Canonical Allele Identifier: CA340818364

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227053C>G (hg19) ; chr1:g.75761368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761368C>G , CM000663.2:g.75761368C>G	GRCh38
NC_000001.10:g.76227053C>G , CM000663.1:g.76227053C>G	GRCh37
NC_000001.9:g.75999641C>G	NCBI36
NG_007045.2:g.42011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1192C>G MANE Select	ENSP00000359878.5:p.Gln398Glu
ENST00000473018.3:n.3316C>G
ENST00000532207.6:n.2203C>G
ENST00000541113.6:c.1096C>G	ENSP00000442324.2:p.Gln366Glu
ENST00000679509.1:n.2154C>G
ENST00000679530.1:c.*960C>G	ENSP00000506454.1:n.*960C>G
ENST00000679615.1:n.3207C>G
ENST00000679687.1:c.754C>G	ENSP00000506598.1:p.Gln252Glu
ENST00000679704.1:c.*958C>G	ENSP00000505117.1:n.*958C>G
ENST00000679709.1:c.*1155C>G	ENSP00000506623.1:n.*1155C>G
ENST00000679976.1:c.*776C>G	ENSP00000505565.1:n.*776C>G
ENST00000680166.1:n.4481C>G
ENST00000680315.1:n.1075C>G
ENST00000680517.1:c.*580C>G	ENSP00000505803.1:n.*580C>G
ENST00000680582.1:n.2154C>G
ENST00000680613.1:c.*685C>G	ENSP00000506114.1:n.*685C>G
ENST00000680662.1:c.*1106C>G	ENSP00000505080.1:n.*1106C>G
ENST00000680691.1:c.*855C>G	ENSP00000506487.1:n.*855C>G
ENST00000680694.1:c.*780C>G	ENSP00000505658.1:n.*780C>G
ENST00000680743.1:c.*981C>G	ENSP00000505073.1:n.*981C>G
ENST00000680749.1:c.*477C>G	ENSP00000505122.1:n.*477C>G
ENST00000680798.1:c.*667C>G	ENSP00000505670.1:n.*667C>G
ENST00000680805.1:c.1051C>G	ENSP00000505447.1:p.Gln351Glu
ENST00000680844.1:c.*976C>G	ENSP00000506541.1:n.*976C>G
ENST00000680948.1:c.*1059C>G	ENSP00000505441.1:n.*1059C>G
ENST00000680964.1:c.*285C>G	ENSP00000505961.1:n.*285C>G
ENST00000681037.1:c.*2676C>G	ENSP00000506025.1:n.*2676C>G
ENST00000681063.1:c.*461C>G	ENSP00000506616.1:n.*461C>G
ENST00000681209.1:c.*847C>G	ENSP00000505877.1:n.*847C>G
ENST00000681278.1:n.1894C>G
ENST00000681289.1:n.5187C>G
ENST00000681361.1:c.*859C>G	ENSP00000506679.1:n.*859C>G
ENST00000681430.1:c.*285C>G	ENSP00000506301.1:n.*285C>G
ENST00000681446.1:c.*896C>G	ENSP00000506244.1:n.*896C>G
ENST00000681450.1:c.*863C>G	ENSP00000505660.1:n.*863C>G
ENST00000681548.1:c.*778C>G	ENSP00000505275.1:n.*778C>G
ENST00000681616.1:c.*851C>G	ENSP00000505111.1:n.*851C>G
ENST00000681621.1:c.*776C>G	ENSP00000505770.1:n.*776C>G
ENST00000681680.1:n.3287C>G
ENST00000681720.1:c.*647C>G	ENSP00000505438.1:n.*647C>G
ENST00000681730.1:n.1414C>G
ENST00000681790.1:c.934C>G	ENSP00000505130.1:p.Gln312Glu
ENST00000681837.1:n.1808C>G
ENST00000681913.1:n.3438C>G
ENST00000681916.1:c.*960C>G	ENSP00000506477.1:n.*960C>G
ENST00000681930.1:n.3316C>G
ENST00000370834.9:c.1291C>G	ENSP00000359871.5:p.Gln431Glu
ENST00000370841.8:c.1192C>G	ENSP00000359878.4:p.Gln398Glu
ENST00000420607.6:c.1204C>G	ENSP00000409612.2:p.Gln402Glu
ENST00000481374.1:n.465C>G
ENST00000525808.5:c.*778C>G	ENSP00000434823.1:n.*778C>G
ENST00000526129.5:c.*976C>G	ENSP00000434092.1:n.*976C>G
ENST00000526196.5:c.*960C>G	ENSP00000431953.1:n.*960C>G
ENST00000528016.1:c.160-7809C>G	ENSP00000434284.1:n.160-7809C>G
ENST00000529059.5:n.1101C>G
ENST00000541113.5:c.1084C>G	ENSP00000442324.1:p.Gln362Glu
NM_000016.5:c.1192C>G	NP_000007.1:p.Gln398Glu
NM_001127328.2:c.1204C>G	NP_001120800.1:p.Gln402Glu
NM_001286042.1:c.1084C>G	NP_001272971.1:p.Gln362Glu
NM_001286043.1:c.1291C>G	NP_001272972.1:p.Gln431Glu
NM_001286044.1:c.625C>G	NP_001272973.1:p.Gln209Glu
NM_000016.6:c.1192C>G MANE Select	NP_000007.1:p.Gln398Glu
NM_001127328.3:c.1204C>G	NP_001120800.1:p.Gln402Glu
NM_001286042.2:c.1084C>G	NP_001272971.1:p.Gln362Glu
NM_001286043.2:c.1291C>G	NP_001272972.1:p.Gln431Glu
NM_001286044.2:c.625C>G	NP_001272973.1:p.Gln209Glu