442324.2:p.Gly330Glu
ENST00000679509.1:n.2047G>A
ENST00000679530.1:c.*853G>A	ENSP00000506454.1:n.*853G>A
ENST00000679615.1:n.3100G>A
ENST00000679687.1:c.647G>A	ENSP00000506598.1:p.Gly216Glu
ENST00000679704.1:c.*851G>A	ENSP00000505117.1:n.*851G>A
ENST00000679709.1:c.*1048G>A	ENSP00000506623.1:n.*1048G>A
ENST00000679976.1:c.*669G>A	ENSP00000505565.1:n.*669G>A
ENST00000680166.1:n.4374G>A
ENST00000680315.1:n.968G>A
ENST00000680517.1:c.*473G>A	ENSP00000505803.1:n.*473G>A
ENST00000680582.1:n.2047G>A
ENST00000680613.1:c.*578G>A	ENSP00000506114.1:n.*578G>A
ENST00000680662.1:c.*999G>A	ENSP00000505080.1:n.*999G>A
ENST00000680691.1:c.*748G>A	ENSP00000506487.1:n.*748G>A
ENST00000680694.1:c.*673G>A	ENSP00000505658.1:n.*673G>A
ENST00000680743.1:c.*874G>A	ENSP00000505073.1:n.*874G>A
ENST00000680749.1:c.*370G>A	ENSP00000505122.1:n.*370G>A
ENST00000680798.1:c.*560G>A	ENSP00000505670.1:n.*560G>A
ENST00000680805.1:c.944G>A	ENSP00000505447.1:p.Gly315Glu
ENST00000680844.1:c.*869G>A	ENSP00000506541.1:n.*869G>A
ENST00000680948.1:c.*952G>A	ENSP00000505441.1:n.*952G>A
ENST00000680964.1:c.*178G>A	ENSP00000505961.1:n.*178G>A
ENST00000681037.1:c.*2569G>A	ENSP00000506025.1:n.*2569G>A
ENST00000681063.1:c.*354G>A	ENSP00000506616.1:n.*354G>A
ENST00000681209.1:c.*740G>A	ENSP00000505877.1:n.*740G>A
ENST00000681278.1:n.1787G>A
ENST00000681289.1:n.5080G>A
ENST00000681361.1:c.*752G>A	ENSP00000506679.1:n.*752G>A
ENST00000681430.1:c.*178G>A	ENSP00000506301.1:n.*178G>A
ENST00000681446.1:c.*789G>A	ENSP00000506244.1:n.*789G>A
ENST00000681450.1:c.*756G>A	ENSP00000505660.1:n.*756G>A
ENST00000681548.1:c.*671G>A	ENSP00000505275.1:n.*671G>A
ENST00000681616.1:c.*744G>A	ENSP00000505111.1:n.*744G>A
ENST00000681621.1:c.*669G>A	ENSP00000505770.1:n.*669G>A
ENST00000681680.1:n.3180G>A
ENST00000681720.1:c.*540G>A	ENSP00000505438.1:n.*540G>A
ENST00000681730.1:n.1307G>A
ENST00000681790.1:c.827G>A	ENSP00000505130.1:p.Gly276Glu
ENST00000681837.1:n.1701G>A
ENST00000681913.1:n.3331G>A
ENST00000681916.1:c.*853G>A	ENSP00000506477.1:n.*853G>A
ENST00000681930.1:n.3209G>A
ENST00000370834.9:c.1184G>A	ENSP00000359871.5:p.Gly395Glu
ENST00000370841.8:c.1085G>A	ENSP00000359878.4:p.Gly362Glu
ENST00000420607.6:c.1097G>A	ENSP00000409612.2:p.Gly366Glu
ENST00000481374.1:n.358G>A
ENST00000525808.5:c.*671G>A	ENSP00000434823.1:n.*671G>A
ENST00000526129.5:c.*869G>A	ENSP00000434092.1:n.*869G>A
ENST00000526196.5:c.*853G>A	ENSP00000431953.1:n.*853G>A
ENST00000528016.1:c.160-7916G>A	ENSP00000434284.1:n.160-7916G>A
ENST00000529059.5:n.994G>A
ENST00000541113.5:c.977G>A	ENSP00000442324.1:p.Gly326Glu
NM_000016.5:c.1085G>A	NP_000007.1:p.Gly362Glu
NM_001127328.2:c.1097G>A	NP_001120800.1:p.Gly366Glu
NM_001286042.1:c.977G>A	NP_001272971.1:p.Gly326Glu
NM_001286043.1:c.1184G>A	NP_001272972.1:p.Gly395Glu
NM_001286044.1:c.518G>A	NP_001272973.1:p.Gly173Glu
NM_000016.6:c.1085G>A MANE Select	NP_000007.1:p.Gly362Glu
NM_001127328.3:c.1097G>A	NP_001120800.1:p.Gly366Glu
NM_001286042.2:c.977G>A	NP_001272971.1:p.Gly326Glu
NM_001286043.2:c.1184G>A	NP_001272972.1:p.Gly395Glu
NM_001286044.2:c.518G>A	NP_001272973.1:p.Gly173Glu