Canonical Allele Identifier: CA913231

Gene: ACADM

Linked Data

• dbSNP Id: rs767223494
• ExAC: 1:76216143 C / T
• gnomAD v2: 1-76216143-C-T
• gnomAD v4: 1-75750458-C-T
• MyVariant Identifiers: chr1:g.76216143C>T (hg19) ; chr1:g.75750458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750458C>T , CM000663.2:g.75750458C>T	GRCh38
NC_000001.10:g.76216143C>T , CM000663.1:g.76216143C>T	GRCh37
NC_000001.9:g.75988731C>T	NCBI36
NG_007045.2:g.31101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.857C>T MANE Select	ENSP00000359878.5:p.Ala286Val
ENST00000473018.3:n.2981C>T
ENST00000532207.6:n.1746C>T
ENST00000541113.6:c.849+899C>T	ENSP00000442324.2:n.849+899C>T
ENST00000679509.1:n.1819C>T
ENST00000679530.1:c.*625C>T	ENSP00000506454.1:n.*625C>T
ENST00000679615.1:n.2872C>T
ENST00000679687.1:c.419C>T	ENSP00000506598.1:p.Ala140Val
ENST00000679704.1:c.*623C>T	ENSP00000505117.1:n.*623C>T
ENST00000679709.1:c.*820C>T	ENSP00000506623.1:n.*820C>T
ENST00000679976.1:c.*441C>T	ENSP00000505565.1:n.*441C>T
ENST00000680166.1:n.4146C>T
ENST00000680315.1:n.740C>T
ENST00000680517.1:c.*245C>T	ENSP00000505803.1:n.*245C>T
ENST00000680582.1:n.1819C>T
ENST00000680613.1:c.*228C>T	ENSP00000506114.1:n.*228C>T
ENST00000680662.1:c.*771C>T	ENSP00000505080.1:n.*771C>T
ENST00000680691.1:c.*520C>T	ENSP00000506487.1:n.*520C>T
ENST00000680694.1:c.*445C>T	ENSP00000505658.1:n.*445C>T
ENST00000680743.1:c.*524C>T	ENSP00000505073.1:n.*524C>T
ENST00000680749.1:c.*142C>T	ENSP00000505122.1:n.*142C>T
ENST00000680798.1:c.*332C>T	ENSP00000505670.1:n.*332C>T
ENST00000680805.1:c.716C>T	ENSP00000505447.1:p.Ala239Val
ENST00000680844.1:c.*641C>T	ENSP00000506541.1:n.*641C>T
ENST00000680948.1:c.*724C>T	ENSP00000505441.1:n.*724C>T
ENST00000680964.1:c.857C>T	ENSP00000505961.1:p.Ala286Val
ENST00000681037.1:c.*2341C>T	ENSP00000506025.1:n.*2341C>T
ENST00000681063.1:c.*4C>T	ENSP00000506616.1:n.*4C>T
ENST00000681209.1:c.*512C>T	ENSP00000505877.1:n.*512C>T
ENST00000681278.1:n.1214C>T
ENST00000681289.1:n.4852C>T
ENST00000681361.1:c.*524C>T	ENSP00000506679.1:n.*524C>T
ENST00000681430.1:c.857C>T	ENSP00000506301.1:p.Ala286Val
ENST00000681446.1:c.*439C>T	ENSP00000506244.1:n.*439C>T
ENST00000681450.1:c.*528C>T	ENSP00000505660.1:n.*528C>T
ENST00000681548.1:c.*443C>T	ENSP00000505275.1:n.*443C>T
ENST00000681616.1:c.*516C>T	ENSP00000505111.1:n.*516C>T
ENST00000681621.1:c.*441C>T	ENSP00000505770.1:n.*441C>T
ENST00000681680.1:n.2952C>T
ENST00000681720.1:c.*312C>T	ENSP00000505438.1:n.*312C>T
ENST00000681730.1:n.1079C>T
ENST00000681790.1:c.599C>T	ENSP00000505130.1:p.Ala200Val
ENST00000681837.1:n.1473C>T
ENST00000681913.1:n.2981C>T
ENST00000681916.1:c.*625C>T	ENSP00000506477.1:n.*625C>T
ENST00000681930.1:n.2981C>T
ENST00000370834.9:c.956C>T	ENSP00000359871.5:p.Ala319Val
ENST00000370841.8:c.857C>T	ENSP00000359878.4:p.Ala286Val
ENST00000420607.6:c.869C>T	ENSP00000409612.2:p.Ala290Val
ENST00000481374.1:n.8C>T
ENST00000525808.5:c.*443C>T	ENSP00000434823.1:n.*443C>T
ENST00000526129.5:c.*641C>T	ENSP00000434092.1:n.*641C>T
ENST00000526196.5:c.*625C>T	ENSP00000431953.1:n.*625C>T
ENST00000528016.1:c.71C>T	ENSP00000434284.1:p.Ala24Val
ENST00000529059.5:n.766C>T
ENST00000532207.5:n.587C>T
ENST00000534334.5:c.*441C>T	ENSP00000435584.1:n.*441C>T
ENST00000541113.5:c.749C>T	ENSP00000442324.1:p.Ala250Val
NM_000016.5:c.857C>T	NP_000007.1:p.Ala286Val
NM_001127328.2:c.869C>T	NP_001120800.1:p.Ala290Val
NM_001286042.1:c.749C>T	NP_001272971.1:p.Ala250Val
NM_001286043.1:c.956C>T	NP_001272972.1:p.Ala319Val
NM_001286044.1:c.290C>T	NP_001272973.1:p.Ala97Val
NM_000016.6:c.857C>T MANE Select	NP_000007.1:p.Ala286Val
NM_001127328.3:c.869C>T	NP_001120800.1:p.Ala290Val
NM_001286042.2:c.749C>T	NP_001272971.1:p.Ala250Val
NM_001286043.2:c.956C>T	NP_001272972.1:p.Ala319Val
NM_001286044.2:c.290C>T	NP_001272973.1:p.Ala97Val