Canonical Allele Identifier: CA340816800

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215227G>A (hg19) ; chr1:g.75749542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749542G>A , CM000663.2:g.75749542G>A	GRCh38
NC_000001.10:g.76215227G>A , CM000663.1:g.76215227G>A	GRCh37
NC_000001.9:g.75987815G>A	NCBI36
NG_007045.2:g.30185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.832G>A MANE Select	ENSP00000359878.5:p.Asp278Asn
ENST00000473018.3:n.2956G>A
ENST00000532207.6:n.1721G>A
ENST00000541113.6:c.832G>A	ENSP00000442324.2:p.Asp278Asn
ENST00000679509.1:n.1794G>A
ENST00000679530.1:c.*600G>A	ENSP00000506454.1:n.*600G>A
ENST00000679615.1:n.2847G>A
ENST00000679687.1:c.394G>A	ENSP00000506598.1:p.Asp132Asn
ENST00000679704.1:c.*598G>A	ENSP00000505117.1:n.*598G>A
ENST00000679709.1:c.*795G>A	ENSP00000506623.1:n.*795G>A
ENST00000679976.1:c.*416G>A	ENSP00000505565.1:n.*416G>A
ENST00000680166.1:n.4121G>A
ENST00000680517.1:c.*220G>A	ENSP00000505803.1:n.*220G>A
ENST00000680582.1:n.1794G>A
ENST00000680613.1:c.*203G>A	ENSP00000506114.1:n.*203G>A
ENST00000680662.1:c.*746G>A	ENSP00000505080.1:n.*746G>A
ENST00000680691.1:c.*495G>A	ENSP00000506487.1:n.*495G>A
ENST00000680694.1:c.*420G>A	ENSP00000505658.1:n.*420G>A
ENST00000680743.1:c.*499G>A	ENSP00000505073.1:n.*499G>A
ENST00000680749.1:c.*117G>A	ENSP00000505122.1:n.*117G>A
ENST00000680798.1:c.*307G>A	ENSP00000505670.1:n.*307G>A
ENST00000680805.1:c.709-909G>A	ENSP00000505447.1:n.709-909G>A
ENST00000680844.1:c.*616G>A	ENSP00000506541.1:n.*616G>A
ENST00000680948.1:c.*699G>A	ENSP00000505441.1:n.*699G>A
ENST00000680964.1:c.832G>A	ENSP00000505961.1:p.Asp278Asn
ENST00000681037.1:c.*2316G>A	ENSP00000506025.1:n.*2316G>A
ENST00000681063.1:c.600-909G>A	ENSP00000506616.1:n.600-909G>A
ENST00000681209.1:c.*487G>A	ENSP00000505877.1:n.*487G>A
ENST00000681278.1:n.1189G>A
ENST00000681289.1:n.4827G>A
ENST00000681361.1:c.*499G>A	ENSP00000506679.1:n.*499G>A
ENST00000681430.1:c.832G>A	ENSP00000506301.1:p.Asp278Asn
ENST00000681446.1:c.*414G>A	ENSP00000506244.1:n.*414G>A
ENST00000681450.1:c.*503G>A	ENSP00000505660.1:n.*503G>A
ENST00000681548.1:c.*418G>A	ENSP00000505275.1:n.*418G>A
ENST00000681616.1:c.*491G>A	ENSP00000505111.1:n.*491G>A
ENST00000681621.1:c.*416G>A	ENSP00000505770.1:n.*416G>A
ENST00000681680.1:n.2927G>A
ENST00000681720.1:c.*287G>A	ENSP00000505438.1:n.*287G>A
ENST00000681730.1:n.1054G>A
ENST00000681790.1:c.574G>A	ENSP00000505130.1:p.Asp192Asn
ENST00000681837.1:n.1448G>A
ENST00000681913.1:n.2956G>A
ENST00000681916.1:c.*600G>A	ENSP00000506477.1:n.*600G>A
ENST00000681930.1:n.2956G>A
ENST00000370834.9:c.931G>A	ENSP00000359871.5:p.Asp311Asn
ENST00000370841.8:c.832G>A	ENSP00000359878.4:p.Asp278Asn
ENST00000420607.6:c.844G>A	ENSP00000409612.2:p.Asp282Asn
ENST00000525808.5:c.*418G>A	ENSP00000434823.1:n.*418G>A
ENST00000526129.5:c.*616G>A	ENSP00000434092.1:n.*616G>A
ENST00000526196.5:c.*600G>A	ENSP00000431953.1:n.*600G>A
ENST00000528016.1:c.46G>A	ENSP00000434284.1:p.Asp16Asn
ENST00000529059.5:n.741G>A
ENST00000532207.5:n.562G>A
ENST00000532509.5:c.*596G>A	ENSP00000432522.1:n.*596G>A
ENST00000534334.5:c.*416G>A	ENSP00000435584.1:n.*416G>A
ENST00000541113.5:c.724G>A	ENSP00000442324.1:p.Asp242Asn
NM_000016.5:c.832G>A	NP_000007.1:p.Asp278Asn
NM_001127328.2:c.844G>A	NP_001120800.1:p.Asp282Asn
NM_001286042.1:c.724G>A	NP_001272971.1:p.Asp242Asn
NM_001286043.1:c.931G>A	NP_001272972.1:p.Asp311Asn
NM_001286044.1:c.265G>A	NP_001272973.1:p.Asp89Asn
NM_000016.6:c.832G>A MANE Select	NP_000007.1:p.Asp278Asn
NM_001127328.3:c.844G>A	NP_001120800.1:p.Asp282Asn
NM_001286042.2:c.724G>A	NP_001272971.1:p.Asp242Asn
NM_001286043.2:c.931G>A	NP_001272972.1:p.Asp311Asn
NM_001286044.2:c.265G>A	NP_001272973.1:p.Asp89Asn