Canonical Allele Identifier: CA16040783

Gene: ACADM

Linked Data

• ClinVar Variation Id: 370434
• ClinVar RCV Id: RCV000409156 ; RCV003401383
• dbSNP Id: rs1057516485
• MyVariant Identifiers: chr1:g.76226820C>A (hg19) ; chr1:g.75761135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761135C>A , CM000663.2:g.75761135C>A	GRCh38
NC_000001.10:g.76226820C>A , CM000663.1:g.76226820C>A	GRCh37
NC_000001.9:g.75999408C>A	NCBI36
NG_007045.2:g.41778C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.959C>A MANE Select	ENSP00000359878.5:p.Ser320Ter
ENST00000473018.3:n.3083C>A
ENST00000532207.6:n.1970C>A
ENST00000541113.6:c.863C>A	ENSP00000442324.2:p.Ser288Ter
ENST00000679509.1:n.1921C>A
ENST00000679530.1:c.*727C>A	ENSP00000506454.1:n.*727C>A
ENST00000679615.1:n.2974C>A
ENST00000679687.1:c.521C>A	ENSP00000506598.1:p.Ser174Ter
ENST00000679704.1:c.*725C>A	ENSP00000505117.1:n.*725C>A
ENST00000679709.1:c.*922C>A	ENSP00000506623.1:n.*922C>A
ENST00000679976.1:c.*543C>A	ENSP00000505565.1:n.*543C>A
ENST00000680166.1:n.4248C>A
ENST00000680315.1:n.842C>A
ENST00000680517.1:c.*347C>A	ENSP00000505803.1:n.*347C>A
ENST00000680582.1:n.1921C>A
ENST00000680613.1:c.*452C>A	ENSP00000506114.1:n.*452C>A
ENST00000680662.1:c.*873C>A	ENSP00000505080.1:n.*873C>A
ENST00000680691.1:c.*622C>A	ENSP00000506487.1:n.*622C>A
ENST00000680694.1:c.*547C>A	ENSP00000505658.1:n.*547C>A
ENST00000680743.1:c.*748C>A	ENSP00000505073.1:n.*748C>A
ENST00000680749.1:c.*244C>A	ENSP00000505122.1:n.*244C>A
ENST00000680798.1:c.*434C>A	ENSP00000505670.1:n.*434C>A
ENST00000680805.1:c.818C>A	ENSP00000505447.1:p.Ser273Ter
ENST00000680844.1:c.*743C>A	ENSP00000506541.1:n.*743C>A
ENST00000680948.1:c.*826C>A	ENSP00000505441.1:n.*826C>A
ENST00000680964.1:c.*52C>A	ENSP00000505961.1:n.*52C>A
ENST00000681037.1:c.*2443C>A	ENSP00000506025.1:n.*2443C>A
ENST00000681063.1:c.*228C>A	ENSP00000506616.1:n.*228C>A
ENST00000681209.1:c.*614C>A	ENSP00000505877.1:n.*614C>A
ENST00000681278.1:n.1661C>A
ENST00000681289.1:n.4954C>A
ENST00000681361.1:c.*626C>A	ENSP00000506679.1:n.*626C>A
ENST00000681430.1:c.*52C>A	ENSP00000506301.1:n.*52C>A
ENST00000681446.1:c.*663C>A	ENSP00000506244.1:n.*663C>A
ENST00000681450.1:c.*630C>A	ENSP00000505660.1:n.*630C>A
ENST00000681548.1:c.*545C>A	ENSP00000505275.1:n.*545C>A
ENST00000681616.1:c.*618C>A	ENSP00000505111.1:n.*618C>A
ENST00000681621.1:c.*543C>A	ENSP00000505770.1:n.*543C>A
ENST00000681680.1:n.3054C>A
ENST00000681720.1:c.*414C>A	ENSP00000505438.1:n.*414C>A
ENST00000681730.1:n.1181C>A
ENST00000681790.1:c.701C>A	ENSP00000505130.1:p.Ser234Ter
ENST00000681837.1:n.1575C>A
ENST00000681913.1:n.3205C>A
ENST00000681916.1:c.*727C>A	ENSP00000506477.1:n.*727C>A
ENST00000681930.1:n.3083C>A
ENST00000370834.9:c.1058C>A	ENSP00000359871.5:p.Ser353Ter
ENST00000370841.8:c.959C>A	ENSP00000359878.4:p.Ser320Ter
ENST00000420607.6:c.971C>A	ENSP00000409612.2:p.Ser324Ter
ENST00000481374.1:n.232C>A
ENST00000525808.5:c.*545C>A	ENSP00000434823.1:n.*545C>A
ENST00000526129.5:c.*743C>A	ENSP00000434092.1:n.*743C>A
ENST00000526196.5:c.*727C>A	ENSP00000431953.1:n.*727C>A
ENST00000528016.1:c.160-8042C>A	ENSP00000434284.1:n.160-8042C>A
ENST00000529059.5:n.868C>A
ENST00000532207.5:n.689C>A
ENST00000534334.5:c.*700C>A	ENSP00000435584.1:n.*700C>A
ENST00000541113.5:c.851C>A	ENSP00000442324.1:p.Ser284Ter
NM_000016.5:c.959C>A	NP_000007.1:p.Ser320Ter
NM_001127328.2:c.971C>A	NP_001120800.1:p.Ser324Ter
NM_001286042.1:c.851C>A	NP_001272971.1:p.Ser284Ter
NM_001286043.1:c.1058C>A	NP_001272972.1:p.Ser353Ter
NM_001286044.1:c.392C>A	NP_001272973.1:p.Ser131Ter
NM_000016.6:c.959C>A MANE Select	NP_000007.1:p.Ser320Ter
NM_001127328.3:c.971C>A	NP_001120800.1:p.Ser324Ter
NM_001286042.2:c.851C>A	NP_001272971.1:p.Ser284Ter
NM_001286043.2:c.1058C>A	NP_001272972.1:p.Ser353Ter
NM_001286044.2:c.392C>A	NP_001272973.1:p.Ser131Ter