Canonical Allele Identifier: CA340817990

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226876A>T (hg19) ; chr1:g.75761191A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761191A>T , CM000663.2:g.75761191A>T	GRCh38
NC_000001.10:g.76226876A>T , CM000663.1:g.76226876A>T	GRCh37
NC_000001.9:g.75999464A>T	NCBI36
NG_007045.2:g.41834A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1015A>T MANE Select	ENSP00000359878.5:p.Arg339Ter
ENST00000473018.3:n.3139A>T
ENST00000532207.6:n.2026A>T
ENST00000541113.6:c.919A>T	ENSP00000442324.2:p.Arg307Ter
ENST00000679509.1:n.1977A>T
ENST00000679530.1:c.*783A>T	ENSP00000506454.1:n.*783A>T
ENST00000679615.1:n.3030A>T
ENST00000679687.1:c.577A>T	ENSP00000506598.1:p.Arg193Ter
ENST00000679704.1:c.*781A>T	ENSP00000505117.1:n.*781A>T
ENST00000679709.1:c.*978A>T	ENSP00000506623.1:n.*978A>T
ENST00000679976.1:c.*599A>T	ENSP00000505565.1:n.*599A>T
ENST00000680166.1:n.4304A>T
ENST00000680315.1:n.898A>T
ENST00000680517.1:c.*403A>T	ENSP00000505803.1:n.*403A>T
ENST00000680582.1:n.1977A>T
ENST00000680613.1:c.*508A>T	ENSP00000506114.1:n.*508A>T
ENST00000680662.1:c.*929A>T	ENSP00000505080.1:n.*929A>T
ENST00000680691.1:c.*678A>T	ENSP00000506487.1:n.*678A>T
ENST00000680694.1:c.*603A>T	ENSP00000505658.1:n.*603A>T
ENST00000680743.1:c.*804A>T	ENSP00000505073.1:n.*804A>T
ENST00000680749.1:c.*300A>T	ENSP00000505122.1:n.*300A>T
ENST00000680798.1:c.*490A>T	ENSP00000505670.1:n.*490A>T
ENST00000680805.1:c.874A>T	ENSP00000505447.1:p.Arg292Ter
ENST00000680844.1:c.*799A>T	ENSP00000506541.1:n.*799A>T
ENST00000680948.1:c.*882A>T	ENSP00000505441.1:n.*882A>T
ENST00000680964.1:c.*108A>T	ENSP00000505961.1:n.*108A>T
ENST00000681037.1:c.*2499A>T	ENSP00000506025.1:n.*2499A>T
ENST00000681063.1:c.*284A>T	ENSP00000506616.1:n.*284A>T
ENST00000681209.1:c.*670A>T	ENSP00000505877.1:n.*670A>T
ENST00000681278.1:n.1717A>T
ENST00000681289.1:n.5010A>T
ENST00000681361.1:c.*682A>T	ENSP00000506679.1:n.*682A>T
ENST00000681430.1:c.*108A>T	ENSP00000506301.1:n.*108A>T
ENST00000681446.1:c.*719A>T	ENSP00000506244.1:n.*719A>T
ENST00000681450.1:c.*686A>T	ENSP00000505660.1:n.*686A>T
ENST00000681548.1:c.*601A>T	ENSP00000505275.1:n.*601A>T
ENST00000681616.1:c.*674A>T	ENSP00000505111.1:n.*674A>T
ENST00000681621.1:c.*599A>T	ENSP00000505770.1:n.*599A>T
ENST00000681680.1:n.3110A>T
ENST00000681720.1:c.*470A>T	ENSP00000505438.1:n.*470A>T
ENST00000681730.1:n.1237A>T
ENST00000681790.1:c.757A>T	ENSP00000505130.1:p.Arg253Ter
ENST00000681837.1:n.1631A>T
ENST00000681913.1:n.3261A>T
ENST00000681916.1:c.*783A>T	ENSP00000506477.1:n.*783A>T
ENST00000681930.1:n.3139A>T
ENST00000370834.9:c.1114A>T	ENSP00000359871.5:p.Arg372Ter
ENST00000370841.8:c.1015A>T	ENSP00000359878.4:p.Arg339Ter
ENST00000420607.6:c.1027A>T	ENSP00000409612.2:p.Arg343Ter
ENST00000481374.1:n.288A>T
ENST00000525808.5:c.*601A>T	ENSP00000434823.1:n.*601A>T
ENST00000526129.5:c.*799A>T	ENSP00000434092.1:n.*799A>T
ENST00000526196.5:c.*783A>T	ENSP00000431953.1:n.*783A>T
ENST00000528016.1:c.160-7986A>T	ENSP00000434284.1:n.160-7986A>T
ENST00000529059.5:n.924A>T
ENST00000532207.5:n.745A>T
ENST00000534334.5:c.*756A>T	ENSP00000435584.1:n.*756A>T
ENST00000541113.5:c.907A>T	ENSP00000442324.1:p.Arg303Ter
NM_000016.5:c.1015A>T	NP_000007.1:p.Arg339Ter
NM_001127328.2:c.1027A>T	NP_001120800.1:p.Arg343Ter
NM_001286042.1:c.907A>T	NP_001272971.1:p.Arg303Ter
NM_001286043.1:c.1114A>T	NP_001272972.1:p.Arg372Ter
NM_001286044.1:c.448A>T	NP_001272973.1:p.Arg150Ter
NM_000016.6:c.1015A>T MANE Select	NP_000007.1:p.Arg339Ter
NM_001127328.3:c.1027A>T	NP_001120800.1:p.Arg343Ter
NM_001286042.2:c.907A>T	NP_001272971.1:p.Arg303Ter
NM_001286043.2:c.1114A>T	NP_001272972.1:p.Arg372Ter
NM_001286044.2:c.448A>T	NP_001272973.1:p.Arg150Ter