Canonical Allele Identifier: CA340818048

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226903C>G (hg19) ; chr1:g.75761218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761218C>G , CM000663.2:g.75761218C>G	GRCh38
NC_000001.10:g.76226903C>G , CM000663.1:g.76226903C>G	GRCh37
NC_000001.9:g.75999491C>G	NCBI36
NG_007045.2:g.41861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1042C>G MANE Select	ENSP00000359878.5:p.Arg348Gly
ENST00000473018.3:n.3166C>G
ENST00000532207.6:n.2053C>G
ENST00000541113.6:c.946C>G	ENSP00000442324.2:p.Arg316Gly
ENST00000679509.1:n.2004C>G
ENST00000679530.1:c.*810C>G	ENSP00000506454.1:n.*810C>G
ENST00000679615.1:n.3057C>G
ENST00000679687.1:c.604C>G	ENSP00000506598.1:p.Arg202Gly
ENST00000679704.1:c.*808C>G	ENSP00000505117.1:n.*808C>G
ENST00000679709.1:c.*1005C>G	ENSP00000506623.1:n.*1005C>G
ENST00000679976.1:c.*626C>G	ENSP00000505565.1:n.*626C>G
ENST00000680166.1:n.4331C>G
ENST00000680315.1:n.925C>G
ENST00000680517.1:c.*430C>G	ENSP00000505803.1:n.*430C>G
ENST00000680582.1:n.2004C>G
ENST00000680613.1:c.*535C>G	ENSP00000506114.1:n.*535C>G
ENST00000680662.1:c.*956C>G	ENSP00000505080.1:n.*956C>G
ENST00000680691.1:c.*705C>G	ENSP00000506487.1:n.*705C>G
ENST00000680694.1:c.*630C>G	ENSP00000505658.1:n.*630C>G
ENST00000680743.1:c.*831C>G	ENSP00000505073.1:n.*831C>G
ENST00000680749.1:c.*327C>G	ENSP00000505122.1:n.*327C>G
ENST00000680798.1:c.*517C>G	ENSP00000505670.1:n.*517C>G
ENST00000680805.1:c.901C>G	ENSP00000505447.1:p.Arg301Gly
ENST00000680844.1:c.*826C>G	ENSP00000506541.1:n.*826C>G
ENST00000680948.1:c.*909C>G	ENSP00000505441.1:n.*909C>G
ENST00000680964.1:c.*135C>G	ENSP00000505961.1:n.*135C>G
ENST00000681037.1:c.*2526C>G	ENSP00000506025.1:n.*2526C>G
ENST00000681063.1:c.*311C>G	ENSP00000506616.1:n.*311C>G
ENST00000681209.1:c.*697C>G	ENSP00000505877.1:n.*697C>G
ENST00000681278.1:n.1744C>G
ENST00000681289.1:n.5037C>G
ENST00000681361.1:c.*709C>G	ENSP00000506679.1:n.*709C>G
ENST00000681430.1:c.*135C>G	ENSP00000506301.1:n.*135C>G
ENST00000681446.1:c.*746C>G	ENSP00000506244.1:n.*746C>G
ENST00000681450.1:c.*713C>G	ENSP00000505660.1:n.*713C>G
ENST00000681548.1:c.*628C>G	ENSP00000505275.1:n.*628C>G
ENST00000681616.1:c.*701C>G	ENSP00000505111.1:n.*701C>G
ENST00000681621.1:c.*626C>G	ENSP00000505770.1:n.*626C>G
ENST00000681680.1:n.3137C>G
ENST00000681720.1:c.*497C>G	ENSP00000505438.1:n.*497C>G
ENST00000681730.1:n.1264C>G
ENST00000681790.1:c.784C>G	ENSP00000505130.1:p.Arg262Gly
ENST00000681837.1:n.1658C>G
ENST00000681913.1:n.3288C>G
ENST00000681916.1:c.*810C>G	ENSP00000506477.1:n.*810C>G
ENST00000681930.1:n.3166C>G
ENST00000370834.9:c.1141C>G	ENSP00000359871.5:p.Arg381Gly
ENST00000370841.8:c.1042C>G	ENSP00000359878.4:p.Arg348Gly
ENST00000420607.6:c.1054C>G	ENSP00000409612.2:p.Arg352Gly
ENST00000481374.1:n.315C>G
ENST00000525808.5:c.*628C>G	ENSP00000434823.1:n.*628C>G
ENST00000526129.5:c.*826C>G	ENSP00000434092.1:n.*826C>G
ENST00000526196.5:c.*810C>G	ENSP00000431953.1:n.*810C>G
ENST00000528016.1:c.160-7959C>G	ENSP00000434284.1:n.160-7959C>G
ENST00000529059.5:n.951C>G
ENST00000534334.5:c.*783C>G	ENSP00000435584.1:n.*783C>G
ENST00000541113.5:c.934C>G	ENSP00000442324.1:p.Arg312Gly
NM_000016.5:c.1042C>G	NP_000007.1:p.Arg348Gly
NM_001127328.2:c.1054C>G	NP_001120800.1:p.Arg352Gly
NM_001286042.1:c.934C>G	NP_001272971.1:p.Arg312Gly
NM_001286043.1:c.1141C>G	NP_001272972.1:p.Arg381Gly
NM_001286044.1:c.475C>G	NP_001272973.1:p.Arg159Gly
NM_000016.6:c.1042C>G MANE Select	NP_000007.1:p.Arg348Gly
NM_001127328.3:c.1054C>G	NP_001120800.1:p.Arg352Gly
NM_001286042.2:c.934C>G	NP_001272971.1:p.Arg312Gly
NM_001286043.2:c.1141C>G	NP_001272972.1:p.Arg381Gly
NM_001286044.2:c.475C>G	NP_001272973.1:p.Arg159Gly