Canonical Allele Identifier: CA418707810

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1544238
• ClinVar RCV Id: RCV002182284
• dbSNP Id: rs2100453854
• MyVariant Identifiers: chr1:g.76227037G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761352G>A , CM000663.2:g.75761352G>A	GRCh38
NC_000001.10:g.76227037G>A , CM000663.1:g.76227037G>A	GRCh37
NC_000001.9:g.75999625G>A	NCBI36
NG_007045.2:g.41995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1176G>A MANE Select	ENSP00000359878.5:p.Arg392=
ENST00000473018.3:n.3300G>A
ENST00000532207.6:n.2187G>A
ENST00000541113.6:c.1080G>A	ENSP00000442324.2:p.Arg360=
ENST00000679509.1:n.2138G>A
ENST00000679530.1:c.*944G>A	ENSP00000506454.1:n.*944G>A
ENST00000679615.1:n.3191G>A
ENST00000679687.1:c.738G>A	ENSP00000506598.1:p.Arg246=
ENST00000679704.1:c.*942G>A	ENSP00000505117.1:n.*942G>A
ENST00000679709.1:c.*1139G>A	ENSP00000506623.1:n.*1139G>A
ENST00000679976.1:c.*760G>A	ENSP00000505565.1:n.*760G>A
ENST00000680166.1:n.4465G>A
ENST00000680315.1:n.1059G>A
ENST00000680517.1:c.*564G>A	ENSP00000505803.1:n.*564G>A
ENST00000680582.1:n.2138G>A
ENST00000680613.1:c.*669G>A	ENSP00000506114.1:n.*669G>A
ENST00000680662.1:c.*1090G>A	ENSP00000505080.1:n.*1090G>A
ENST00000680691.1:c.*839G>A	ENSP00000506487.1:n.*839G>A
ENST00000680694.1:c.*764G>A	ENSP00000505658.1:n.*764G>A
ENST00000680743.1:c.*965G>A	ENSP00000505073.1:n.*965G>A
ENST00000680749.1:c.*461G>A	ENSP00000505122.1:n.*461G>A
ENST00000680798.1:c.*651G>A	ENSP00000505670.1:n.*651G>A
ENST00000680805.1:c.1035G>A	ENSP00000505447.1:p.Arg345=
ENST00000680844.1:c.*960G>A	ENSP00000506541.1:n.*960G>A
ENST00000680948.1:c.*1043G>A	ENSP00000505441.1:n.*1043G>A
ENST00000680964.1:c.*269G>A	ENSP00000505961.1:n.*269G>A
ENST00000681037.1:c.*2660G>A	ENSP00000506025.1:n.*2660G>A
ENST00000681063.1:c.*445G>A	ENSP00000506616.1:n.*445G>A
ENST00000681209.1:c.*831G>A	ENSP00000505877.1:n.*831G>A
ENST00000681278.1:n.1878G>A
ENST00000681289.1:n.5171G>A
ENST00000681361.1:c.*843G>A	ENSP00000506679.1:n.*843G>A
ENST00000681430.1:c.*269G>A	ENSP00000506301.1:n.*269G>A
ENST00000681446.1:c.*880G>A	ENSP00000506244.1:n.*880G>A
ENST00000681450.1:c.*847G>A	ENSP00000505660.1:n.*847G>A
ENST00000681548.1:c.*762G>A	ENSP00000505275.1:n.*762G>A
ENST00000681616.1:c.*835G>A	ENSP00000505111.1:n.*835G>A
ENST00000681621.1:c.*760G>A	ENSP00000505770.1:n.*760G>A
ENST00000681680.1:n.3271G>A
ENST00000681720.1:c.*631G>A	ENSP00000505438.1:n.*631G>A
ENST00000681730.1:n.1398G>A
ENST00000681790.1:c.918G>A	ENSP00000505130.1:p.Arg306=
ENST00000681837.1:n.1792G>A
ENST00000681913.1:n.3422G>A
ENST00000681916.1:c.*944G>A	ENSP00000506477.1:n.*944G>A
ENST00000681930.1:n.3300G>A
ENST00000370834.9:c.1275G>A	ENSP00000359871.5:p.Arg425=
ENST00000370841.8:c.1176G>A	ENSP00000359878.4:p.Arg392=
ENST00000420607.6:c.1188G>A	ENSP00000409612.2:p.Arg396=
ENST00000481374.1:n.449G>A
ENST00000525808.5:c.*762G>A	ENSP00000434823.1:n.*762G>A
ENST00000526129.5:c.*960G>A	ENSP00000434092.1:n.*960G>A
ENST00000526196.5:c.*944G>A	ENSP00000431953.1:n.*944G>A
ENST00000528016.1:c.160-7825G>A	ENSP00000434284.1:n.160-7825G>A
ENST00000529059.5:n.1085G>A
ENST00000541113.5:c.1068G>A	ENSP00000442324.1:p.Arg356=
NM_000016.5:c.1176G>A	NP_000007.1:p.Arg392=
NM_001127328.2:c.1188G>A	NP_001120800.1:p.Arg396=
NM_001286042.1:c.1068G>A	NP_001272971.1:p.Arg356=
NM_001286043.1:c.1275G>A	NP_001272972.1:p.Arg425=
NM_001286044.1:c.609G>A	NP_001272973.1:p.Arg203=
NM_000016.6:c.1176G>A MANE Select	NP_000007.1:p.Arg392=
NM_001127328.3:c.1188G>A	NP_001120800.1:p.Arg396=
NM_001286042.2:c.1068G>A	NP_001272971.1:p.Arg356=
NM_001286043.2:c.1275G>A	NP_001272972.1:p.Arg425=
NM_001286044.2:c.609G>A	NP_001272973.1:p.Arg203=