Canonical Allele Identifier: CA340815057

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205714A>G (hg19) ; chr1:g.75740029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740029A>G , CM000663.2:g.75740029A>G	GRCh38
NC_000001.10:g.76205714A>G , CM000663.1:g.76205714A>G	GRCh37
NC_000001.9:g.75978302A>G	NCBI36
NG_007045.2:g.20672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.518A>G MANE Select	ENSP00000359878.5:p.Lys173Arg
ENST00000473018.3:n.2642A>G
ENST00000541113.6:c.518A>G	ENSP00000442324.2:p.Lys173Arg
ENST00000679509.1:n.1480A>G
ENST00000679530.1:c.*286A>G	ENSP00000506454.1:n.*286A>G
ENST00000679615.1:n.2642A>G
ENST00000679687.1:c.80A>G	ENSP00000506598.1:p.Lys27Arg
ENST00000679704.1:c.*284A>G	ENSP00000505117.1:n.*284A>G
ENST00000679709.1:c.*481A>G	ENSP00000506623.1:n.*481A>G
ENST00000679804.1:n.257A>G
ENST00000679976.1:c.*102A>G	ENSP00000505565.1:n.*102A>G
ENST00000680166.1:n.3807A>G
ENST00000680517.1:c.*15A>G	ENSP00000505803.1:n.*15A>G
ENST00000680582.1:n.1480A>G
ENST00000680613.1:c.518A>G	ENSP00000506114.1:p.Lys173Arg
ENST00000680662.1:c.*432A>G	ENSP00000505080.1:n.*432A>G
ENST00000680691.1:c.*181A>G	ENSP00000506487.1:n.*181A>G
ENST00000680694.1:c.*106A>G	ENSP00000505658.1:n.*106A>G
ENST00000680743.1:c.*185A>G	ENSP00000505073.1:n.*185A>G
ENST00000680749.1:c.518A>G	ENSP00000505122.1:p.Lys173Arg
ENST00000680798.1:c.*102A>G	ENSP00000505670.1:n.*102A>G
ENST00000680805.1:c.518A>G	ENSP00000505447.1:p.Lys173Arg
ENST00000680844.1:c.*302A>G	ENSP00000506541.1:n.*302A>G
ENST00000680948.1:c.*385A>G	ENSP00000505441.1:n.*385A>G
ENST00000680964.1:c.518A>G	ENSP00000505961.1:p.Lys173Arg
ENST00000681037.1:c.518A>G	ENSP00000506025.1:p.Lys173Arg
ENST00000681063.1:c.518A>G	ENSP00000506616.1:p.Lys173Arg
ENST00000681209.1:c.*282A>G	ENSP00000505877.1:n.*282A>G
ENST00000681278.1:n.875A>G
ENST00000681289.1:n.875A>G
ENST00000681361.1:c.*185A>G	ENSP00000506679.1:n.*185A>G
ENST00000681430.1:c.518A>G	ENSP00000506301.1:p.Lys173Arg
ENST00000681446.1:c.*100A>G	ENSP00000506244.1:n.*100A>G
ENST00000681450.1:c.*189A>G	ENSP00000505660.1:n.*189A>G
ENST00000681548.1:c.*104A>G	ENSP00000505275.1:n.*104A>G
ENST00000681616.1:c.*286A>G	ENSP00000505111.1:n.*286A>G
ENST00000681621.1:c.*102A>G	ENSP00000505770.1:n.*102A>G
ENST00000681680.1:n.2642A>G
ENST00000681720.1:c.*55-5777A>G	ENSP00000505438.1:n.*55-5777A>G
ENST00000681730.1:n.740A>G
ENST00000681790.1:c.260A>G	ENSP00000505130.1:p.Lys87Arg
ENST00000681837.1:n.1134A>G
ENST00000681913.1:n.2642A>G
ENST00000681916.1:c.*286A>G	ENSP00000506477.1:n.*286A>G
ENST00000681930.1:n.2642A>G
ENST00000370834.9:c.617A>G	ENSP00000359871.5:p.Lys206Arg
ENST00000370841.8:c.518A>G	ENSP00000359878.4:p.Lys173Arg
ENST00000420607.6:c.530A>G	ENSP00000409612.2:p.Lys177Arg
ENST00000525808.5:c.*104A>G	ENSP00000434823.1:n.*104A>G
ENST00000526129.5:c.*302A>G	ENSP00000434092.1:n.*302A>G
ENST00000526196.5:c.*286A>G	ENSP00000431953.1:n.*286A>G
ENST00000526930.1:n.291A>G
ENST00000529059.5:n.427A>G
ENST00000530953.6:c.*15A>G	ENSP00000431372.1:n.*15A>G
ENST00000532509.5:c.*282A>G	ENSP00000432522.1:n.*282A>G
ENST00000534334.5:c.*102A>G	ENSP00000435584.1:n.*102A>G
ENST00000541113.5:c.410A>G	ENSP00000442324.1:p.Lys137Arg
NM_000016.5:c.518A>G	NP_000007.1:p.Lys173Arg
NM_001127328.2:c.530A>G	NP_001120800.1:p.Lys177Arg
NM_001286042.1:c.410A>G	NP_001272971.1:p.Lys137Arg
NM_001286043.1:c.617A>G	NP_001272972.1:p.Lys206Arg
NM_001286044.1:c.-50A>G	NP_001272973.1:n.-50A>G
NM_000016.6:c.518A>G MANE Select	NP_000007.1:p.Lys173Arg
NM_001127328.3:c.530A>G	NP_001120800.1:p.Lys177Arg
NM_001286042.2:c.410A>G	NP_001272971.1:p.Lys137Arg
NM_001286043.2:c.617A>G	NP_001272972.1:p.Lys206Arg
NM_001286044.2:c.-50A>G	NP_001272973.1:n.-50A>G