Canonical Allele Identifier: CA340818346

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227044A>G (hg19) ; chr1:g.75761359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761359A>G , CM000663.2:g.75761359A>G	GRCh38
NC_000001.10:g.76227044A>G , CM000663.1:g.76227044A>G	GRCh37
NC_000001.9:g.75999632A>G	NCBI36
NG_007045.2:g.42002A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1183A>G MANE Select	ENSP00000359878.5:p.Lys395Glu
ENST00000473018.3:n.3307A>G
ENST00000532207.6:n.2194A>G
ENST00000541113.6:c.1087A>G	ENSP00000442324.2:p.Lys363Glu
ENST00000679509.1:n.2145A>G
ENST00000679530.1:c.*951A>G	ENSP00000506454.1:n.*951A>G
ENST00000679615.1:n.3198A>G
ENST00000679687.1:c.745A>G	ENSP00000506598.1:p.Lys249Glu
ENST00000679704.1:c.*949A>G	ENSP00000505117.1:n.*949A>G
ENST00000679709.1:c.*1146A>G	ENSP00000506623.1:n.*1146A>G
ENST00000679976.1:c.*767A>G	ENSP00000505565.1:n.*767A>G
ENST00000680166.1:n.4472A>G
ENST00000680315.1:n.1066A>G
ENST00000680517.1:c.*571A>G	ENSP00000505803.1:n.*571A>G
ENST00000680582.1:n.2145A>G
ENST00000680613.1:c.*676A>G	ENSP00000506114.1:n.*676A>G
ENST00000680662.1:c.*1097A>G	ENSP00000505080.1:n.*1097A>G
ENST00000680691.1:c.*846A>G	ENSP00000506487.1:n.*846A>G
ENST00000680694.1:c.*771A>G	ENSP00000505658.1:n.*771A>G
ENST00000680743.1:c.*972A>G	ENSP00000505073.1:n.*972A>G
ENST00000680749.1:c.*468A>G	ENSP00000505122.1:n.*468A>G
ENST00000680798.1:c.*658A>G	ENSP00000505670.1:n.*658A>G
ENST00000680805.1:c.1042A>G	ENSP00000505447.1:p.Lys348Glu
ENST00000680844.1:c.*967A>G	ENSP00000506541.1:n.*967A>G
ENST00000680948.1:c.*1050A>G	ENSP00000505441.1:n.*1050A>G
ENST00000680964.1:c.*276A>G	ENSP00000505961.1:n.*276A>G
ENST00000681037.1:c.*2667A>G	ENSP00000506025.1:n.*2667A>G
ENST00000681063.1:c.*452A>G	ENSP00000506616.1:n.*452A>G
ENST00000681209.1:c.*838A>G	ENSP00000505877.1:n.*838A>G
ENST00000681278.1:n.1885A>G
ENST00000681289.1:n.5178A>G
ENST00000681361.1:c.*850A>G	ENSP00000506679.1:n.*850A>G
ENST00000681430.1:c.*276A>G	ENSP00000506301.1:n.*276A>G
ENST00000681446.1:c.*887A>G	ENSP00000506244.1:n.*887A>G
ENST00000681450.1:c.*854A>G	ENSP00000505660.1:n.*854A>G
ENST00000681548.1:c.*769A>G	ENSP00000505275.1:n.*769A>G
ENST00000681616.1:c.*842A>G	ENSP00000505111.1:n.*842A>G
ENST00000681621.1:c.*767A>G	ENSP00000505770.1:n.*767A>G
ENST00000681680.1:n.3278A>G
ENST00000681720.1:c.*638A>G	ENSP00000505438.1:n.*638A>G
ENST00000681730.1:n.1405A>G
ENST00000681790.1:c.925A>G	ENSP00000505130.1:p.Lys309Glu
ENST00000681837.1:n.1799A>G
ENST00000681913.1:n.3429A>G
ENST00000681916.1:c.*951A>G	ENSP00000506477.1:n.*951A>G
ENST00000681930.1:n.3307A>G
ENST00000370834.9:c.1282A>G	ENSP00000359871.5:p.Lys428Glu
ENST00000370841.8:c.1183A>G	ENSP00000359878.4:p.Lys395Glu
ENST00000420607.6:c.1195A>G	ENSP00000409612.2:p.Lys399Glu
ENST00000481374.1:n.456A>G
ENST00000525808.5:c.*769A>G	ENSP00000434823.1:n.*769A>G
ENST00000526129.5:c.*967A>G	ENSP00000434092.1:n.*967A>G
ENST00000526196.5:c.*951A>G	ENSP00000431953.1:n.*951A>G
ENST00000528016.1:c.160-7818A>G	ENSP00000434284.1:n.160-7818A>G
ENST00000529059.5:n.1092A>G
ENST00000541113.5:c.1075A>G	ENSP00000442324.1:p.Lys359Glu
NM_000016.5:c.1183A>G	NP_000007.1:p.Lys395Glu
NM_001127328.2:c.1195A>G	NP_001120800.1:p.Lys399Glu
NM_001286042.1:c.1075A>G	NP_001272971.1:p.Lys359Glu
NM_001286043.1:c.1282A>G	NP_001272972.1:p.Lys428Glu
NM_001286044.1:c.616A>G	NP_001272973.1:p.Lys206Glu
NM_000016.6:c.1183A>G MANE Select	NP_000007.1:p.Lys395Glu
NM_001127328.3:c.1195A>G	NP_001120800.1:p.Lys399Glu
NM_001286042.2:c.1075A>G	NP_001272971.1:p.Lys359Glu
NM_001286043.2:c.1282A>G	NP_001272972.1:p.Lys428Glu
NM_001286044.2:c.616A>G	NP_001272973.1:p.Lys206Glu