Canonical Allele Identifier: CA340818135

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226945G>C (hg19) ; chr1:g.75761260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761260G>C , CM000663.2:g.75761260G>C	GRCh38
NC_000001.10:g.76226945G>C , CM000663.1:g.76226945G>C	GRCh37
NC_000001.9:g.75999533G>C	NCBI36
NG_007045.2:g.41903G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1084G>C MANE Select	ENSP00000359878.5:p.Gly362Arg
ENST00000473018.3:n.3208G>C
ENST00000532207.6:n.2095G>C
ENST00000541113.6:c.988G>C	ENSP00000442324.2:p.Gly330Arg
ENST00000679509.1:n.2046G>C
ENST00000679530.1:c.*852G>C	ENSP00000506454.1:n.*852G>C
ENST00000679615.1:n.3099G>C
ENST00000679687.1:c.646G>C	ENSP00000506598.1:p.Gly216Arg
ENST00000679704.1:c.*850G>C	ENSP00000505117.1:n.*850G>C
ENST00000679709.1:c.*1047G>C	ENSP00000506623.1:n.*1047G>C
ENST00000679976.1:c.*668G>C	ENSP00000505565.1:n.*668G>C
ENST00000680166.1:n.4373G>C
ENST00000680315.1:n.967G>C
ENST00000680517.1:c.*472G>C	ENSP00000505803.1:n.*472G>C
ENST00000680582.1:n.2046G>C
ENST00000680613.1:c.*577G>C	ENSP00000506114.1:n.*577G>C
ENST00000680662.1:c.*998G>C	ENSP00000505080.1:n.*998G>C
ENST00000680691.1:c.*747G>C	ENSP00000506487.1:n.*747G>C
ENST00000680694.1:c.*672G>C	ENSP00000505658.1:n.*672G>C
ENST00000680743.1:c.*873G>C	ENSP00000505073.1:n.*873G>C
ENST00000680749.1:c.*369G>C	ENSP00000505122.1:n.*369G>C
ENST00000680798.1:c.*559G>C	ENSP00000505670.1:n.*559G>C
ENST00000680805.1:c.943G>C	ENSP00000505447.1:p.Gly315Arg
ENST00000680844.1:c.*868G>C	ENSP00000506541.1:n.*868G>C
ENST00000680948.1:c.*951G>C	ENSP00000505441.1:n.*951G>C
ENST00000680964.1:c.*177G>C	ENSP00000505961.1:n.*177G>C
ENST00000681037.1:c.*2568G>C	ENSP00000506025.1:n.*2568G>C
ENST00000681063.1:c.*353G>C	ENSP00000506616.1:n.*353G>C
ENST00000681209.1:c.*739G>C	ENSP00000505877.1:n.*739G>C
ENST00000681278.1:n.1786G>C
ENST00000681289.1:n.5079G>C
ENST00000681361.1:c.*751G>C	ENSP00000506679.1:n.*751G>C
ENST00000681430.1:c.*177G>C	ENSP00000506301.1:n.*177G>C
ENST00000681446.1:c.*788G>C	ENSP00000506244.1:n.*788G>C
ENST00000681450.1:c.*755G>C	ENSP00000505660.1:n.*755G>C
ENST00000681548.1:c.*670G>C	ENSP00000505275.1:n.*670G>C
ENST00000681616.1:c.*743G>C	ENSP00000505111.1:n.*743G>C
ENST00000681621.1:c.*668G>C	ENSP00000505770.1:n.*668G>C
ENST00000681680.1:n.3179G>C
ENST00000681720.1:c.*539G>C	ENSP00000505438.1:n.*539G>C
ENST00000681730.1:n.1306G>C
ENST00000681790.1:c.826G>C	ENSP00000505130.1:p.Gly276Arg
ENST00000681837.1:n.1700G>C
ENST00000681913.1:n.3330G>C
ENST00000681916.1:c.*852G>C	ENSP00000506477.1:n.*852G>C
ENST00000681930.1:n.3208G>C
ENST00000370834.9:c.1183G>C	ENSP00000359871.5:p.Gly395Arg
ENST00000370841.8:c.1084G>C	ENSP00000359878.4:p.Gly362Arg
ENST00000420607.6:c.1096G>C	ENSP00000409612.2:p.Gly366Arg
ENST00000481374.1:n.357G>C
ENST00000525808.5:c.*670G>C	ENSP00000434823.1:n.*670G>C
ENST00000526129.5:c.*868G>C	ENSP00000434092.1:n.*868G>C
ENST00000526196.5:c.*852G>C	ENSP00000431953.1:n.*852G>C
ENST00000528016.1:c.160-7917G>C	ENSP00000434284.1:n.160-7917G>C
ENST00000529059.5:n.993G>C
ENST00000541113.5:c.976G>C	ENSP00000442324.1:p.Gly326Arg
NM_000016.5:c.1084G>C	NP_000007.1:p.Gly362Arg
NM_001127328.2:c.1096G>C	NP_001120800.1:p.Gly366Arg
NM_001286042.1:c.976G>C	NP_001272971.1:p.Gly326Arg
NM_001286043.1:c.1183G>C	NP_001272972.1:p.Gly395Arg
NM_001286044.1:c.517G>C	NP_001272973.1:p.Gly173Arg
NM_000016.6:c.1084G>C MANE Select	NP_000007.1:p.Gly362Arg
NM_001127328.3:c.1096G>C	NP_001120800.1:p.Gly366Arg
NM_001286042.2:c.976G>C	NP_001272971.1:p.Gly326Arg
NM_001286043.2:c.1183G>C	NP_001272972.1:p.Gly395Arg
NM_001286044.2:c.517G>C	NP_001272973.1:p.Gly173Arg