Canonical Allele Identifier: CA10576245

Gene: ACADM

Linked Data

• ClinVar Variation Id: 226094
• ClinVar RCV Id: RCV000211495 ; RCV004525902
• dbSNP Id: rs776312173
• MyVariant Identifiers: chr1:g.76227045A>C (hg19) ; chr1:g.75761360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761360A>C , CM000663.2:g.75761360A>C	GRCh38
NC_000001.10:g.76227045A>C , CM000663.1:g.76227045A>C	GRCh37
NC_000001.9:g.75999633A>C	NCBI36
NG_007045.2:g.42003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1184A>C MANE Select	ENSP00000359878.5:p.Lys395Thr
ENST00000473018.3:n.3308A>C
ENST00000532207.6:n.2195A>C
ENST00000541113.6:c.1088A>C	ENSP00000442324.2:p.Lys363Thr
ENST00000679509.1:n.2146A>C
ENST00000679530.1:c.*952A>C	ENSP00000506454.1:n.*952A>C
ENST00000679615.1:n.3199A>C
ENST00000679687.1:c.746A>C	ENSP00000506598.1:p.Lys249Thr
ENST00000679704.1:c.*950A>C	ENSP00000505117.1:n.*950A>C
ENST00000679709.1:c.*1147A>C	ENSP00000506623.1:n.*1147A>C
ENST00000679976.1:c.*768A>C	ENSP00000505565.1:n.*768A>C
ENST00000680166.1:n.4473A>C
ENST00000680315.1:n.1067A>C
ENST00000680517.1:c.*572A>C	ENSP00000505803.1:n.*572A>C
ENST00000680582.1:n.2146A>C
ENST00000680613.1:c.*677A>C	ENSP00000506114.1:n.*677A>C
ENST00000680662.1:c.*1098A>C	ENSP00000505080.1:n.*1098A>C
ENST00000680691.1:c.*847A>C	ENSP00000506487.1:n.*847A>C
ENST00000680694.1:c.*772A>C	ENSP00000505658.1:n.*772A>C
ENST00000680743.1:c.*973A>C	ENSP00000505073.1:n.*973A>C
ENST00000680749.1:c.*469A>C	ENSP00000505122.1:n.*469A>C
ENST00000680798.1:c.*659A>C	ENSP00000505670.1:n.*659A>C
ENST00000680805.1:c.1043A>C	ENSP00000505447.1:p.Lys348Thr
ENST00000680844.1:c.*968A>C	ENSP00000506541.1:n.*968A>C
ENST00000680948.1:c.*1051A>C	ENSP00000505441.1:n.*1051A>C
ENST00000680964.1:c.*277A>C	ENSP00000505961.1:n.*277A>C
ENST00000681037.1:c.*2668A>C	ENSP00000506025.1:n.*2668A>C
ENST00000681063.1:c.*453A>C	ENSP00000506616.1:n.*453A>C
ENST00000681209.1:c.*839A>C	ENSP00000505877.1:n.*839A>C
ENST00000681278.1:n.1886A>C
ENST00000681289.1:n.5179A>C
ENST00000681361.1:c.*851A>C	ENSP00000506679.1:n.*851A>C
ENST00000681430.1:c.*277A>C	ENSP00000506301.1:n.*277A>C
ENST00000681446.1:c.*888A>C	ENSP00000506244.1:n.*888A>C
ENST00000681450.1:c.*855A>C	ENSP00000505660.1:n.*855A>C
ENST00000681548.1:c.*770A>C	ENSP00000505275.1:n.*770A>C
ENST00000681616.1:c.*843A>C	ENSP00000505111.1:n.*843A>C
ENST00000681621.1:c.*768A>C	ENSP00000505770.1:n.*768A>C
ENST00000681680.1:n.3279A>C
ENST00000681720.1:c.*639A>C	ENSP00000505438.1:n.*639A>C
ENST00000681730.1:n.1406A>C
ENST00000681790.1:c.926A>C	ENSP00000505130.1:p.Lys309Thr
ENST00000681837.1:n.1800A>C
ENST00000681913.1:n.3430A>C
ENST00000681916.1:c.*952A>C	ENSP00000506477.1:n.*952A>C
ENST00000681930.1:n.3308A>C
ENST00000370834.9:c.1283A>C	ENSP00000359871.5:p.Lys428Thr
ENST00000370841.8:c.1184A>C	ENSP00000359878.4:p.Lys395Thr
ENST00000420607.6:c.1196A>C	ENSP00000409612.2:p.Lys399Thr
ENST00000481374.1:n.457A>C
ENST00000525808.5:c.*770A>C	ENSP00000434823.1:n.*770A>C
ENST00000526129.5:c.*968A>C	ENSP00000434092.1:n.*968A>C
ENST00000526196.5:c.*952A>C	ENSP00000431953.1:n.*952A>C
ENST00000528016.1:c.160-7817A>C	ENSP00000434284.1:n.160-7817A>C
ENST00000529059.5:n.1093A>C
ENST00000541113.5:c.1076A>C	ENSP00000442324.1:p.Lys359Thr
NM_000016.5:c.1184A>C	NP_000007.1:p.Lys395Thr
NM_001127328.2:c.1196A>C	NP_001120800.1:p.Lys399Thr
NM_001286042.1:c.1076A>C	NP_001272971.1:p.Lys359Thr
NM_001286043.1:c.1283A>C	NP_001272972.1:p.Lys428Thr
NM_001286044.1:c.617A>C	NP_001272973.1:p.Lys206Thr
NM_000016.6:c.1184A>C MANE Select	NP_000007.1:p.Lys395Thr
NM_001127328.3:c.1196A>C	NP_001120800.1:p.Lys399Thr
NM_001286042.2:c.1076A>C	NP_001272971.1:p.Lys359Thr
NM_001286043.2:c.1283A>C	NP_001272972.1:p.Lys428Thr
NM_001286044.2:c.617A>C	NP_001272973.1:p.Lys206Thr