Canonical Allele Identifier: CA340818200

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226976C>G (hg19) ; chr1:g.75761291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761291C>G , CM000663.2:g.75761291C>G	GRCh38
NC_000001.10:g.76226976C>G , CM000663.1:g.76226976C>G	GRCh37
NC_000001.9:g.75999564C>G	NCBI36
NG_007045.2:g.41934C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1115C>G MANE Select	ENSP00000359878.5:p.Ala372Gly
ENST00000473018.3:n.3239C>G
ENST00000532207.6:n.2126C>G
ENST00000541113.6:c.1019C>G	ENSP00000442324.2:p.Ala340Gly
ENST00000679509.1:n.2077C>G
ENST00000679530.1:c.*883C>G	ENSP00000506454.1:n.*883C>G
ENST00000679615.1:n.3130C>G
ENST00000679687.1:c.677C>G	ENSP00000506598.1:p.Ala226Gly
ENST00000679704.1:c.*881C>G	ENSP00000505117.1:n.*881C>G
ENST00000679709.1:c.*1078C>G	ENSP00000506623.1:n.*1078C>G
ENST00000679976.1:c.*699C>G	ENSP00000505565.1:n.*699C>G
ENST00000680166.1:n.4404C>G
ENST00000680315.1:n.998C>G
ENST00000680517.1:c.*503C>G	ENSP00000505803.1:n.*503C>G
ENST00000680582.1:n.2077C>G
ENST00000680613.1:c.*608C>G	ENSP00000506114.1:n.*608C>G
ENST00000680662.1:c.*1029C>G	ENSP00000505080.1:n.*1029C>G
ENST00000680691.1:c.*778C>G	ENSP00000506487.1:n.*778C>G
ENST00000680694.1:c.*703C>G	ENSP00000505658.1:n.*703C>G
ENST00000680743.1:c.*904C>G	ENSP00000505073.1:n.*904C>G
ENST00000680749.1:c.*400C>G	ENSP00000505122.1:n.*400C>G
ENST00000680798.1:c.*590C>G	ENSP00000505670.1:n.*590C>G
ENST00000680805.1:c.974C>G	ENSP00000505447.1:p.Ala325Gly
ENST00000680844.1:c.*899C>G	ENSP00000506541.1:n.*899C>G
ENST00000680948.1:c.*982C>G	ENSP00000505441.1:n.*982C>G
ENST00000680964.1:c.*208C>G	ENSP00000505961.1:n.*208C>G
ENST00000681037.1:c.*2599C>G	ENSP00000506025.1:n.*2599C>G
ENST00000681063.1:c.*384C>G	ENSP00000506616.1:n.*384C>G
ENST00000681209.1:c.*770C>G	ENSP00000505877.1:n.*770C>G
ENST00000681278.1:n.1817C>G
ENST00000681289.1:n.5110C>G
ENST00000681361.1:c.*782C>G	ENSP00000506679.1:n.*782C>G
ENST00000681430.1:c.*208C>G	ENSP00000506301.1:n.*208C>G
ENST00000681446.1:c.*819C>G	ENSP00000506244.1:n.*819C>G
ENST00000681450.1:c.*786C>G	ENSP00000505660.1:n.*786C>G
ENST00000681548.1:c.*701C>G	ENSP00000505275.1:n.*701C>G
ENST00000681616.1:c.*774C>G	ENSP00000505111.1:n.*774C>G
ENST00000681621.1:c.*699C>G	ENSP00000505770.1:n.*699C>G
ENST00000681680.1:n.3210C>G
ENST00000681720.1:c.*570C>G	ENSP00000505438.1:n.*570C>G
ENST00000681730.1:n.1337C>G
ENST00000681790.1:c.857C>G	ENSP00000505130.1:p.Ala286Gly
ENST00000681837.1:n.1731C>G
ENST00000681913.1:n.3361C>G
ENST00000681916.1:c.*883C>G	ENSP00000506477.1:n.*883C>G
ENST00000681930.1:n.3239C>G
ENST00000370834.9:c.1214C>G	ENSP00000359871.5:p.Ala405Gly
ENST00000370841.8:c.1115C>G	ENSP00000359878.4:p.Ala372Gly
ENST00000420607.6:c.1127C>G	ENSP00000409612.2:p.Ala376Gly
ENST00000481374.1:n.388C>G
ENST00000525808.5:c.*701C>G	ENSP00000434823.1:n.*701C>G
ENST00000526129.5:c.*899C>G	ENSP00000434092.1:n.*899C>G
ENST00000526196.5:c.*883C>G	ENSP00000431953.1:n.*883C>G
ENST00000528016.1:c.160-7886C>G	ENSP00000434284.1:n.160-7886C>G
ENST00000529059.5:n.1024C>G
ENST00000541113.5:c.1007C>G	ENSP00000442324.1:p.Ala336Gly
NM_000016.5:c.1115C>G	NP_000007.1:p.Ala372Gly
NM_001127328.2:c.1127C>G	NP_001120800.1:p.Ala376Gly
NM_001286042.1:c.1007C>G	NP_001272971.1:p.Ala336Gly
NM_001286043.1:c.1214C>G	NP_001272972.1:p.Ala405Gly
NM_001286044.1:c.548C>G	NP_001272973.1:p.Ala183Gly
NM_000016.6:c.1115C>G MANE Select	NP_000007.1:p.Ala372Gly
NM_001127328.3:c.1127C>G	NP_001120800.1:p.Ala376Gly
NM_001286042.2:c.1007C>G	NP_001272971.1:p.Ala336Gly
NM_001286043.2:c.1214C>G	NP_001272972.1:p.Ala405Gly
NM_001286044.2:c.548C>G	NP_001272973.1:p.Ala183Gly