Canonical Allele Identifier: CA418707806

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227031A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761346A>G , CM000663.2:g.75761346A>G	GRCh38
NC_000001.10:g.76227031A>G , CM000663.1:g.76227031A>G	GRCh37
NC_000001.9:g.75999619A>G	NCBI36
NG_007045.2:g.41989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1170A>G MANE Select	ENSP00000359878.5:p.Leu390=
ENST00000473018.3:n.3294A>G
ENST00000532207.6:n.2181A>G
ENST00000541113.6:c.1074A>G	ENSP00000442324.2:p.Leu358=
ENST00000679509.1:n.2132A>G
ENST00000679530.1:c.*938A>G	ENSP00000506454.1:n.*938A>G
ENST00000679615.1:n.3185A>G
ENST00000679687.1:c.732A>G	ENSP00000506598.1:p.Leu244=
ENST00000679704.1:c.*936A>G	ENSP00000505117.1:n.*936A>G
ENST00000679709.1:c.*1133A>G	ENSP00000506623.1:n.*1133A>G
ENST00000679976.1:c.*754A>G	ENSP00000505565.1:n.*754A>G
ENST00000680166.1:n.4459A>G
ENST00000680315.1:n.1053A>G
ENST00000680517.1:c.*558A>G	ENSP00000505803.1:n.*558A>G
ENST00000680582.1:n.2132A>G
ENST00000680613.1:c.*663A>G	ENSP00000506114.1:n.*663A>G
ENST00000680662.1:c.*1084A>G	ENSP00000505080.1:n.*1084A>G
ENST00000680691.1:c.*833A>G	ENSP00000506487.1:n.*833A>G
ENST00000680694.1:c.*758A>G	ENSP00000505658.1:n.*758A>G
ENST00000680743.1:c.*959A>G	ENSP00000505073.1:n.*959A>G
ENST00000680749.1:c.*455A>G	ENSP00000505122.1:n.*455A>G
ENST00000680798.1:c.*645A>G	ENSP00000505670.1:n.*645A>G
ENST00000680805.1:c.1029A>G	ENSP00000505447.1:p.Leu343=
ENST00000680844.1:c.*954A>G	ENSP00000506541.1:n.*954A>G
ENST00000680948.1:c.*1037A>G	ENSP00000505441.1:n.*1037A>G
ENST00000680964.1:c.*263A>G	ENSP00000505961.1:n.*263A>G
ENST00000681037.1:c.*2654A>G	ENSP00000506025.1:n.*2654A>G
ENST00000681063.1:c.*439A>G	ENSP00000506616.1:n.*439A>G
ENST00000681209.1:c.*825A>G	ENSP00000505877.1:n.*825A>G
ENST00000681278.1:n.1872A>G
ENST00000681289.1:n.5165A>G
ENST00000681361.1:c.*837A>G	ENSP00000506679.1:n.*837A>G
ENST00000681430.1:c.*263A>G	ENSP00000506301.1:n.*263A>G
ENST00000681446.1:c.*874A>G	ENSP00000506244.1:n.*874A>G
ENST00000681450.1:c.*841A>G	ENSP00000505660.1:n.*841A>G
ENST00000681548.1:c.*756A>G	ENSP00000505275.1:n.*756A>G
ENST00000681616.1:c.*829A>G	ENSP00000505111.1:n.*829A>G
ENST00000681621.1:c.*754A>G	ENSP00000505770.1:n.*754A>G
ENST00000681680.1:n.3265A>G
ENST00000681720.1:c.*625A>G	ENSP00000505438.1:n.*625A>G
ENST00000681730.1:n.1392A>G
ENST00000681790.1:c.912A>G	ENSP00000505130.1:p.Leu304=
ENST00000681837.1:n.1786A>G
ENST00000681913.1:n.3416A>G
ENST00000681916.1:c.*938A>G	ENSP00000506477.1:n.*938A>G
ENST00000681930.1:n.3294A>G
ENST00000370834.9:c.1269A>G	ENSP00000359871.5:p.Leu423=
ENST00000370841.8:c.1170A>G	ENSP00000359878.4:p.Leu390=
ENST00000420607.6:c.1182A>G	ENSP00000409612.2:p.Leu394=
ENST00000481374.1:n.443A>G
ENST00000525808.5:c.*756A>G	ENSP00000434823.1:n.*756A>G
ENST00000526129.5:c.*954A>G	ENSP00000434092.1:n.*954A>G
ENST00000526196.5:c.*938A>G	ENSP00000431953.1:n.*938A>G
ENST00000528016.1:c.160-7831A>G	ENSP00000434284.1:n.160-7831A>G
ENST00000529059.5:n.1079A>G
ENST00000541113.5:c.1062A>G	ENSP00000442324.1:p.Leu354=
NM_000016.5:c.1170A>G	NP_000007.1:p.Leu390=
NM_001127328.2:c.1182A>G	NP_001120800.1:p.Leu394=
NM_001286042.1:c.1062A>G	NP_001272971.1:p.Leu354=
NM_001286043.1:c.1269A>G	NP_001272972.1:p.Leu423=
NM_001286044.1:c.603A>G	NP_001272973.1:p.Leu201=
NM_000016.6:c.1170A>G MANE Select	NP_000007.1:p.Leu390=
NM_001127328.3:c.1182A>G	NP_001120800.1:p.Leu394=
NM_001286042.2:c.1062A>G	NP_001272971.1:p.Leu354=
NM_001286043.2:c.1269A>G	NP_001272972.1:p.Leu423=
NM_001286044.2:c.603A>G	NP_001272973.1:p.Leu201=