Canonical Allele Identifier: CA913262

Gene: ACADM

Linked Data

• ClinVar Variation Id: 298072
• ClinVar RCV Id: RCV000306099 ; RCV000727060 ; RCV002379168
• dbSNP Id: rs138098371
• ExAC: 1:76226855 C / T
• gnomAD v2: 1-76226855-C-T
• gnomAD v3: 1-75761170-C-T
• gnomAD v4: 1-75761170-C-T
• MyVariant Identifiers: chr1:g.76226855C>T (hg19) ; chr1:g.75761170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761170C>T , CM000663.2:g.75761170C>T	GRCh38
NC_000001.10:g.76226855C>T , CM000663.1:g.76226855C>T	GRCh37
NC_000001.9:g.75999443C>T	NCBI36
NG_007045.2:g.41813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.994C>T MANE Select	ENSP00000359878.5:p.Leu332=
ENST00000473018.3:n.3118C>T
ENST00000532207.6:n.2005C>T
ENST00000541113.6:c.898C>T	ENSP00000442324.2:p.Leu300=
ENST00000679509.1:n.1956C>T
ENST00000679530.1:c.*762C>T	ENSP00000506454.1:n.*762C>T
ENST00000679615.1:n.3009C>T
ENST00000679687.1:c.556C>T	ENSP00000506598.1:p.Leu186=
ENST00000679704.1:c.*760C>T	ENSP00000505117.1:n.*760C>T
ENST00000679709.1:c.*957C>T	ENSP00000506623.1:n.*957C>T
ENST00000679976.1:c.*578C>T	ENSP00000505565.1:n.*578C>T
ENST00000680166.1:n.4283C>T
ENST00000680315.1:n.877C>T
ENST00000680517.1:c.*382C>T	ENSP00000505803.1:n.*382C>T
ENST00000680582.1:n.1956C>T
ENST00000680613.1:c.*487C>T	ENSP00000506114.1:n.*487C>T
ENST00000680662.1:c.*908C>T	ENSP00000505080.1:n.*908C>T
ENST00000680691.1:c.*657C>T	ENSP00000506487.1:n.*657C>T
ENST00000680694.1:c.*582C>T	ENSP00000505658.1:n.*582C>T
ENST00000680743.1:c.*783C>T	ENSP00000505073.1:n.*783C>T
ENST00000680749.1:c.*279C>T	ENSP00000505122.1:n.*279C>T
ENST00000680798.1:c.*469C>T	ENSP00000505670.1:n.*469C>T
ENST00000680805.1:c.853C>T	ENSP00000505447.1:p.Leu285=
ENST00000680844.1:c.*778C>T	ENSP00000506541.1:n.*778C>T
ENST00000680948.1:c.*861C>T	ENSP00000505441.1:n.*861C>T
ENST00000680964.1:c.*87C>T	ENSP00000505961.1:n.*87C>T
ENST00000681037.1:c.*2478C>T	ENSP00000506025.1:n.*2478C>T
ENST00000681063.1:c.*263C>T	ENSP00000506616.1:n.*263C>T
ENST00000681209.1:c.*649C>T	ENSP00000505877.1:n.*649C>T
ENST00000681278.1:n.1696C>T
ENST00000681289.1:n.4989C>T
ENST00000681361.1:c.*661C>T	ENSP00000506679.1:n.*661C>T
ENST00000681430.1:c.*87C>T	ENSP00000506301.1:n.*87C>T
ENST00000681446.1:c.*698C>T	ENSP00000506244.1:n.*698C>T
ENST00000681450.1:c.*665C>T	ENSP00000505660.1:n.*665C>T
ENST00000681548.1:c.*580C>T	ENSP00000505275.1:n.*580C>T
ENST00000681616.1:c.*653C>T	ENSP00000505111.1:n.*653C>T
ENST00000681621.1:c.*578C>T	ENSP00000505770.1:n.*578C>T
ENST00000681680.1:n.3089C>T
ENST00000681720.1:c.*449C>T	ENSP00000505438.1:n.*449C>T
ENST00000681730.1:n.1216C>T
ENST00000681790.1:c.736C>T	ENSP00000505130.1:p.Leu246=
ENST00000681837.1:n.1610C>T
ENST00000681913.1:n.3240C>T
ENST00000681916.1:c.*762C>T	ENSP00000506477.1:n.*762C>T
ENST00000681930.1:n.3118C>T
ENST00000370834.9:c.1093C>T	ENSP00000359871.5:p.Leu365=
ENST00000370841.8:c.994C>T	ENSP00000359878.4:p.Leu332=
ENST00000420607.6:c.1006C>T	ENSP00000409612.2:p.Leu336=
ENST00000481374.1:n.267C>T
ENST00000525808.5:c.*580C>T	ENSP00000434823.1:n.*580C>T
ENST00000526129.5:c.*778C>T	ENSP00000434092.1:n.*778C>T
ENST00000526196.5:c.*762C>T	ENSP00000431953.1:n.*762C>T
ENST00000528016.1:c.160-8007C>T	ENSP00000434284.1:n.160-8007C>T
ENST00000529059.5:n.903C>T
ENST00000532207.5:n.724C>T
ENST00000534334.5:c.*735C>T	ENSP00000435584.1:n.*735C>T
ENST00000541113.5:c.886C>T	ENSP00000442324.1:p.Leu296=
NM_000016.5:c.994C>T	NP_000007.1:p.Leu332=
NM_001127328.2:c.1006C>T	NP_001120800.1:p.Leu336=
NM_001286042.1:c.886C>T	NP_001272971.1:p.Leu296=
NM_001286043.1:c.1093C>T	NP_001272972.1:p.Leu365=
NM_001286044.1:c.427C>T	NP_001272973.1:p.Leu143=
NM_000016.6:c.994C>T MANE Select	NP_000007.1:p.Leu332=
NM_001127328.3:c.1006C>T	NP_001120800.1:p.Leu336=
NM_001286042.2:c.886C>T	NP_001272971.1:p.Leu296=
NM_001286043.2:c.1093C>T	NP_001272972.1:p.Leu365=
NM_001286044.2:c.427C>T	NP_001272973.1:p.Leu143=