Canonical Allele Identifier: CA340817924

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226847A>G (hg19) ; chr1:g.75761162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761162A>G , CM000663.2:g.75761162A>G	GRCh38
NC_000001.10:g.76226847A>G , CM000663.1:g.76226847A>G	GRCh37
NC_000001.9:g.75999435A>G	NCBI36
NG_007045.2:g.41805A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.986A>G MANE Select	ENSP00000359878.5:p.Lys329Arg
ENST00000473018.3:n.3110A>G
ENST00000532207.6:n.1997A>G
ENST00000541113.6:c.890A>G	ENSP00000442324.2:p.Lys297Arg
ENST00000679509.1:n.1948A>G
ENST00000679530.1:c.*754A>G	ENSP00000506454.1:n.*754A>G
ENST00000679615.1:n.3001A>G
ENST00000679687.1:c.548A>G	ENSP00000506598.1:p.Lys183Arg
ENST00000679704.1:c.*752A>G	ENSP00000505117.1:n.*752A>G
ENST00000679709.1:c.*949A>G	ENSP00000506623.1:n.*949A>G
ENST00000679976.1:c.*570A>G	ENSP00000505565.1:n.*570A>G
ENST00000680166.1:n.4275A>G
ENST00000680315.1:n.869A>G
ENST00000680517.1:c.*374A>G	ENSP00000505803.1:n.*374A>G
ENST00000680582.1:n.1948A>G
ENST00000680613.1:c.*479A>G	ENSP00000506114.1:n.*479A>G
ENST00000680662.1:c.*900A>G	ENSP00000505080.1:n.*900A>G
ENST00000680691.1:c.*649A>G	ENSP00000506487.1:n.*649A>G
ENST00000680694.1:c.*574A>G	ENSP00000505658.1:n.*574A>G
ENST00000680743.1:c.*775A>G	ENSP00000505073.1:n.*775A>G
ENST00000680749.1:c.*271A>G	ENSP00000505122.1:n.*271A>G
ENST00000680798.1:c.*461A>G	ENSP00000505670.1:n.*461A>G
ENST00000680805.1:c.845A>G	ENSP00000505447.1:p.Lys282Arg
ENST00000680844.1:c.*770A>G	ENSP00000506541.1:n.*770A>G
ENST00000680948.1:c.*853A>G	ENSP00000505441.1:n.*853A>G
ENST00000680964.1:c.*79A>G	ENSP00000505961.1:n.*79A>G
ENST00000681037.1:c.*2470A>G	ENSP00000506025.1:n.*2470A>G
ENST00000681063.1:c.*255A>G	ENSP00000506616.1:n.*255A>G
ENST00000681209.1:c.*641A>G	ENSP00000505877.1:n.*641A>G
ENST00000681278.1:n.1688A>G
ENST00000681289.1:n.4981A>G
ENST00000681361.1:c.*653A>G	ENSP00000506679.1:n.*653A>G
ENST00000681430.1:c.*79A>G	ENSP00000506301.1:n.*79A>G
ENST00000681446.1:c.*690A>G	ENSP00000506244.1:n.*690A>G
ENST00000681450.1:c.*657A>G	ENSP00000505660.1:n.*657A>G
ENST00000681548.1:c.*572A>G	ENSP00000505275.1:n.*572A>G
ENST00000681616.1:c.*645A>G	ENSP00000505111.1:n.*645A>G
ENST00000681621.1:c.*570A>G	ENSP00000505770.1:n.*570A>G
ENST00000681680.1:n.3081A>G
ENST00000681720.1:c.*441A>G	ENSP00000505438.1:n.*441A>G
ENST00000681730.1:n.1208A>G
ENST00000681790.1:c.728A>G	ENSP00000505130.1:p.Lys243Arg
ENST00000681837.1:n.1602A>G
ENST00000681913.1:n.3232A>G
ENST00000681916.1:c.*754A>G	ENSP00000506477.1:n.*754A>G
ENST00000681930.1:n.3110A>G
ENST00000370834.9:c.1085A>G	ENSP00000359871.5:p.Lys362Arg
ENST00000370841.8:c.986A>G	ENSP00000359878.4:p.Lys329Arg
ENST00000420607.6:c.998A>G	ENSP00000409612.2:p.Lys333Arg
ENST00000481374.1:n.259A>G
ENST00000525808.5:c.*572A>G	ENSP00000434823.1:n.*572A>G
ENST00000526129.5:c.*770A>G	ENSP00000434092.1:n.*770A>G
ENST00000526196.5:c.*754A>G	ENSP00000431953.1:n.*754A>G
ENST00000528016.1:c.160-8015A>G	ENSP00000434284.1:n.160-8015A>G
ENST00000529059.5:n.895A>G
ENST00000532207.5:n.716A>G
ENST00000534334.5:c.*727A>G	ENSP00000435584.1:n.*727A>G
ENST00000541113.5:c.878A>G	ENSP00000442324.1:p.Lys293Arg
NM_000016.5:c.986A>G	NP_000007.1:p.Lys329Arg
NM_001127328.2:c.998A>G	NP_001120800.1:p.Lys333Arg
NM_001286042.1:c.878A>G	NP_001272971.1:p.Lys293Arg
NM_001286043.1:c.1085A>G	NP_001272972.1:p.Lys362Arg
NM_001286044.1:c.419A>G	NP_001272973.1:p.Lys140Arg
NM_000016.6:c.986A>G MANE Select	NP_000007.1:p.Lys329Arg
NM_001127328.3:c.998A>G	NP_001120800.1:p.Lys333Arg
NM_001286042.2:c.878A>G	NP_001272971.1:p.Lys293Arg
NM_001286043.2:c.1085A>G	NP_001272972.1:p.Lys362Arg
NM_001286044.2:c.419A>G	NP_001272973.1:p.Lys140Arg