Canonical Allele Identifier: CA24609250

Gene: ACADM

Linked Data

• ClinVar Variation Id: 553696
• ClinVar RCV Id: RCV000669203
• dbSNP Id: rs988752772
• gnomAD v3: 1-75761249-A-T
• gnomAD v4: 1-75761249-A-T
• MyVariant Identifiers: chr1:g.76226934A>T (hg19) ; chr1:g.75761249A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761249A>T , CM000663.2:g.75761249A>T	GRCh38
NC_000001.10:g.76226934A>T , CM000663.1:g.76226934A>T	GRCh37
NC_000001.9:g.75999522A>T	NCBI36
NG_007045.2:g.41892A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1073A>T MANE Select	ENSP00000359878.5:p.Lys358Met
ENST00000473018.3:n.3197A>T
ENST00000532207.6:n.2084A>T
ENST00000541113.6:c.977A>T	ENSP00000442324.2:p.Lys326Met
ENST00000679509.1:n.2035A>T
ENST00000679530.1:c.*841A>T	ENSP00000506454.1:n.*841A>T
ENST00000679615.1:n.3088A>T
ENST00000679687.1:c.635A>T	ENSP00000506598.1:p.Lys212Met
ENST00000679704.1:c.*839A>T	ENSP00000505117.1:n.*839A>T
ENST00000679709.1:c.*1036A>T	ENSP00000506623.1:n.*1036A>T
ENST00000679976.1:c.*657A>T	ENSP00000505565.1:n.*657A>T
ENST00000680166.1:n.4362A>T
ENST00000680315.1:n.956A>T
ENST00000680517.1:c.*461A>T	ENSP00000505803.1:n.*461A>T
ENST00000680582.1:n.2035A>T
ENST00000680613.1:c.*566A>T	ENSP00000506114.1:n.*566A>T
ENST00000680662.1:c.*987A>T	ENSP00000505080.1:n.*987A>T
ENST00000680691.1:c.*736A>T	ENSP00000506487.1:n.*736A>T
ENST00000680694.1:c.*661A>T	ENSP00000505658.1:n.*661A>T
ENST00000680743.1:c.*862A>T	ENSP00000505073.1:n.*862A>T
ENST00000680749.1:c.*358A>T	ENSP00000505122.1:n.*358A>T
ENST00000680798.1:c.*548A>T	ENSP00000505670.1:n.*548A>T
ENST00000680805.1:c.932A>T	ENSP00000505447.1:p.Lys311Met
ENST00000680844.1:c.*857A>T	ENSP00000506541.1:n.*857A>T
ENST00000680948.1:c.*940A>T	ENSP00000505441.1:n.*940A>T
ENST00000680964.1:c.*166A>T	ENSP00000505961.1:n.*166A>T
ENST00000681037.1:c.*2557A>T	ENSP00000506025.1:n.*2557A>T
ENST00000681063.1:c.*342A>T	ENSP00000506616.1:n.*342A>T
ENST00000681209.1:c.*728A>T	ENSP00000505877.1:n.*728A>T
ENST00000681278.1:n.1775A>T
ENST00000681289.1:n.5068A>T
ENST00000681361.1:c.*740A>T	ENSP00000506679.1:n.*740A>T
ENST00000681430.1:c.*166A>T	ENSP00000506301.1:n.*166A>T
ENST00000681446.1:c.*777A>T	ENSP00000506244.1:n.*777A>T
ENST00000681450.1:c.*744A>T	ENSP00000505660.1:n.*744A>T
ENST00000681548.1:c.*659A>T	ENSP00000505275.1:n.*659A>T
ENST00000681616.1:c.*732A>T	ENSP00000505111.1:n.*732A>T
ENST00000681621.1:c.*657A>T	ENSP00000505770.1:n.*657A>T
ENST00000681680.1:n.3168A>T
ENST00000681720.1:c.*528A>T	ENSP00000505438.1:n.*528A>T
ENST00000681730.1:n.1295A>T
ENST00000681790.1:c.815A>T	ENSP00000505130.1:p.Lys272Met
ENST00000681837.1:n.1689A>T
ENST00000681913.1:n.3319A>T
ENST00000681916.1:c.*841A>T	ENSP00000506477.1:n.*841A>T
ENST00000681930.1:n.3197A>T
ENST00000370834.9:c.1172A>T	ENSP00000359871.5:p.Lys391Met
ENST00000370841.8:c.1073A>T	ENSP00000359878.4:p.Lys358Met
ENST00000420607.6:c.1085A>T	ENSP00000409612.2:p.Lys362Met
ENST00000481374.1:n.346A>T
ENST00000525808.5:c.*659A>T	ENSP00000434823.1:n.*659A>T
ENST00000526129.5:c.*857A>T	ENSP00000434092.1:n.*857A>T
ENST00000526196.5:c.*841A>T	ENSP00000431953.1:n.*841A>T
ENST00000528016.1:c.160-7928A>T	ENSP00000434284.1:n.160-7928A>T
ENST00000529059.5:n.982A>T
ENST00000541113.5:c.965A>T	ENSP00000442324.1:p.Lys322Met
NM_000016.5:c.1073A>T	NP_000007.1:p.Lys358Met
NM_001127328.2:c.1085A>T	NP_001120800.1:p.Lys362Met
NM_001286042.1:c.965A>T	NP_001272971.1:p.Lys322Met
NM_001286043.1:c.1172A>T	NP_001272972.1:p.Lys391Met
NM_001286044.1:c.506A>T	NP_001272973.1:p.Lys169Met
NM_000016.6:c.1073A>T MANE Select	NP_000007.1:p.Lys358Met
NM_001127328.3:c.1085A>T	NP_001120800.1:p.Lys362Met
NM_001286042.2:c.965A>T	NP_001272971.1:p.Lys322Met
NM_001286043.2:c.1172A>T	NP_001272972.1:p.Lys391Met
NM_001286044.2:c.506A>T	NP_001272973.1:p.Lys169Met