Canonical Allele Identifier: CA340818172

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226963T>A (hg19) ; chr1:g.75761278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761278T>A , CM000663.2:g.75761278T>A	GRCh38
NC_000001.10:g.76226963T>A , CM000663.1:g.76226963T>A	GRCh37
NC_000001.9:g.75999551T>A	NCBI36
NG_007045.2:g.41921T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1102T>A MANE Select	ENSP00000359878.5:p.Leu368Ile
ENST00000473018.3:n.3226T>A
ENST00000532207.6:n.2113T>A
ENST00000541113.6:c.1006T>A	ENSP00000442324.2:p.Leu336Ile
ENST00000679509.1:n.2064T>A
ENST00000679530.1:c.*870T>A	ENSP00000506454.1:n.*870T>A
ENST00000679615.1:n.3117T>A
ENST00000679687.1:c.664T>A	ENSP00000506598.1:p.Leu222Ile
ENST00000679704.1:c.*868T>A	ENSP00000505117.1:n.*868T>A
ENST00000679709.1:c.*1065T>A	ENSP00000506623.1:n.*1065T>A
ENST00000679976.1:c.*686T>A	ENSP00000505565.1:n.*686T>A
ENST00000680166.1:n.4391T>A
ENST00000680315.1:n.985T>A
ENST00000680517.1:c.*490T>A	ENSP00000505803.1:n.*490T>A
ENST00000680582.1:n.2064T>A
ENST00000680613.1:c.*595T>A	ENSP00000506114.1:n.*595T>A
ENST00000680662.1:c.*1016T>A	ENSP00000505080.1:n.*1016T>A
ENST00000680691.1:c.*765T>A	ENSP00000506487.1:n.*765T>A
ENST00000680694.1:c.*690T>A	ENSP00000505658.1:n.*690T>A
ENST00000680743.1:c.*891T>A	ENSP00000505073.1:n.*891T>A
ENST00000680749.1:c.*387T>A	ENSP00000505122.1:n.*387T>A
ENST00000680798.1:c.*577T>A	ENSP00000505670.1:n.*577T>A
ENST00000680805.1:c.961T>A	ENSP00000505447.1:p.Leu321Ile
ENST00000680844.1:c.*886T>A	ENSP00000506541.1:n.*886T>A
ENST00000680948.1:c.*969T>A	ENSP00000505441.1:n.*969T>A
ENST00000680964.1:c.*195T>A	ENSP00000505961.1:n.*195T>A
ENST00000681037.1:c.*2586T>A	ENSP00000506025.1:n.*2586T>A
ENST00000681063.1:c.*371T>A	ENSP00000506616.1:n.*371T>A
ENST00000681209.1:c.*757T>A	ENSP00000505877.1:n.*757T>A
ENST00000681278.1:n.1804T>A
ENST00000681289.1:n.5097T>A
ENST00000681361.1:c.*769T>A	ENSP00000506679.1:n.*769T>A
ENST00000681430.1:c.*195T>A	ENSP00000506301.1:n.*195T>A
ENST00000681446.1:c.*806T>A	ENSP00000506244.1:n.*806T>A
ENST00000681450.1:c.*773T>A	ENSP00000505660.1:n.*773T>A
ENST00000681548.1:c.*688T>A	ENSP00000505275.1:n.*688T>A
ENST00000681616.1:c.*761T>A	ENSP00000505111.1:n.*761T>A
ENST00000681621.1:c.*686T>A	ENSP00000505770.1:n.*686T>A
ENST00000681680.1:n.3197T>A
ENST00000681720.1:c.*557T>A	ENSP00000505438.1:n.*557T>A
ENST00000681730.1:n.1324T>A
ENST00000681790.1:c.844T>A	ENSP00000505130.1:p.Leu282Ile
ENST00000681837.1:n.1718T>A
ENST00000681913.1:n.3348T>A
ENST00000681916.1:c.*870T>A	ENSP00000506477.1:n.*870T>A
ENST00000681930.1:n.3226T>A
ENST00000370834.9:c.1201T>A	ENSP00000359871.5:p.Leu401Ile
ENST00000370841.8:c.1102T>A	ENSP00000359878.4:p.Leu368Ile
ENST00000420607.6:c.1114T>A	ENSP00000409612.2:p.Leu372Ile
ENST00000481374.1:n.375T>A
ENST00000525808.5:c.*688T>A	ENSP00000434823.1:n.*688T>A
ENST00000526129.5:c.*886T>A	ENSP00000434092.1:n.*886T>A
ENST00000526196.5:c.*870T>A	ENSP00000431953.1:n.*870T>A
ENST00000528016.1:c.160-7899T>A	ENSP00000434284.1:n.160-7899T>A
ENST00000529059.5:n.1011T>A
ENST00000541113.5:c.994T>A	ENSP00000442324.1:p.Leu332Ile
NM_000016.5:c.1102T>A	NP_000007.1:p.Leu368Ile
NM_001127328.2:c.1114T>A	NP_001120800.1:p.Leu372Ile
NM_001286042.1:c.994T>A	NP_001272971.1:p.Leu332Ile
NM_001286043.1:c.1201T>A	NP_001272972.1:p.Leu401Ile
NM_001286044.1:c.535T>A	NP_001272973.1:p.Leu179Ile
NM_000016.6:c.1102T>A MANE Select	NP_000007.1:p.Leu368Ile
NM_001127328.3:c.1114T>A	NP_001120800.1:p.Leu372Ile
NM_001286042.2:c.994T>A	NP_001272971.1:p.Leu332Ile
NM_001286043.2:c.1201T>A	NP_001272972.1:p.Leu401Ile
NM_001286044.2:c.535T>A	NP_001272973.1:p.Leu179Ile