Canonical Allele Identifier: CA340816542

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215120A>T (hg19) ; chr1:g.75749435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749435A>T , CM000663.2:g.75749435A>T	GRCh38
NC_000001.10:g.76215120A>T , CM000663.1:g.76215120A>T	GRCh37
NC_000001.9:g.75987708A>T	NCBI36
NG_007045.2:g.30078A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.725A>T MANE Select	ENSP00000359878.5:p.Gln242Leu
ENST00000473018.3:n.2849A>T
ENST00000532207.6:n.1614A>T
ENST00000541113.6:c.725A>T	ENSP00000442324.2:p.Gln242Leu
ENST00000679509.1:n.1687A>T
ENST00000679530.1:c.*493A>T	ENSP00000506454.1:n.*493A>T
ENST00000679615.1:n.2740A>T
ENST00000679687.1:c.287A>T	ENSP00000506598.1:p.Gln96Leu
ENST00000679704.1:c.*491A>T	ENSP00000505117.1:n.*491A>T
ENST00000679709.1:c.*688A>T	ENSP00000506623.1:n.*688A>T
ENST00000679976.1:c.*309A>T	ENSP00000505565.1:n.*309A>T
ENST00000680166.1:n.4014A>T
ENST00000680517.1:c.*113A>T	ENSP00000505803.1:n.*113A>T
ENST00000680582.1:n.1687A>T
ENST00000680613.1:c.*96A>T	ENSP00000506114.1:n.*96A>T
ENST00000680662.1:c.*639A>T	ENSP00000505080.1:n.*639A>T
ENST00000680691.1:c.*388A>T	ENSP00000506487.1:n.*388A>T
ENST00000680694.1:c.*313A>T	ENSP00000505658.1:n.*313A>T
ENST00000680743.1:c.*392A>T	ENSP00000505073.1:n.*392A>T
ENST00000680749.1:c.*10A>T	ENSP00000505122.1:n.*10A>T
ENST00000680798.1:c.*200A>T	ENSP00000505670.1:n.*200A>T
ENST00000680805.1:c.709-1016A>T	ENSP00000505447.1:n.709-1016A>T
ENST00000680844.1:c.*509A>T	ENSP00000506541.1:n.*509A>T
ENST00000680948.1:c.*592A>T	ENSP00000505441.1:n.*592A>T
ENST00000680964.1:c.725A>T	ENSP00000505961.1:p.Gln242Leu
ENST00000681037.1:c.*2209A>T	ENSP00000506025.1:n.*2209A>T
ENST00000681063.1:c.600-1016A>T	ENSP00000506616.1:n.600-1016A>T
ENST00000681209.1:c.*380A>T	ENSP00000505877.1:n.*380A>T
ENST00000681278.1:n.1082A>T
ENST00000681289.1:n.4720A>T
ENST00000681361.1:c.*392A>T	ENSP00000506679.1:n.*392A>T
ENST00000681430.1:c.725A>T	ENSP00000506301.1:p.Gln242Leu
ENST00000681446.1:c.*307A>T	ENSP00000506244.1:n.*307A>T
ENST00000681450.1:c.*396A>T	ENSP00000505660.1:n.*396A>T
ENST00000681548.1:c.*311A>T	ENSP00000505275.1:n.*311A>T
ENST00000681616.1:c.*384A>T	ENSP00000505111.1:n.*384A>T
ENST00000681621.1:c.*309A>T	ENSP00000505770.1:n.*309A>T
ENST00000681680.1:n.2820A>T
ENST00000681720.1:c.*180A>T	ENSP00000505438.1:n.*180A>T
ENST00000681730.1:n.947A>T
ENST00000681790.1:c.467A>T	ENSP00000505130.1:p.Gln156Leu
ENST00000681837.1:n.1341A>T
ENST00000681913.1:n.2849A>T
ENST00000681916.1:c.*493A>T	ENSP00000506477.1:n.*493A>T
ENST00000681930.1:n.2849A>T
ENST00000370834.9:c.824A>T	ENSP00000359871.5:p.Gln275Leu
ENST00000370841.8:c.725A>T	ENSP00000359878.4:p.Gln242Leu
ENST00000420607.6:c.737A>T	ENSP00000409612.2:p.Gln246Leu
ENST00000525808.5:c.*311A>T	ENSP00000434823.1:n.*311A>T
ENST00000526129.5:c.*509A>T	ENSP00000434092.1:n.*509A>T
ENST00000526196.5:c.*493A>T	ENSP00000431953.1:n.*493A>T
ENST00000526930.1:n.498A>T
ENST00000529059.5:n.634A>T
ENST00000530953.6:c.*222A>T	ENSP00000431372.1:n.*222A>T
ENST00000532207.5:n.455A>T
ENST00000532509.5:c.*489A>T	ENSP00000432522.1:n.*489A>T
ENST00000534334.5:c.*309A>T	ENSP00000435584.1:n.*309A>T
ENST00000541113.5:c.617A>T	ENSP00000442324.1:p.Gln206Leu
NM_000016.5:c.725A>T	NP_000007.1:p.Gln242Leu
NM_001127328.2:c.737A>T	NP_001120800.1:p.Gln246Leu
NM_001286042.1:c.617A>T	NP_001272971.1:p.Gln206Leu
NM_001286043.1:c.824A>T	NP_001272972.1:p.Gln275Leu
NM_001286044.1:c.158A>T	NP_001272973.1:p.Gln53Leu
NM_000016.6:c.725A>T MANE Select	NP_000007.1:p.Gln242Leu
NM_001127328.3:c.737A>T	NP_001120800.1:p.Gln246Leu
NM_001286042.2:c.617A>T	NP_001272971.1:p.Gln206Leu
NM_001286043.2:c.824A>T	NP_001272972.1:p.Gln275Leu
NM_001286044.2:c.158A>T	NP_001272973.1:p.Gln53Leu