Canonical Allele Identifier: CA913275

Gene: ACADM

Linked Data

• dbSNP Id: rs757426112
• ExAC: 1:76226975 G / A
• gnomAD v2: 1-76226975-G-A
• MyVariant Identifiers: chr1:g.76226975G>A (hg19) ; chr1:g.75761290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761290G>A , CM000663.2:g.75761290G>A	GRCh38
NC_000001.10:g.76226975G>A , CM000663.1:g.76226975G>A	GRCh37
NC_000001.9:g.75999563G>A	NCBI36
NG_007045.2:g.41933G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1114G>A MANE Select	ENSP00000359878.5:p.Ala372Thr
ENST00000473018.3:n.3238G>A
ENST00000532207.6:n.2125G>A
ENST00000541113.6:c.1018G>A	ENSP00000442324.2:p.Ala340Thr
ENST00000679509.1:n.2076G>A
ENST00000679530.1:c.*882G>A	ENSP00000506454.1:n.*882G>A
ENST00000679615.1:n.3129G>A
ENST00000679687.1:c.676G>A	ENSP00000506598.1:p.Ala226Thr
ENST00000679704.1:c.*880G>A	ENSP00000505117.1:n.*880G>A
ENST00000679709.1:c.*1077G>A	ENSP00000506623.1:n.*1077G>A
ENST00000679976.1:c.*698G>A	ENSP00000505565.1:n.*698G>A
ENST00000680166.1:n.4403G>A
ENST00000680315.1:n.997G>A
ENST00000680517.1:c.*502G>A	ENSP00000505803.1:n.*502G>A
ENST00000680582.1:n.2076G>A
ENST00000680613.1:c.*607G>A	ENSP00000506114.1:n.*607G>A
ENST00000680662.1:c.*1028G>A	ENSP00000505080.1:n.*1028G>A
ENST00000680691.1:c.*777G>A	ENSP00000506487.1:n.*777G>A
ENST00000680694.1:c.*702G>A	ENSP00000505658.1:n.*702G>A
ENST00000680743.1:c.*903G>A	ENSP00000505073.1:n.*903G>A
ENST00000680749.1:c.*399G>A	ENSP00000505122.1:n.*399G>A
ENST00000680798.1:c.*589G>A	ENSP00000505670.1:n.*589G>A
ENST00000680805.1:c.973G>A	ENSP00000505447.1:p.Ala325Thr
ENST00000680844.1:c.*898G>A	ENSP00000506541.1:n.*898G>A
ENST00000680948.1:c.*981G>A	ENSP00000505441.1:n.*981G>A
ENST00000680964.1:c.*207G>A	ENSP00000505961.1:n.*207G>A
ENST00000681037.1:c.*2598G>A	ENSP00000506025.1:n.*2598G>A
ENST00000681063.1:c.*383G>A	ENSP00000506616.1:n.*383G>A
ENST00000681209.1:c.*769G>A	ENSP00000505877.1:n.*769G>A
ENST00000681278.1:n.1816G>A
ENST00000681289.1:n.5109G>A
ENST00000681361.1:c.*781G>A	ENSP00000506679.1:n.*781G>A
ENST00000681430.1:c.*207G>A	ENSP00000506301.1:n.*207G>A
ENST00000681446.1:c.*818G>A	ENSP00000506244.1:n.*818G>A
ENST00000681450.1:c.*785G>A	ENSP00000505660.1:n.*785G>A
ENST00000681548.1:c.*700G>A	ENSP00000505275.1:n.*700G>A
ENST00000681616.1:c.*773G>A	ENSP00000505111.1:n.*773G>A
ENST00000681621.1:c.*698G>A	ENSP00000505770.1:n.*698G>A
ENST00000681680.1:n.3209G>A
ENST00000681720.1:c.*569G>A	ENSP00000505438.1:n.*569G>A
ENST00000681730.1:n.1336G>A
ENST00000681790.1:c.856G>A	ENSP00000505130.1:p.Ala286Thr
ENST00000681837.1:n.1730G>A
ENST00000681913.1:n.3360G>A
ENST00000681916.1:c.*882G>A	ENSP00000506477.1:n.*882G>A
ENST00000681930.1:n.3238G>A
ENST00000370834.9:c.1213G>A	ENSP00000359871.5:p.Ala405Thr
ENST00000370841.8:c.1114G>A	ENSP00000359878.4:p.Ala372Thr
ENST00000420607.6:c.1126G>A	ENSP00000409612.2:p.Ala376Thr
ENST00000481374.1:n.387G>A
ENST00000525808.5:c.*700G>A	ENSP00000434823.1:n.*700G>A
ENST00000526129.5:c.*898G>A	ENSP00000434092.1:n.*898G>A
ENST00000526196.5:c.*882G>A	ENSP00000431953.1:n.*882G>A
ENST00000528016.1:c.160-7887G>A	ENSP00000434284.1:n.160-7887G>A
ENST00000529059.5:n.1023G>A
ENST00000541113.5:c.1006G>A	ENSP00000442324.1:p.Ala336Thr
NM_000016.5:c.1114G>A	NP_000007.1:p.Ala372Thr
NM_001127328.2:c.1126G>A	NP_001120800.1:p.Ala376Thr
NM_001286042.1:c.1006G>A	NP_001272971.1:p.Ala336Thr
NM_001286043.1:c.1213G>A	NP_001272972.1:p.Ala405Thr
NM_001286044.1:c.547G>A	NP_001272973.1:p.Ala183Thr
NM_000016.6:c.1114G>A MANE Select	NP_000007.1:p.Ala372Thr
NM_001127328.3:c.1126G>A	NP_001120800.1:p.Ala376Thr
NM_001286042.2:c.1006G>A	NP_001272971.1:p.Ala336Thr
NM_001286043.2:c.1213G>A	NP_001272972.1:p.Ala405Thr
NM_001286044.2:c.547G>A	NP_001272973.1:p.Ala183Thr