Canonical Allele Identifier: CA418707669

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1647471
• ClinVar RCV Id: RCV002153731
• dbSNP Id: rs2100453395
• MyVariant Identifiers: chr1:g.76226947A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761262A>C , CM000663.2:g.75761262A>C	GRCh38
NC_000001.10:g.76226947A>C , CM000663.1:g.76226947A>C	GRCh37
NC_000001.9:g.75999535A>C	NCBI36
NG_007045.2:g.41905A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1086A>C MANE Select	ENSP00000359878.5:p.Gly362=
ENST00000473018.3:n.3210A>C
ENST00000532207.6:n.2097A>C
ENST00000541113.6:c.990A>C	ENSP00000442324.2:p.Gly330=
ENST00000679509.1:n.2048A>C
ENST00000679530.1:c.*854A>C	ENSP00000506454.1:n.*854A>C
ENST00000679615.1:n.3101A>C
ENST00000679687.1:c.648A>C	ENSP00000506598.1:p.Gly216=
ENST00000679704.1:c.*852A>C	ENSP00000505117.1:n.*852A>C
ENST00000679709.1:c.*1049A>C	ENSP00000506623.1:n.*1049A>C
ENST00000679976.1:c.*670A>C	ENSP00000505565.1:n.*670A>C
ENST00000680166.1:n.4375A>C
ENST00000680315.1:n.969A>C
ENST00000680517.1:c.*474A>C	ENSP00000505803.1:n.*474A>C
ENST00000680582.1:n.2048A>C
ENST00000680613.1:c.*579A>C	ENSP00000506114.1:n.*579A>C
ENST00000680662.1:c.*1000A>C	ENSP00000505080.1:n.*1000A>C
ENST00000680691.1:c.*749A>C	ENSP00000506487.1:n.*749A>C
ENST00000680694.1:c.*674A>C	ENSP00000505658.1:n.*674A>C
ENST00000680743.1:c.*875A>C	ENSP00000505073.1:n.*875A>C
ENST00000680749.1:c.*371A>C	ENSP00000505122.1:n.*371A>C
ENST00000680798.1:c.*561A>C	ENSP00000505670.1:n.*561A>C
ENST00000680805.1:c.945A>C	ENSP00000505447.1:p.Gly315=
ENST00000680844.1:c.*870A>C	ENSP00000506541.1:n.*870A>C
ENST00000680948.1:c.*953A>C	ENSP00000505441.1:n.*953A>C
ENST00000680964.1:c.*179A>C	ENSP00000505961.1:n.*179A>C
ENST00000681037.1:c.*2570A>C	ENSP00000506025.1:n.*2570A>C
ENST00000681063.1:c.*355A>C	ENSP00000506616.1:n.*355A>C
ENST00000681209.1:c.*741A>C	ENSP00000505877.1:n.*741A>C
ENST00000681278.1:n.1788A>C
ENST00000681289.1:n.5081A>C
ENST00000681361.1:c.*753A>C	ENSP00000506679.1:n.*753A>C
ENST00000681430.1:c.*179A>C	ENSP00000506301.1:n.*179A>C
ENST00000681446.1:c.*790A>C	ENSP00000506244.1:n.*790A>C
ENST00000681450.1:c.*757A>C	ENSP00000505660.1:n.*757A>C
ENST00000681548.1:c.*672A>C	ENSP00000505275.1:n.*672A>C
ENST00000681616.1:c.*745A>C	ENSP00000505111.1:n.*745A>C
ENST00000681621.1:c.*670A>C	ENSP00000505770.1:n.*670A>C
ENST00000681680.1:n.3181A>C
ENST00000681720.1:c.*541A>C	ENSP00000505438.1:n.*541A>C
ENST00000681730.1:n.1308A>C
ENST00000681790.1:c.828A>C	ENSP00000505130.1:p.Gly276=
ENST00000681837.1:n.1702A>C
ENST00000681913.1:n.3332A>C
ENST00000681916.1:c.*854A>C	ENSP00000506477.1:n.*854A>C
ENST00000681930.1:n.3210A>C
ENST00000370834.9:c.1185A>C	ENSP00000359871.5:p.Gly395=
ENST00000370841.8:c.1086A>C	ENSP00000359878.4:p.Gly362=
ENST00000420607.6:c.1098A>C	ENSP00000409612.2:p.Gly366=
ENST00000481374.1:n.359A>C
ENST00000525808.5:c.*672A>C	ENSP00000434823.1:n.*672A>C
ENST00000526129.5:c.*870A>C	ENSP00000434092.1:n.*870A>C
ENST00000526196.5:c.*854A>C	ENSP00000431953.1:n.*854A>C
ENST00000528016.1:c.160-7915A>C	ENSP00000434284.1:n.160-7915A>C
ENST00000529059.5:n.995A>C
ENST00000541113.5:c.978A>C	ENSP00000442324.1:p.Gly326=
NM_000016.5:c.1086A>C	NP_000007.1:p.Gly362=
NM_001127328.2:c.1098A>C	NP_001120800.1:p.Gly366=
NM_001286042.1:c.978A>C	NP_001272971.1:p.Gly326=
NM_001286043.1:c.1185A>C	NP_001272972.1:p.Gly395=
NM_001286044.1:c.519A>C	NP_001272973.1:p.Gly173=
NM_000016.6:c.1086A>C MANE Select	NP_000007.1:p.Gly362=
NM_001127328.3:c.1098A>C	NP_001120800.1:p.Gly366=
NM_001286042.2:c.978A>C	NP_001272971.1:p.Gly326=
NM_001286043.2:c.1185A>C	NP_001272972.1:p.Gly395=
NM_001286044.2:c.519A>C	NP_001272973.1:p.Gly173=