Canonical Allele Identifier: CA340818145

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226950T>G (hg19) ; chr1:g.75761265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761265T>G , CM000663.2:g.75761265T>G	GRCh38
NC_000001.10:g.76226950T>G , CM000663.1:g.76226950T>G	GRCh37
NC_000001.9:g.75999538T>G	NCBI36
NG_007045.2:g.41908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1089T>G MANE Select	ENSP00000359878.5:p.Asp363Glu
ENST00000473018.3:n.3213T>G
ENST00000532207.6:n.2100T>G
ENST00000541113.6:c.993T>G	ENSP00000442324.2:p.Asp331Glu
ENST00000679509.1:n.2051T>G
ENST00000679530.1:c.*857T>G	ENSP00000506454.1:n.*857T>G
ENST00000679615.1:n.3104T>G
ENST00000679687.1:c.651T>G	ENSP00000506598.1:p.Asp217Glu
ENST00000679704.1:c.*855T>G	ENSP00000505117.1:n.*855T>G
ENST00000679709.1:c.*1052T>G	ENSP00000506623.1:n.*1052T>G
ENST00000679976.1:c.*673T>G	ENSP00000505565.1:n.*673T>G
ENST00000680166.1:n.4378T>G
ENST00000680315.1:n.972T>G
ENST00000680517.1:c.*477T>G	ENSP00000505803.1:n.*477T>G
ENST00000680582.1:n.2051T>G
ENST00000680613.1:c.*582T>G	ENSP00000506114.1:n.*582T>G
ENST00000680662.1:c.*1003T>G	ENSP00000505080.1:n.*1003T>G
ENST00000680691.1:c.*752T>G	ENSP00000506487.1:n.*752T>G
ENST00000680694.1:c.*677T>G	ENSP00000505658.1:n.*677T>G
ENST00000680743.1:c.*878T>G	ENSP00000505073.1:n.*878T>G
ENST00000680749.1:c.*374T>G	ENSP00000505122.1:n.*374T>G
ENST00000680798.1:c.*564T>G	ENSP00000505670.1:n.*564T>G
ENST00000680805.1:c.948T>G	ENSP00000505447.1:p.Asp316Glu
ENST00000680844.1:c.*873T>G	ENSP00000506541.1:n.*873T>G
ENST00000680948.1:c.*956T>G	ENSP00000505441.1:n.*956T>G
ENST00000680964.1:c.*182T>G	ENSP00000505961.1:n.*182T>G
ENST00000681037.1:c.*2573T>G	ENSP00000506025.1:n.*2573T>G
ENST00000681063.1:c.*358T>G	ENSP00000506616.1:n.*358T>G
ENST00000681209.1:c.*744T>G	ENSP00000505877.1:n.*744T>G
ENST00000681278.1:n.1791T>G
ENST00000681289.1:n.5084T>G
ENST00000681361.1:c.*756T>G	ENSP00000506679.1:n.*756T>G
ENST00000681430.1:c.*182T>G	ENSP00000506301.1:n.*182T>G
ENST00000681446.1:c.*793T>G	ENSP00000506244.1:n.*793T>G
ENST00000681450.1:c.*760T>G	ENSP00000505660.1:n.*760T>G
ENST00000681548.1:c.*675T>G	ENSP00000505275.1:n.*675T>G
ENST00000681616.1:c.*748T>G	ENSP00000505111.1:n.*748T>G
ENST00000681621.1:c.*673T>G	ENSP00000505770.1:n.*673T>G
ENST00000681680.1:n.3184T>G
ENST00000681720.1:c.*544T>G	ENSP00000505438.1:n.*544T>G
ENST00000681730.1:n.1311T>G
ENST00000681790.1:c.831T>G	ENSP00000505130.1:p.Asp277Glu
ENST00000681837.1:n.1705T>G
ENST00000681913.1:n.3335T>G
ENST00000681916.1:c.*857T>G	ENSP00000506477.1:n.*857T>G
ENST00000681930.1:n.3213T>G
ENST00000370834.9:c.1188T>G	ENSP00000359871.5:p.Asp396Glu
ENST00000370841.8:c.1089T>G	ENSP00000359878.4:p.Asp363Glu
ENST00000420607.6:c.1101T>G	ENSP00000409612.2:p.Asp367Glu
ENST00000481374.1:n.362T>G
ENST00000525808.5:c.*675T>G	ENSP00000434823.1:n.*675T>G
ENST00000526129.5:c.*873T>G	ENSP00000434092.1:n.*873T>G
ENST00000526196.5:c.*857T>G	ENSP00000431953.1:n.*857T>G
ENST00000528016.1:c.160-7912T>G	ENSP00000434284.1:n.160-7912T>G
ENST00000529059.5:n.998T>G
ENST00000541113.5:c.981T>G	ENSP00000442324.1:p.Asp327Glu
NM_000016.5:c.1089T>G	NP_000007.1:p.Asp363Glu
NM_001127328.2:c.1101T>G	NP_001120800.1:p.Asp367Glu
NM_001286042.1:c.981T>G	NP_001272971.1:p.Asp327Glu
NM_001286043.1:c.1188T>G	NP_001272972.1:p.Asp396Glu
NM_001286044.1:c.522T>G	NP_001272973.1:p.Asp174Glu
NM_000016.6:c.1089T>G MANE Select	NP_000007.1:p.Asp363Glu
NM_001127328.3:c.1101T>G	NP_001120800.1:p.Asp367Glu
NM_001286042.2:c.981T>G	NP_001272971.1:p.Asp327Glu
NM_001286043.2:c.1188T>G	NP_001272972.1:p.Asp396Glu
NM_001286044.2:c.522T>G	NP_001272973.1:p.Asp174Glu