Canonical Allele Identifier: CA418707736

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226989T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761304T>G , CM000663.2:g.75761304T>G	GRCh38
NC_000001.10:g.76226989T>G , CM000663.1:g.76226989T>G	GRCh37
NC_000001.9:g.75999577T>G	NCBI36
NG_007045.2:g.41947T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1128T>G MANE Select	ENSP00000359878.5:p.Leu376=
ENST00000473018.3:n.3252T>G
ENST00000532207.6:n.2139T>G
ENST00000541113.6:c.1032T>G	ENSP00000442324.2:p.Leu344=
ENST00000679509.1:n.2090T>G
ENST00000679530.1:c.*896T>G	ENSP00000506454.1:n.*896T>G
ENST00000679615.1:n.3143T>G
ENST00000679687.1:c.690T>G	ENSP00000506598.1:p.Leu230=
ENST00000679704.1:c.*894T>G	ENSP00000505117.1:n.*894T>G
ENST00000679709.1:c.*1091T>G	ENSP00000506623.1:n.*1091T>G
ENST00000679976.1:c.*712T>G	ENSP00000505565.1:n.*712T>G
ENST00000680166.1:n.4417T>G
ENST00000680315.1:n.1011T>G
ENST00000680517.1:c.*516T>G	ENSP00000505803.1:n.*516T>G
ENST00000680582.1:n.2090T>G
ENST00000680613.1:c.*621T>G	ENSP00000506114.1:n.*621T>G
ENST00000680662.1:c.*1042T>G	ENSP00000505080.1:n.*1042T>G
ENST00000680691.1:c.*791T>G	ENSP00000506487.1:n.*791T>G
ENST00000680694.1:c.*716T>G	ENSP00000505658.1:n.*716T>G
ENST00000680743.1:c.*917T>G	ENSP00000505073.1:n.*917T>G
ENST00000680749.1:c.*413T>G	ENSP00000505122.1:n.*413T>G
ENST00000680798.1:c.*603T>G	ENSP00000505670.1:n.*603T>G
ENST00000680805.1:c.987T>G	ENSP00000505447.1:p.Leu329=
ENST00000680844.1:c.*912T>G	ENSP00000506541.1:n.*912T>G
ENST00000680948.1:c.*995T>G	ENSP00000505441.1:n.*995T>G
ENST00000680964.1:c.*221T>G	ENSP00000505961.1:n.*221T>G
ENST00000681037.1:c.*2612T>G	ENSP00000506025.1:n.*2612T>G
ENST00000681063.1:c.*397T>G	ENSP00000506616.1:n.*397T>G
ENST00000681209.1:c.*783T>G	ENSP00000505877.1:n.*783T>G
ENST00000681278.1:n.1830T>G
ENST00000681289.1:n.5123T>G
ENST00000681361.1:c.*795T>G	ENSP00000506679.1:n.*795T>G
ENST00000681430.1:c.*221T>G	ENSP00000506301.1:n.*221T>G
ENST00000681446.1:c.*832T>G	ENSP00000506244.1:n.*832T>G
ENST00000681450.1:c.*799T>G	ENSP00000505660.1:n.*799T>G
ENST00000681548.1:c.*714T>G	ENSP00000505275.1:n.*714T>G
ENST00000681616.1:c.*787T>G	ENSP00000505111.1:n.*787T>G
ENST00000681621.1:c.*712T>G	ENSP00000505770.1:n.*712T>G
ENST00000681680.1:n.3223T>G
ENST00000681720.1:c.*583T>G	ENSP00000505438.1:n.*583T>G
ENST00000681730.1:n.1350T>G
ENST00000681790.1:c.870T>G	ENSP00000505130.1:p.Leu290=
ENST00000681837.1:n.1744T>G
ENST00000681913.1:n.3374T>G
ENST00000681916.1:c.*896T>G	ENSP00000506477.1:n.*896T>G
ENST00000681930.1:n.3252T>G
ENST00000370834.9:c.1227T>G	ENSP00000359871.5:p.Leu409=
ENST00000370841.8:c.1128T>G	ENSP00000359878.4:p.Leu376=
ENST00000420607.6:c.1140T>G	ENSP00000409612.2:p.Leu380=
ENST00000481374.1:n.401T>G
ENST00000525808.5:c.*714T>G	ENSP00000434823.1:n.*714T>G
ENST00000526129.5:c.*912T>G	ENSP00000434092.1:n.*912T>G
ENST00000526196.5:c.*896T>G	ENSP00000431953.1:n.*896T>G
ENST00000528016.1:c.160-7873T>G	ENSP00000434284.1:n.160-7873T>G
ENST00000529059.5:n.1037T>G
ENST00000541113.5:c.1020T>G	ENSP00000442324.1:p.Leu340=
NM_000016.5:c.1128T>G	NP_000007.1:p.Leu376=
NM_001127328.2:c.1140T>G	NP_001120800.1:p.Leu380=
NM_001286042.1:c.1020T>G	NP_001272971.1:p.Leu340=
NM_001286043.1:c.1227T>G	NP_001272972.1:p.Leu409=
NM_001286044.1:c.561T>G	NP_001272973.1:p.Leu187=
NM_000016.6:c.1128T>G MANE Select	NP_000007.1:p.Leu376=
NM_001127328.3:c.1140T>G	NP_001120800.1:p.Leu380=
NM_001286042.2:c.1020T>G	NP_001272971.1:p.Leu340=
NM_001286043.2:c.1227T>G	NP_001272972.1:p.Leu409=
NM_001286044.2:c.561T>G	NP_001272973.1:p.Leu187=