Canonical Allele Identifier: CA418530674

Gene: ACADM

Linked Data

• dbSNP Id: rs1338591744
• MyVariant Identifiers: chr1:g.76226828C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761143C>T , CM000663.2:g.75761143C>T	GRCh38
NC_000001.10:g.76226828C>T , CM000663.1:g.76226828C>T	GRCh37
NC_000001.9:g.75999416C>T	NCBI36
NG_007045.2:g.41786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.967C>T MANE Select	ENSP00000359878.5:p.Leu323=
ENST00000473018.3:n.3091C>T
ENST00000532207.6:n.1978C>T
ENST00000541113.6:c.871C>T	ENSP00000442324.2:p.Leu291=
ENST00000679509.1:n.1929C>T
ENST00000679530.1:c.*735C>T	ENSP00000506454.1:n.*735C>T
ENST00000679615.1:n.2982C>T
ENST00000679687.1:c.529C>T	ENSP00000506598.1:p.Leu177=
ENST00000679704.1:c.*733C>T	ENSP00000505117.1:n.*733C>T
ENST00000679709.1:c.*930C>T	ENSP00000506623.1:n.*930C>T
ENST00000679976.1:c.*551C>T	ENSP00000505565.1:n.*551C>T
ENST00000680166.1:n.4256C>T
ENST00000680315.1:n.850C>T
ENST00000680517.1:c.*355C>T	ENSP00000505803.1:n.*355C>T
ENST00000680582.1:n.1929C>T
ENST00000680613.1:c.*460C>T	ENSP00000506114.1:n.*460C>T
ENST00000680662.1:c.*881C>T	ENSP00000505080.1:n.*881C>T
ENST00000680691.1:c.*630C>T	ENSP00000506487.1:n.*630C>T
ENST00000680694.1:c.*555C>T	ENSP00000505658.1:n.*555C>T
ENST00000680743.1:c.*756C>T	ENSP00000505073.1:n.*756C>T
ENST00000680749.1:c.*252C>T	ENSP00000505122.1:n.*252C>T
ENST00000680798.1:c.*442C>T	ENSP00000505670.1:n.*442C>T
ENST00000680805.1:c.826C>T	ENSP00000505447.1:p.Leu276=
ENST00000680844.1:c.*751C>T	ENSP00000506541.1:n.*751C>T
ENST00000680948.1:c.*834C>T	ENSP00000505441.1:n.*834C>T
ENST00000680964.1:c.*60C>T	ENSP00000505961.1:n.*60C>T
ENST00000681037.1:c.*2451C>T	ENSP00000506025.1:n.*2451C>T
ENST00000681063.1:c.*236C>T	ENSP00000506616.1:n.*236C>T
ENST00000681209.1:c.*622C>T	ENSP00000505877.1:n.*622C>T
ENST00000681278.1:n.1669C>T
ENST00000681289.1:n.4962C>T
ENST00000681361.1:c.*634C>T	ENSP00000506679.1:n.*634C>T
ENST00000681430.1:c.*60C>T	ENSP00000506301.1:n.*60C>T
ENST00000681446.1:c.*671C>T	ENSP00000506244.1:n.*671C>T
ENST00000681450.1:c.*638C>T	ENSP00000505660.1:n.*638C>T
ENST00000681548.1:c.*553C>T	ENSP00000505275.1:n.*553C>T
ENST00000681616.1:c.*626C>T	ENSP00000505111.1:n.*626C>T
ENST00000681621.1:c.*551C>T	ENSP00000505770.1:n.*551C>T
ENST00000681680.1:n.3062C>T
ENST00000681720.1:c.*422C>T	ENSP00000505438.1:n.*422C>T
ENST00000681730.1:n.1189C>T
ENST00000681790.1:c.709C>T	ENSP00000505130.1:p.Leu237=
ENST00000681837.1:n.1583C>T
ENST00000681913.1:n.3213C>T
ENST00000681916.1:c.*735C>T	ENSP00000506477.1:n.*735C>T
ENST00000681930.1:n.3091C>T
ENST00000370834.9:c.1066C>T	ENSP00000359871.5:p.Leu356=
ENST00000370841.8:c.967C>T	ENSP00000359878.4:p.Leu323=
ENST00000420607.6:c.979C>T	ENSP00000409612.2:p.Leu327=
ENST00000481374.1:n.240C>T
ENST00000525808.5:c.*553C>T	ENSP00000434823.1:n.*553C>T
ENST00000526129.5:c.*751C>T	ENSP00000434092.1:n.*751C>T
ENST00000526196.5:c.*735C>T	ENSP00000431953.1:n.*735C>T
ENST00000528016.1:c.160-8034C>T	ENSP00000434284.1:n.160-8034C>T
ENST00000529059.5:n.876C>T
ENST00000532207.5:n.697C>T
ENST00000534334.5:c.*708C>T	ENSP00000435584.1:n.*708C>T
ENST00000541113.5:c.859C>T	ENSP00000442324.1:p.Leu287=
NM_000016.5:c.967C>T	NP_000007.1:p.Leu323=
NM_001127328.2:c.979C>T	NP_001120800.1:p.Leu327=
NM_001286042.1:c.859C>T	NP_001272971.1:p.Leu287=
NM_001286043.1:c.1066C>T	NP_001272972.1:p.Leu356=
NM_001286044.1:c.400C>T	NP_001272973.1:p.Leu134=
NM_000016.6:c.967C>T MANE Select	NP_000007.1:p.Leu323=
NM_001127328.3:c.979C>T	NP_001120800.1:p.Leu327=
NM_001286042.2:c.859C>T	NP_001272971.1:p.Leu287=
NM_001286043.2:c.1066C>T	NP_001272972.1:p.Leu356=
NM_001286044.2:c.400C>T	NP_001272973.1:p.Leu134=