Canonical Allele Identifier: CA418707816

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227040T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761355T>C , CM000663.2:g.75761355T>C	GRCh38
NC_000001.10:g.76227040T>C , CM000663.1:g.76227040T>C	GRCh37
NC_000001.9:g.75999628T>C	NCBI36
NG_007045.2:g.41998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1179T>C MANE Select	ENSP00000359878.5:p.Asp393=
ENST00000473018.3:n.3303T>C
ENST00000532207.6:n.2190T>C
ENST00000541113.6:c.1083T>C	ENSP00000442324.2:p.Asp361=
ENST00000679509.1:n.2141T>C
ENST00000679530.1:c.*947T>C	ENSP00000506454.1:n.*947T>C
ENST00000679615.1:n.3194T>C
ENST00000679687.1:c.741T>C	ENSP00000506598.1:p.Asp247=
ENST00000679704.1:c.*945T>C	ENSP00000505117.1:n.*945T>C
ENST00000679709.1:c.*1142T>C	ENSP00000506623.1:n.*1142T>C
ENST00000679976.1:c.*763T>C	ENSP00000505565.1:n.*763T>C
ENST00000680166.1:n.4468T>C
ENST00000680315.1:n.1062T>C
ENST00000680517.1:c.*567T>C	ENSP00000505803.1:n.*567T>C
ENST00000680582.1:n.2141T>C
ENST00000680613.1:c.*672T>C	ENSP00000506114.1:n.*672T>C
ENST00000680662.1:c.*1093T>C	ENSP00000505080.1:n.*1093T>C
ENST00000680691.1:c.*842T>C	ENSP00000506487.1:n.*842T>C
ENST00000680694.1:c.*767T>C	ENSP00000505658.1:n.*767T>C
ENST00000680743.1:c.*968T>C	ENSP00000505073.1:n.*968T>C
ENST00000680749.1:c.*464T>C	ENSP00000505122.1:n.*464T>C
ENST00000680798.1:c.*654T>C	ENSP00000505670.1:n.*654T>C
ENST00000680805.1:c.1038T>C	ENSP00000505447.1:p.Asp346=
ENST00000680844.1:c.*963T>C	ENSP00000506541.1:n.*963T>C
ENST00000680948.1:c.*1046T>C	ENSP00000505441.1:n.*1046T>C
ENST00000680964.1:c.*272T>C	ENSP00000505961.1:n.*272T>C
ENST00000681037.1:c.*2663T>C	ENSP00000506025.1:n.*2663T>C
ENST00000681063.1:c.*448T>C	ENSP00000506616.1:n.*448T>C
ENST00000681209.1:c.*834T>C	ENSP00000505877.1:n.*834T>C
ENST00000681278.1:n.1881T>C
ENST00000681289.1:n.5174T>C
ENST00000681361.1:c.*846T>C	ENSP00000506679.1:n.*846T>C
ENST00000681430.1:c.*272T>C	ENSP00000506301.1:n.*272T>C
ENST00000681446.1:c.*883T>C	ENSP00000506244.1:n.*883T>C
ENST00000681450.1:c.*850T>C	ENSP00000505660.1:n.*850T>C
ENST00000681548.1:c.*765T>C	ENSP00000505275.1:n.*765T>C
ENST00000681616.1:c.*838T>C	ENSP00000505111.1:n.*838T>C
ENST00000681621.1:c.*763T>C	ENSP00000505770.1:n.*763T>C
ENST00000681680.1:n.3274T>C
ENST00000681720.1:c.*634T>C	ENSP00000505438.1:n.*634T>C
ENST00000681730.1:n.1401T>C
ENST00000681790.1:c.921T>C	ENSP00000505130.1:p.Asp307=
ENST00000681837.1:n.1795T>C
ENST00000681913.1:n.3425T>C
ENST00000681916.1:c.*947T>C	ENSP00000506477.1:n.*947T>C
ENST00000681930.1:n.3303T>C
ENST00000370834.9:c.1278T>C	ENSP00000359871.5:p.Asp426=
ENST00000370841.8:c.1179T>C	ENSP00000359878.4:p.Asp393=
ENST00000420607.6:c.1191T>C	ENSP00000409612.2:p.Asp397=
ENST00000481374.1:n.452T>C
ENST00000525808.5:c.*765T>C	ENSP00000434823.1:n.*765T>C
ENST00000526129.5:c.*963T>C	ENSP00000434092.1:n.*963T>C
ENST00000526196.5:c.*947T>C	ENSP00000431953.1:n.*947T>C
ENST00000528016.1:c.160-7822T>C	ENSP00000434284.1:n.160-7822T>C
ENST00000529059.5:n.1088T>C
ENST00000541113.5:c.1071T>C	ENSP00000442324.1:p.Asp357=
NM_000016.5:c.1179T>C	NP_000007.1:p.Asp393=
NM_001127328.2:c.1191T>C	NP_001120800.1:p.Asp397=
NM_001286042.1:c.1071T>C	NP_001272971.1:p.Asp357=
NM_001286043.1:c.1278T>C	NP_001272972.1:p.Asp426=
NM_001286044.1:c.612T>C	NP_001272973.1:p.Asp204=
NM_000016.6:c.1179T>C MANE Select	NP_000007.1:p.Asp393=
NM_001127328.3:c.1191T>C	NP_001120800.1:p.Asp397=
NM_001286042.2:c.1071T>C	NP_001272971.1:p.Asp357=
NM_001286043.2:c.1278T>C	NP_001272972.1:p.Asp426=
NM_001286044.2:c.612T>C	NP_001272973.1:p.Asp204=