Canonical Allele Identifier: CA913232

Gene: ACADM

Linked Data

• dbSNP Id: rs749914987
• ExAC: 1:76216149 C / T
• gnomAD v2: 1-76216149-C-T
• gnomAD v4: 1-75750464-C-T
• MyVariant Identifiers: chr1:g.76216149C>T (hg19) ; chr1:g.75750464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750464C>T , CM000663.2:g.75750464C>T	GRCh38
NC_000001.10:g.76216149C>T , CM000663.1:g.76216149C>T	GRCh37
NC_000001.9:g.75988737C>T	NCBI36
NG_007045.2:g.31107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.863C>T MANE Select	ENSP00000359878.5:p.Ala288Val
ENST00000473018.3:n.2987C>T
ENST00000532207.6:n.1752C>T
ENST00000541113.6:c.849+905C>T	ENSP00000442324.2:n.849+905C>T
ENST00000679509.1:n.1825C>T
ENST00000679530.1:c.*631C>T	ENSP00000506454.1:n.*631C>T
ENST00000679615.1:n.2878C>T
ENST00000679687.1:c.425C>T	ENSP00000506598.1:p.Ala142Val
ENST00000679704.1:c.*629C>T	ENSP00000505117.1:n.*629C>T
ENST00000679709.1:c.*826C>T	ENSP00000506623.1:n.*826C>T
ENST00000679976.1:c.*447C>T	ENSP00000505565.1:n.*447C>T
ENST00000680166.1:n.4152C>T
ENST00000680315.1:n.746C>T
ENST00000680517.1:c.*251C>T	ENSP00000505803.1:n.*251C>T
ENST00000680582.1:n.1825C>T
ENST00000680613.1:c.*234C>T	ENSP00000506114.1:n.*234C>T
ENST00000680662.1:c.*777C>T	ENSP00000505080.1:n.*777C>T
ENST00000680691.1:c.*526C>T	ENSP00000506487.1:n.*526C>T
ENST00000680694.1:c.*451C>T	ENSP00000505658.1:n.*451C>T
ENST00000680743.1:c.*530C>T	ENSP00000505073.1:n.*530C>T
ENST00000680749.1:c.*148C>T	ENSP00000505122.1:n.*148C>T
ENST00000680798.1:c.*338C>T	ENSP00000505670.1:n.*338C>T
ENST00000680805.1:c.722C>T	ENSP00000505447.1:p.Ala241Val
ENST00000680844.1:c.*647C>T	ENSP00000506541.1:n.*647C>T
ENST00000680948.1:c.*730C>T	ENSP00000505441.1:n.*730C>T
ENST00000680964.1:c.863C>T	ENSP00000505961.1:p.Ala288Val
ENST00000681037.1:c.*2347C>T	ENSP00000506025.1:n.*2347C>T
ENST00000681063.1:c.*10C>T	ENSP00000506616.1:n.*10C>T
ENST00000681209.1:c.*518C>T	ENSP00000505877.1:n.*518C>T
ENST00000681278.1:n.1220C>T
ENST00000681289.1:n.4858C>T
ENST00000681361.1:c.*530C>T	ENSP00000506679.1:n.*530C>T
ENST00000681430.1:c.863C>T	ENSP00000506301.1:p.Ala288Val
ENST00000681446.1:c.*445C>T	ENSP00000506244.1:n.*445C>T
ENST00000681450.1:c.*534C>T	ENSP00000505660.1:n.*534C>T
ENST00000681548.1:c.*449C>T	ENSP00000505275.1:n.*449C>T
ENST00000681616.1:c.*522C>T	ENSP00000505111.1:n.*522C>T
ENST00000681621.1:c.*447C>T	ENSP00000505770.1:n.*447C>T
ENST00000681680.1:n.2958C>T
ENST00000681720.1:c.*318C>T	ENSP00000505438.1:n.*318C>T
ENST00000681730.1:n.1085C>T
ENST00000681790.1:c.605C>T	ENSP00000505130.1:p.Ala202Val
ENST00000681837.1:n.1479C>T
ENST00000681913.1:n.2987C>T
ENST00000681916.1:c.*631C>T	ENSP00000506477.1:n.*631C>T
ENST00000681930.1:n.2987C>T
ENST00000370834.9:c.962C>T	ENSP00000359871.5:p.Ala321Val
ENST00000370841.8:c.863C>T	ENSP00000359878.4:p.Ala288Val
ENST00000420607.6:c.875C>T	ENSP00000409612.2:p.Ala292Val
ENST00000481374.1:n.14C>T
ENST00000525808.5:c.*449C>T	ENSP00000434823.1:n.*449C>T
ENST00000526129.5:c.*647C>T	ENSP00000434092.1:n.*647C>T
ENST00000526196.5:c.*631C>T	ENSP00000431953.1:n.*631C>T
ENST00000528016.1:c.77C>T	ENSP00000434284.1:p.Ala26Val
ENST00000529059.5:n.772C>T
ENST00000532207.5:n.593C>T
ENST00000534334.5:c.*447C>T	ENSP00000435584.1:n.*447C>T
ENST00000541113.5:c.755C>T	ENSP00000442324.1:p.Ala252Val
NM_000016.5:c.863C>T	NP_000007.1:p.Ala288Val
NM_001127328.2:c.875C>T	NP_001120800.1:p.Ala292Val
NM_001286042.1:c.755C>T	NP_001272971.1:p.Ala252Val
NM_001286043.1:c.962C>T	NP_001272972.1:p.Ala321Val
NM_001286044.1:c.296C>T	NP_001272973.1:p.Ala99Val
NM_000016.6:c.863C>T MANE Select	NP_000007.1:p.Ala288Val
NM_001127328.3:c.875C>T	NP_001120800.1:p.Ala292Val
NM_001286042.2:c.755C>T	NP_001272971.1:p.Ala252Val
NM_001286043.2:c.962C>T	NP_001272972.1:p.Ala321Val
NM_001286044.2:c.296C>T	NP_001272973.1:p.Ala99Val