Canonical Allele Identifier: CA340816701

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215192A>C (hg19) ; chr1:g.75749507A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749507A>C , CM000663.2:g.75749507A>C	GRCh38
NC_000001.10:g.76215192A>C , CM000663.1:g.76215192A>C	GRCh37
NC_000001.9:g.75987780A>C	NCBI36
NG_007045.2:g.30150A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.797A>C MANE Select	ENSP00000359878.5:p.Asp266Ala
ENST00000473018.3:n.2921A>C
ENST00000532207.6:n.1686A>C
ENST00000541113.6:c.797A>C	ENSP00000442324.2:p.Asp266Ala
ENST00000679509.1:n.1759A>C
ENST00000679530.1:c.*565A>C	ENSP00000506454.1:n.*565A>C
ENST00000679615.1:n.2812A>C
ENST00000679687.1:c.359A>C	ENSP00000506598.1:p.Asp120Ala
ENST00000679704.1:c.*563A>C	ENSP00000505117.1:n.*563A>C
ENST00000679709.1:c.*760A>C	ENSP00000506623.1:n.*760A>C
ENST00000679976.1:c.*381A>C	ENSP00000505565.1:n.*381A>C
ENST00000680166.1:n.4086A>C
ENST00000680517.1:c.*185A>C	ENSP00000505803.1:n.*185A>C
ENST00000680582.1:n.1759A>C
ENST00000680613.1:c.*168A>C	ENSP00000506114.1:n.*168A>C
ENST00000680662.1:c.*711A>C	ENSP00000505080.1:n.*711A>C
ENST00000680691.1:c.*460A>C	ENSP00000506487.1:n.*460A>C
ENST00000680694.1:c.*385A>C	ENSP00000505658.1:n.*385A>C
ENST00000680743.1:c.*464A>C	ENSP00000505073.1:n.*464A>C
ENST00000680749.1:c.*82A>C	ENSP00000505122.1:n.*82A>C
ENST00000680798.1:c.*272A>C	ENSP00000505670.1:n.*272A>C
ENST00000680805.1:c.709-944A>C	ENSP00000505447.1:n.709-944A>C
ENST00000680844.1:c.*581A>C	ENSP00000506541.1:n.*581A>C
ENST00000680948.1:c.*664A>C	ENSP00000505441.1:n.*664A>C
ENST00000680964.1:c.797A>C	ENSP00000505961.1:p.Asp266Ala
ENST00000681037.1:c.*2281A>C	ENSP00000506025.1:n.*2281A>C
ENST00000681063.1:c.600-944A>C	ENSP00000506616.1:n.600-944A>C
ENST00000681209.1:c.*452A>C	ENSP00000505877.1:n.*452A>C
ENST00000681278.1:n.1154A>C
ENST00000681289.1:n.4792A>C
ENST00000681361.1:c.*464A>C	ENSP00000506679.1:n.*464A>C
ENST00000681430.1:c.797A>C	ENSP00000506301.1:p.Asp266Ala
ENST00000681446.1:c.*379A>C	ENSP00000506244.1:n.*379A>C
ENST00000681450.1:c.*468A>C	ENSP00000505660.1:n.*468A>C
ENST00000681548.1:c.*383A>C	ENSP00000505275.1:n.*383A>C
ENST00000681616.1:c.*456A>C	ENSP00000505111.1:n.*456A>C
ENST00000681621.1:c.*381A>C	ENSP00000505770.1:n.*381A>C
ENST00000681680.1:n.2892A>C
ENST00000681720.1:c.*252A>C	ENSP00000505438.1:n.*252A>C
ENST00000681730.1:n.1019A>C
ENST00000681790.1:c.539A>C	ENSP00000505130.1:p.Asp180Ala
ENST00000681837.1:n.1413A>C
ENST00000681913.1:n.2921A>C
ENST00000681916.1:c.*565A>C	ENSP00000506477.1:n.*565A>C
ENST00000681930.1:n.2921A>C
ENST00000370834.9:c.896A>C	ENSP00000359871.5:p.Asp299Ala
ENST00000370841.8:c.797A>C	ENSP00000359878.4:p.Asp266Ala
ENST00000420607.6:c.809A>C	ENSP00000409612.2:p.Asp270Ala
ENST00000525808.5:c.*383A>C	ENSP00000434823.1:n.*383A>C
ENST00000526129.5:c.*581A>C	ENSP00000434092.1:n.*581A>C
ENST00000526196.5:c.*565A>C	ENSP00000431953.1:n.*565A>C
ENST00000526930.1:n.570A>C
ENST00000528016.1:c.11A>C	ENSP00000434284.1:p.Asp4Ala
ENST00000529059.5:n.706A>C
ENST00000530953.6:c.*294A>C	ENSP00000431372.1:n.*294A>C
ENST00000532207.5:n.527A>C
ENST00000532509.5:c.*561A>C	ENSP00000432522.1:n.*561A>C
ENST00000534334.5:c.*381A>C	ENSP00000435584.1:n.*381A>C
ENST00000541113.5:c.689A>C	ENSP00000442324.1:p.Asp230Ala
NM_000016.5:c.797A>C	NP_000007.1:p.Asp266Ala
NM_001127328.2:c.809A>C	NP_001120800.1:p.Asp270Ala
NM_001286042.1:c.689A>C	NP_001272971.1:p.Asp230Ala
NM_001286043.1:c.896A>C	NP_001272972.1:p.Asp299Ala
NM_001286044.1:c.230A>C	NP_001272973.1:p.Asp77Ala
NM_000016.6:c.797A>C MANE Select	NP_000007.1:p.Asp266Ala
NM_001127328.3:c.809A>C	NP_001120800.1:p.Asp270Ala
NM_001286042.2:c.689A>C	NP_001272971.1:p.Asp230Ala
NM_001286043.2:c.896A>C	NP_001272972.1:p.Asp299Ala
NM_001286044.2:c.230A>C	NP_001272973.1:p.Asp77Ala