Canonical Allele Identifier: CA340817008

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216167G>T (hg19) ; chr1:g.75750482G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750482G>T , CM000663.2:g.75750482G>T	GRCh38
NC_000001.10:g.76216167G>T , CM000663.1:g.76216167G>T	GRCh37
NC_000001.9:g.75988755G>T	NCBI36
NG_007045.2:g.31125G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.881G>T MANE Select	ENSP00000359878.5:p.Arg294Ile
ENST00000473018.3:n.3005G>T
ENST00000532207.6:n.1770G>T
ENST00000541113.6:c.849+923G>T	ENSP00000442324.2:n.849+923G>T
ENST00000679509.1:n.1843G>T
ENST00000679530.1:c.*649G>T	ENSP00000506454.1:n.*649G>T
ENST00000679615.1:n.2896G>T
ENST00000679687.1:c.443G>T	ENSP00000506598.1:p.Arg148Ile
ENST00000679704.1:c.*647G>T	ENSP00000505117.1:n.*647G>T
ENST00000679709.1:c.*844G>T	ENSP00000506623.1:n.*844G>T
ENST00000679976.1:c.*465G>T	ENSP00000505565.1:n.*465G>T
ENST00000680166.1:n.4170G>T
ENST00000680315.1:n.764G>T
ENST00000680517.1:c.*269G>T	ENSP00000505803.1:n.*269G>T
ENST00000680582.1:n.1843G>T
ENST00000680613.1:c.*252G>T	ENSP00000506114.1:n.*252G>T
ENST00000680662.1:c.*795G>T	ENSP00000505080.1:n.*795G>T
ENST00000680691.1:c.*544G>T	ENSP00000506487.1:n.*544G>T
ENST00000680694.1:c.*469G>T	ENSP00000505658.1:n.*469G>T
ENST00000680743.1:c.*548G>T	ENSP00000505073.1:n.*548G>T
ENST00000680749.1:c.*166G>T	ENSP00000505122.1:n.*166G>T
ENST00000680798.1:c.*356G>T	ENSP00000505670.1:n.*356G>T
ENST00000680805.1:c.740G>T	ENSP00000505447.1:p.Arg247Ile
ENST00000680844.1:c.*665G>T	ENSP00000506541.1:n.*665G>T
ENST00000680948.1:c.*748G>T	ENSP00000505441.1:n.*748G>T
ENST00000680964.1:c.881G>T	ENSP00000505961.1:p.Arg294Ile
ENST00000681037.1:c.*2365G>T	ENSP00000506025.1:n.*2365G>T
ENST00000681063.1:c.*28G>T	ENSP00000506616.1:n.*28G>T
ENST00000681209.1:c.*536G>T	ENSP00000505877.1:n.*536G>T
ENST00000681278.1:n.1238G>T
ENST00000681289.1:n.4876G>T
ENST00000681361.1:c.*548G>T	ENSP00000506679.1:n.*548G>T
ENST00000681430.1:c.881G>T	ENSP00000506301.1:p.Arg294Ile
ENST00000681446.1:c.*463G>T	ENSP00000506244.1:n.*463G>T
ENST00000681450.1:c.*552G>T	ENSP00000505660.1:n.*552G>T
ENST00000681548.1:c.*467G>T	ENSP00000505275.1:n.*467G>T
ENST00000681616.1:c.*540G>T	ENSP00000505111.1:n.*540G>T
ENST00000681621.1:c.*465G>T	ENSP00000505770.1:n.*465G>T
ENST00000681680.1:n.2976G>T
ENST00000681720.1:c.*336G>T	ENSP00000505438.1:n.*336G>T
ENST00000681730.1:n.1103G>T
ENST00000681790.1:c.623G>T	ENSP00000505130.1:p.Arg208Ile
ENST00000681837.1:n.1497G>T
ENST00000681913.1:n.3005G>T
ENST00000681916.1:c.*649G>T	ENSP00000506477.1:n.*649G>T
ENST00000681930.1:n.3005G>T
ENST00000370834.9:c.980G>T	ENSP00000359871.5:p.Arg327Ile
ENST00000370841.8:c.881G>T	ENSP00000359878.4:p.Arg294Ile
ENST00000420607.6:c.893G>T	ENSP00000409612.2:p.Arg298Ile
ENST00000481374.1:n.32G>T
ENST00000525808.5:c.*467G>T	ENSP00000434823.1:n.*467G>T
ENST00000526129.5:c.*665G>T	ENSP00000434092.1:n.*665G>T
ENST00000526196.5:c.*649G>T	ENSP00000431953.1:n.*649G>T
ENST00000528016.1:c.95G>T	ENSP00000434284.1:p.Arg32Ile
ENST00000529059.5:n.790G>T
ENST00000532207.5:n.611G>T
ENST00000534334.5:c.*465G>T	ENSP00000435584.1:n.*465G>T
ENST00000541113.5:c.773G>T	ENSP00000442324.1:p.Arg258Ile
NM_000016.5:c.881G>T	NP_000007.1:p.Arg294Ile
NM_001127328.2:c.893G>T	NP_001120800.1:p.Arg298Ile
NM_001286042.1:c.773G>T	NP_001272971.1:p.Arg258Ile
NM_001286043.1:c.980G>T	NP_001272972.1:p.Arg327Ile
NM_001286044.1:c.314G>T	NP_001272973.1:p.Arg105Ile
NM_000016.6:c.881G>T MANE Select	NP_000007.1:p.Arg294Ile
NM_001127328.3:c.893G>T	NP_001120800.1:p.Arg298Ile
NM_001286042.2:c.773G>T	NP_001272971.1:p.Arg258Ile
NM_001286043.2:c.980G>T	NP_001272972.1:p.Arg327Ile
NM_001286044.2:c.314G>T	NP_001272973.1:p.Arg105Ile