Canonical Allele Identifier: CA340818297

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227023G>C (hg19) ; chr1:g.75761338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761338G>C , CM000663.2:g.75761338G>C	GRCh38
NC_000001.10:g.76227023G>C , CM000663.1:g.76227023G>C	GRCh37
NC_000001.9:g.75999611G>C	NCBI36
NG_007045.2:g.41981G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1162G>C MANE Select	ENSP00000359878.5:p.Glu388Gln
ENST00000473018.3:n.3286G>C
ENST00000532207.6:n.2173G>C
ENST00000541113.6:c.1066G>C	ENSP00000442324.2:p.Glu356Gln
ENST00000679509.1:n.2124G>C
ENST00000679530.1:c.*930G>C	ENSP00000506454.1:n.*930G>C
ENST00000679615.1:n.3177G>C
ENST00000679687.1:c.724G>C	ENSP00000506598.1:p.Glu242Gln
ENST00000679704.1:c.*928G>C	ENSP00000505117.1:n.*928G>C
ENST00000679709.1:c.*1125G>C	ENSP00000506623.1:n.*1125G>C
ENST00000679976.1:c.*746G>C	ENSP00000505565.1:n.*746G>C
ENST00000680166.1:n.4451G>C
ENST00000680315.1:n.1045G>C
ENST00000680517.1:c.*550G>C	ENSP00000505803.1:n.*550G>C
ENST00000680582.1:n.2124G>C
ENST00000680613.1:c.*655G>C	ENSP00000506114.1:n.*655G>C
ENST00000680662.1:c.*1076G>C	ENSP00000505080.1:n.*1076G>C
ENST00000680691.1:c.*825G>C	ENSP00000506487.1:n.*825G>C
ENST00000680694.1:c.*750G>C	ENSP00000505658.1:n.*750G>C
ENST00000680743.1:c.*951G>C	ENSP00000505073.1:n.*951G>C
ENST00000680749.1:c.*447G>C	ENSP00000505122.1:n.*447G>C
ENST00000680798.1:c.*637G>C	ENSP00000505670.1:n.*637G>C
ENST00000680805.1:c.1021G>C	ENSP00000505447.1:p.Glu341Gln
ENST00000680844.1:c.*946G>C	ENSP00000506541.1:n.*946G>C
ENST00000680948.1:c.*1029G>C	ENSP00000505441.1:n.*1029G>C
ENST00000680964.1:c.*255G>C	ENSP00000505961.1:n.*255G>C
ENST00000681037.1:c.*2646G>C	ENSP00000506025.1:n.*2646G>C
ENST00000681063.1:c.*431G>C	ENSP00000506616.1:n.*431G>C
ENST00000681209.1:c.*817G>C	ENSP00000505877.1:n.*817G>C
ENST00000681278.1:n.1864G>C
ENST00000681289.1:n.5157G>C
ENST00000681361.1:c.*829G>C	ENSP00000506679.1:n.*829G>C
ENST00000681430.1:c.*255G>C	ENSP00000506301.1:n.*255G>C
ENST00000681446.1:c.*866G>C	ENSP00000506244.1:n.*866G>C
ENST00000681450.1:c.*833G>C	ENSP00000505660.1:n.*833G>C
ENST00000681548.1:c.*748G>C	ENSP00000505275.1:n.*748G>C
ENST00000681616.1:c.*821G>C	ENSP00000505111.1:n.*821G>C
ENST00000681621.1:c.*746G>C	ENSP00000505770.1:n.*746G>C
ENST00000681680.1:n.3257G>C
ENST00000681720.1:c.*617G>C	ENSP00000505438.1:n.*617G>C
ENST00000681730.1:n.1384G>C
ENST00000681790.1:c.904G>C	ENSP00000505130.1:p.Glu302Gln
ENST00000681837.1:n.1778G>C
ENST00000681913.1:n.3408G>C
ENST00000681916.1:c.*930G>C	ENSP00000506477.1:n.*930G>C
ENST00000681930.1:n.3286G>C
ENST00000370834.9:c.1261G>C	ENSP00000359871.5:p.Glu421Gln
ENST00000370841.8:c.1162G>C	ENSP00000359878.4:p.Glu388Gln
ENST00000420607.6:c.1174G>C	ENSP00000409612.2:p.Glu392Gln
ENST00000481374.1:n.435G>C
ENST00000525808.5:c.*748G>C	ENSP00000434823.1:n.*748G>C
ENST00000526129.5:c.*946G>C	ENSP00000434092.1:n.*946G>C
ENST00000526196.5:c.*930G>C	ENSP00000431953.1:n.*930G>C
ENST00000528016.1:c.160-7839G>C	ENSP00000434284.1:n.160-7839G>C
ENST00000529059.5:n.1071G>C
ENST00000541113.5:c.1054G>C	ENSP00000442324.1:p.Glu352Gln
NM_000016.5:c.1162G>C	NP_000007.1:p.Glu388Gln
NM_001127328.2:c.1174G>C	NP_001120800.1:p.Glu392Gln
NM_001286042.1:c.1054G>C	NP_001272971.1:p.Glu352Gln
NM_001286043.1:c.1261G>C	NP_001272972.1:p.Glu421Gln
NM_001286044.1:c.595G>C	NP_001272973.1:p.Glu199Gln
NM_000016.6:c.1162G>C MANE Select	NP_000007.1:p.Glu388Gln
NM_001127328.3:c.1174G>C	NP_001120800.1:p.Glu392Gln
NM_001286042.2:c.1054G>C	NP_001272971.1:p.Glu352Gln
NM_001286043.2:c.1261G>C	NP_001272972.1:p.Glu421Gln
NM_001286044.2:c.595G>C	NP_001272973.1:p.Glu199Gln