Canonical Allele Identifier: CA418707699

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226965A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761280A>G , CM000663.2:g.75761280A>G	GRCh38
NC_000001.10:g.76226965A>G , CM000663.1:g.76226965A>G	GRCh37
NC_000001.9:g.75999553A>G	NCBI36
NG_007045.2:g.41923A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1104A>G MANE Select	ENSP00000359878.5:p.Leu368=
ENST00000473018.3:n.3228A>G
ENST00000532207.6:n.2115A>G
ENST00000541113.6:c.1008A>G	ENSP00000442324.2:p.Leu336=
ENST00000679509.1:n.2066A>G
ENST00000679530.1:c.*872A>G	ENSP00000506454.1:n.*872A>G
ENST00000679615.1:n.3119A>G
ENST00000679687.1:c.666A>G	ENSP00000506598.1:p.Leu222=
ENST00000679704.1:c.*870A>G	ENSP00000505117.1:n.*870A>G
ENST00000679709.1:c.*1067A>G	ENSP00000506623.1:n.*1067A>G
ENST00000679976.1:c.*688A>G	ENSP00000505565.1:n.*688A>G
ENST00000680166.1:n.4393A>G
ENST00000680315.1:n.987A>G
ENST00000680517.1:c.*492A>G	ENSP00000505803.1:n.*492A>G
ENST00000680582.1:n.2066A>G
ENST00000680613.1:c.*597A>G	ENSP00000506114.1:n.*597A>G
ENST00000680662.1:c.*1018A>G	ENSP00000505080.1:n.*1018A>G
ENST00000680691.1:c.*767A>G	ENSP00000506487.1:n.*767A>G
ENST00000680694.1:c.*692A>G	ENSP00000505658.1:n.*692A>G
ENST00000680743.1:c.*893A>G	ENSP00000505073.1:n.*893A>G
ENST00000680749.1:c.*389A>G	ENSP00000505122.1:n.*389A>G
ENST00000680798.1:c.*579A>G	ENSP00000505670.1:n.*579A>G
ENST00000680805.1:c.963A>G	ENSP00000505447.1:p.Leu321=
ENST00000680844.1:c.*888A>G	ENSP00000506541.1:n.*888A>G
ENST00000680948.1:c.*971A>G	ENSP00000505441.1:n.*971A>G
ENST00000680964.1:c.*197A>G	ENSP00000505961.1:n.*197A>G
ENST00000681037.1:c.*2588A>G	ENSP00000506025.1:n.*2588A>G
ENST00000681063.1:c.*373A>G	ENSP00000506616.1:n.*373A>G
ENST00000681209.1:c.*759A>G	ENSP00000505877.1:n.*759A>G
ENST00000681278.1:n.1806A>G
ENST00000681289.1:n.5099A>G
ENST00000681361.1:c.*771A>G	ENSP00000506679.1:n.*771A>G
ENST00000681430.1:c.*197A>G	ENSP00000506301.1:n.*197A>G
ENST00000681446.1:c.*808A>G	ENSP00000506244.1:n.*808A>G
ENST00000681450.1:c.*775A>G	ENSP00000505660.1:n.*775A>G
ENST00000681548.1:c.*690A>G	ENSP00000505275.1:n.*690A>G
ENST00000681616.1:c.*763A>G	ENSP00000505111.1:n.*763A>G
ENST00000681621.1:c.*688A>G	ENSP00000505770.1:n.*688A>G
ENST00000681680.1:n.3199A>G
ENST00000681720.1:c.*559A>G	ENSP00000505438.1:n.*559A>G
ENST00000681730.1:n.1326A>G
ENST00000681790.1:c.846A>G	ENSP00000505130.1:p.Leu282=
ENST00000681837.1:n.1720A>G
ENST00000681913.1:n.3350A>G
ENST00000681916.1:c.*872A>G	ENSP00000506477.1:n.*872A>G
ENST00000681930.1:n.3228A>G
ENST00000370834.9:c.1203A>G	ENSP00000359871.5:p.Leu401=
ENST00000370841.8:c.1104A>G	ENSP00000359878.4:p.Leu368=
ENST00000420607.6:c.1116A>G	ENSP00000409612.2:p.Leu372=
ENST00000481374.1:n.377A>G
ENST00000525808.5:c.*690A>G	ENSP00000434823.1:n.*690A>G
ENST00000526129.5:c.*888A>G	ENSP00000434092.1:n.*888A>G
ENST00000526196.5:c.*872A>G	ENSP00000431953.1:n.*872A>G
ENST00000528016.1:c.160-7897A>G	ENSP00000434284.1:n.160-7897A>G
ENST00000529059.5:n.1013A>G
ENST00000541113.5:c.996A>G	ENSP00000442324.1:p.Leu332=
NM_000016.5:c.1104A>G	NP_000007.1:p.Leu368=
NM_001127328.2:c.1116A>G	NP_001120800.1:p.Leu372=
NM_001286042.1:c.996A>G	NP_001272971.1:p.Leu332=
NM_001286043.1:c.1203A>G	NP_001272972.1:p.Leu401=
NM_001286044.1:c.537A>G	NP_001272973.1:p.Leu179=
NM_000016.6:c.1104A>G MANE Select	NP_000007.1:p.Leu368=
NM_001127328.3:c.1116A>G	NP_001120800.1:p.Leu372=
NM_001286042.2:c.996A>G	NP_001272971.1:p.Leu332=
NM_001286043.2:c.1203A>G	NP_001272972.1:p.Leu401=
NM_001286044.2:c.537A>G	NP_001272973.1:p.Leu179=