Canonical Allele Identifier: CA340818251

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227002T>A (hg19) ; chr1:g.75761317T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761317T>A , CM000663.2:g.75761317T>A	GRCh38
NC_000001.10:g.76227002T>A , CM000663.1:g.76227002T>A	GRCh37
NC_000001.9:g.75999590T>A	NCBI36
NG_007045.2:g.41960T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1141T>A MANE Select	ENSP00000359878.5:p.Phe381Ile
ENST00000473018.3:n.3265T>A
ENST00000532207.6:n.2152T>A
ENST00000541113.6:c.1045T>A	ENSP00000442324.2:p.Phe349Ile
ENST00000679509.1:n.2103T>A
ENST00000679530.1:c.*909T>A	ENSP00000506454.1:n.*909T>A
ENST00000679615.1:n.3156T>A
ENST00000679687.1:c.703T>A	ENSP00000506598.1:p.Phe235Ile
ENST00000679704.1:c.*907T>A	ENSP00000505117.1:n.*907T>A
ENST00000679709.1:c.*1104T>A	ENSP00000506623.1:n.*1104T>A
ENST00000679976.1:c.*725T>A	ENSP00000505565.1:n.*725T>A
ENST00000680166.1:n.4430T>A
ENST00000680315.1:n.1024T>A
ENST00000680517.1:c.*529T>A	ENSP00000505803.1:n.*529T>A
ENST00000680582.1:n.2103T>A
ENST00000680613.1:c.*634T>A	ENSP00000506114.1:n.*634T>A
ENST00000680662.1:c.*1055T>A	ENSP00000505080.1:n.*1055T>A
ENST00000680691.1:c.*804T>A	ENSP00000506487.1:n.*804T>A
ENST00000680694.1:c.*729T>A	ENSP00000505658.1:n.*729T>A
ENST00000680743.1:c.*930T>A	ENSP00000505073.1:n.*930T>A
ENST00000680749.1:c.*426T>A	ENSP00000505122.1:n.*426T>A
ENST00000680798.1:c.*616T>A	ENSP00000505670.1:n.*616T>A
ENST00000680805.1:c.1000T>A	ENSP00000505447.1:p.Phe334Ile
ENST00000680844.1:c.*925T>A	ENSP00000506541.1:n.*925T>A
ENST00000680948.1:c.*1008T>A	ENSP00000505441.1:n.*1008T>A
ENST00000680964.1:c.*234T>A	ENSP00000505961.1:n.*234T>A
ENST00000681037.1:c.*2625T>A	ENSP00000506025.1:n.*2625T>A
ENST00000681063.1:c.*410T>A	ENSP00000506616.1:n.*410T>A
ENST00000681209.1:c.*796T>A	ENSP00000505877.1:n.*796T>A
ENST00000681278.1:n.1843T>A
ENST00000681289.1:n.5136T>A
ENST00000681361.1:c.*808T>A	ENSP00000506679.1:n.*808T>A
ENST00000681430.1:c.*234T>A	ENSP00000506301.1:n.*234T>A
ENST00000681446.1:c.*845T>A	ENSP00000506244.1:n.*845T>A
ENST00000681450.1:c.*812T>A	ENSP00000505660.1:n.*812T>A
ENST00000681548.1:c.*727T>A	ENSP00000505275.1:n.*727T>A
ENST00000681616.1:c.*800T>A	ENSP00000505111.1:n.*800T>A
ENST00000681621.1:c.*725T>A	ENSP00000505770.1:n.*725T>A
ENST00000681680.1:n.3236T>A
ENST00000681720.1:c.*596T>A	ENSP00000505438.1:n.*596T>A
ENST00000681730.1:n.1363T>A
ENST00000681790.1:c.883T>A	ENSP00000505130.1:p.Phe295Ile
ENST00000681837.1:n.1757T>A
ENST00000681913.1:n.3387T>A
ENST00000681916.1:c.*909T>A	ENSP00000506477.1:n.*909T>A
ENST00000681930.1:n.3265T>A
ENST00000370834.9:c.1240T>A	ENSP00000359871.5:p.Phe414Ile
ENST00000370841.8:c.1141T>A	ENSP00000359878.4:p.Phe381Ile
ENST00000420607.6:c.1153T>A	ENSP00000409612.2:p.Phe385Ile
ENST00000481374.1:n.414T>A
ENST00000525808.5:c.*727T>A	ENSP00000434823.1:n.*727T>A
ENST00000526129.5:c.*925T>A	ENSP00000434092.1:n.*925T>A
ENST00000526196.5:c.*909T>A	ENSP00000431953.1:n.*909T>A
ENST00000528016.1:c.160-7860T>A	ENSP00000434284.1:n.160-7860T>A
ENST00000529059.5:n.1050T>A
ENST00000541113.5:c.1033T>A	ENSP00000442324.1:p.Phe345Ile
NM_000016.5:c.1141T>A	NP_000007.1:p.Phe381Ile
NM_001127328.2:c.1153T>A	NP_001120800.1:p.Phe385Ile
NM_001286042.1:c.1033T>A	NP_001272971.1:p.Phe345Ile
NM_001286043.1:c.1240T>A	NP_001272972.1:p.Phe414Ile
NM_001286044.1:c.574T>A	NP_001272973.1:p.Phe192Ile
NM_000016.6:c.1141T>A MANE Select	NP_000007.1:p.Phe381Ile
NM_001127328.3:c.1153T>A	NP_001120800.1:p.Phe385Ile
NM_001286042.2:c.1033T>A	NP_001272971.1:p.Phe345Ile
NM_001286043.2:c.1240T>A	NP_001272972.1:p.Phe414Ile
NM_001286044.2:c.574T>A	NP_001272973.1:p.Phe192Ile