Canonical Allele Identifier: CA340818143

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226949A>C (hg19) ; chr1:g.75761264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761264A>C , CM000663.2:g.75761264A>C	GRCh38
NC_000001.10:g.76226949A>C , CM000663.1:g.76226949A>C	GRCh37
NC_000001.9:g.75999537A>C	NCBI36
NG_007045.2:g.41907A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1088A>C MANE Select	ENSP00000359878.5:p.Asp363Ala
ENST00000473018.3:n.3212A>C
ENST00000532207.6:n.2099A>C
ENST00000541113.6:c.992A>C	ENSP00000442324.2:p.Asp331Ala
ENST00000679509.1:n.2050A>C
ENST00000679530.1:c.*856A>C	ENSP00000506454.1:n.*856A>C
ENST00000679615.1:n.3103A>C
ENST00000679687.1:c.650A>C	ENSP00000506598.1:p.Asp217Ala
ENST00000679704.1:c.*854A>C	ENSP00000505117.1:n.*854A>C
ENST00000679709.1:c.*1051A>C	ENSP00000506623.1:n.*1051A>C
ENST00000679976.1:c.*672A>C	ENSP00000505565.1:n.*672A>C
ENST00000680166.1:n.4377A>C
ENST00000680315.1:n.971A>C
ENST00000680517.1:c.*476A>C	ENSP00000505803.1:n.*476A>C
ENST00000680582.1:n.2050A>C
ENST00000680613.1:c.*581A>C	ENSP00000506114.1:n.*581A>C
ENST00000680662.1:c.*1002A>C	ENSP00000505080.1:n.*1002A>C
ENST00000680691.1:c.*751A>C	ENSP00000506487.1:n.*751A>C
ENST00000680694.1:c.*676A>C	ENSP00000505658.1:n.*676A>C
ENST00000680743.1:c.*877A>C	ENSP00000505073.1:n.*877A>C
ENST00000680749.1:c.*373A>C	ENSP00000505122.1:n.*373A>C
ENST00000680798.1:c.*563A>C	ENSP00000505670.1:n.*563A>C
ENST00000680805.1:c.947A>C	ENSP00000505447.1:p.Asp316Ala
ENST00000680844.1:c.*872A>C	ENSP00000506541.1:n.*872A>C
ENST00000680948.1:c.*955A>C	ENSP00000505441.1:n.*955A>C
ENST00000680964.1:c.*181A>C	ENSP00000505961.1:n.*181A>C
ENST00000681037.1:c.*2572A>C	ENSP00000506025.1:n.*2572A>C
ENST00000681063.1:c.*357A>C	ENSP00000506616.1:n.*357A>C
ENST00000681209.1:c.*743A>C	ENSP00000505877.1:n.*743A>C
ENST00000681278.1:n.1790A>C
ENST00000681289.1:n.5083A>C
ENST00000681361.1:c.*755A>C	ENSP00000506679.1:n.*755A>C
ENST00000681430.1:c.*181A>C	ENSP00000506301.1:n.*181A>C
ENST00000681446.1:c.*792A>C	ENSP00000506244.1:n.*792A>C
ENST00000681450.1:c.*759A>C	ENSP00000505660.1:n.*759A>C
ENST00000681548.1:c.*674A>C	ENSP00000505275.1:n.*674A>C
ENST00000681616.1:c.*747A>C	ENSP00000505111.1:n.*747A>C
ENST00000681621.1:c.*672A>C	ENSP00000505770.1:n.*672A>C
ENST00000681680.1:n.3183A>C
ENST00000681720.1:c.*543A>C	ENSP00000505438.1:n.*543A>C
ENST00000681730.1:n.1310A>C
ENST00000681790.1:c.830A>C	ENSP00000505130.1:p.Asp277Ala
ENST00000681837.1:n.1704A>C
ENST00000681913.1:n.3334A>C
ENST00000681916.1:c.*856A>C	ENSP00000506477.1:n.*856A>C
ENST00000681930.1:n.3212A>C
ENST00000370834.9:c.1187A>C	ENSP00000359871.5:p.Asp396Ala
ENST00000370841.8:c.1088A>C	ENSP00000359878.4:p.Asp363Ala
ENST00000420607.6:c.1100A>C	ENSP00000409612.2:p.Asp367Ala
ENST00000481374.1:n.361A>C
ENST00000525808.5:c.*674A>C	ENSP00000434823.1:n.*674A>C
ENST00000526129.5:c.*872A>C	ENSP00000434092.1:n.*872A>C
ENST00000526196.5:c.*856A>C	ENSP00000431953.1:n.*856A>C
ENST00000528016.1:c.160-7913A>C	ENSP00000434284.1:n.160-7913A>C
ENST00000529059.5:n.997A>C
ENST00000541113.5:c.980A>C	ENSP00000442324.1:p.Asp327Ala
NM_000016.5:c.1088A>C	NP_000007.1:p.Asp363Ala
NM_001127328.2:c.1100A>C	NP_001120800.1:p.Asp367Ala
NM_001286042.1:c.980A>C	NP_001272971.1:p.Asp327Ala
NM_001286043.1:c.1187A>C	NP_001272972.1:p.Asp396Ala
NM_001286044.1:c.521A>C	NP_001272973.1:p.Asp174Ala
NM_000016.6:c.1088A>C MANE Select	NP_000007.1:p.Asp363Ala
NM_001127328.3:c.1100A>C	NP_001120800.1:p.Asp367Ala
NM_001286042.2:c.980A>C	NP_001272971.1:p.Asp327Ala
NM_001286043.2:c.1187A>C	NP_001272972.1:p.Asp396Ala
NM_001286044.2:c.521A>C	NP_001272973.1:p.Asp174Ala