Canonical Allele Identifier: CA340818088

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226922C>A (hg19) ; chr1:g.75761237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761237C>A , CM000663.2:g.75761237C>A	GRCh38
NC_000001.10:g.76226922C>A , CM000663.1:g.76226922C>A	GRCh37
NC_000001.9:g.75999510C>A	NCBI36
NG_007045.2:g.41880C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1061C>A MANE Select	ENSP00000359878.5:p.Ala354Asp
ENST00000473018.3:n.3185C>A
ENST00000532207.6:n.2072C>A
ENST00000541113.6:c.965C>A	ENSP00000442324.2:p.Ala322Asp
ENST00000679509.1:n.2023C>A
ENST00000679530.1:c.*829C>A	ENSP00000506454.1:n.*829C>A
ENST00000679615.1:n.3076C>A
ENST00000679687.1:c.623C>A	ENSP00000506598.1:p.Ala208Asp
ENST00000679704.1:c.*827C>A	ENSP00000505117.1:n.*827C>A
ENST00000679709.1:c.*1024C>A	ENSP00000506623.1:n.*1024C>A
ENST00000679976.1:c.*645C>A	ENSP00000505565.1:n.*645C>A
ENST00000680166.1:n.4350C>A
ENST00000680315.1:n.944C>A
ENST00000680517.1:c.*449C>A	ENSP00000505803.1:n.*449C>A
ENST00000680582.1:n.2023C>A
ENST00000680613.1:c.*554C>A	ENSP00000506114.1:n.*554C>A
ENST00000680662.1:c.*975C>A	ENSP00000505080.1:n.*975C>A
ENST00000680691.1:c.*724C>A	ENSP00000506487.1:n.*724C>A
ENST00000680694.1:c.*649C>A	ENSP00000505658.1:n.*649C>A
ENST00000680743.1:c.*850C>A	ENSP00000505073.1:n.*850C>A
ENST00000680749.1:c.*346C>A	ENSP00000505122.1:n.*346C>A
ENST00000680798.1:c.*536C>A	ENSP00000505670.1:n.*536C>A
ENST00000680805.1:c.920C>A	ENSP00000505447.1:p.Ala307Asp
ENST00000680844.1:c.*845C>A	ENSP00000506541.1:n.*845C>A
ENST00000680948.1:c.*928C>A	ENSP00000505441.1:n.*928C>A
ENST00000680964.1:c.*154C>A	ENSP00000505961.1:n.*154C>A
ENST00000681037.1:c.*2545C>A	ENSP00000506025.1:n.*2545C>A
ENST00000681063.1:c.*330C>A	ENSP00000506616.1:n.*330C>A
ENST00000681209.1:c.*716C>A	ENSP00000505877.1:n.*716C>A
ENST00000681278.1:n.1763C>A
ENST00000681289.1:n.5056C>A
ENST00000681361.1:c.*728C>A	ENSP00000506679.1:n.*728C>A
ENST00000681430.1:c.*154C>A	ENSP00000506301.1:n.*154C>A
ENST00000681446.1:c.*765C>A	ENSP00000506244.1:n.*765C>A
ENST00000681450.1:c.*732C>A	ENSP00000505660.1:n.*732C>A
ENST00000681548.1:c.*647C>A	ENSP00000505275.1:n.*647C>A
ENST00000681616.1:c.*720C>A	ENSP00000505111.1:n.*720C>A
ENST00000681621.1:c.*645C>A	ENSP00000505770.1:n.*645C>A
ENST00000681680.1:n.3156C>A
ENST00000681720.1:c.*516C>A	ENSP00000505438.1:n.*516C>A
ENST00000681730.1:n.1283C>A
ENST00000681790.1:c.803C>A	ENSP00000505130.1:p.Ala268Asp
ENST00000681837.1:n.1677C>A
ENST00000681913.1:n.3307C>A
ENST00000681916.1:c.*829C>A	ENSP00000506477.1:n.*829C>A
ENST00000681930.1:n.3185C>A
ENST00000370834.9:c.1160C>A	ENSP00000359871.5:p.Ala387Asp
ENST00000370841.8:c.1061C>A	ENSP00000359878.4:p.Ala354Asp
ENST00000420607.6:c.1073C>A	ENSP00000409612.2:p.Ala358Asp
ENST00000481374.1:n.334C>A
ENST00000525808.5:c.*647C>A	ENSP00000434823.1:n.*647C>A
ENST00000526129.5:c.*845C>A	ENSP00000434092.1:n.*845C>A
ENST00000526196.5:c.*829C>A	ENSP00000431953.1:n.*829C>A
ENST00000528016.1:c.160-7940C>A	ENSP00000434284.1:n.160-7940C>A
ENST00000529059.5:n.970C>A
ENST00000534334.5:c.*802C>A	ENSP00000435584.1:n.*802C>A
ENST00000541113.5:c.953C>A	ENSP00000442324.1:p.Ala318Asp
NM_000016.5:c.1061C>A	NP_000007.1:p.Ala354Asp
NM_001127328.2:c.1073C>A	NP_001120800.1:p.Ala358Asp
NM_001286042.1:c.953C>A	NP_001272971.1:p.Ala318Asp
NM_001286043.1:c.1160C>A	NP_001272972.1:p.Ala387Asp
NM_001286044.1:c.494C>A	NP_001272973.1:p.Ala165Asp
NM_000016.6:c.1061C>A MANE Select	NP_000007.1:p.Ala354Asp
NM_001127328.3:c.1073C>A	NP_001120800.1:p.Ala358Asp
NM_001286042.2:c.953C>A	NP_001272971.1:p.Ala318Asp
NM_001286043.2:c.1160C>A	NP_001272972.1:p.Ala387Asp
NM_001286044.2:c.494C>A	NP_001272973.1:p.Ala165Asp