Canonical Allele Identifier: CA340818305

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227026A>C (hg19) ; chr1:g.75761341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761341A>C , CM000663.2:g.75761341A>C	GRCh38
NC_000001.10:g.76227026A>C , CM000663.1:g.76227026A>C	GRCh37
NC_000001.9:g.75999614A>C	NCBI36
NG_007045.2:g.41984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1165A>C MANE Select	ENSP00000359878.5:p.Lys389Gln
ENST00000473018.3:n.3289A>C
ENST00000532207.6:n.2176A>C
ENST00000541113.6:c.1069A>C	ENSP00000442324.2:p.Lys357Gln
ENST00000679509.1:n.2127A>C
ENST00000679530.1:c.*933A>C	ENSP00000506454.1:n.*933A>C
ENST00000679615.1:n.3180A>C
ENST00000679687.1:c.727A>C	ENSP00000506598.1:p.Lys243Gln
ENST00000679704.1:c.*931A>C	ENSP00000505117.1:n.*931A>C
ENST00000679709.1:c.*1128A>C	ENSP00000506623.1:n.*1128A>C
ENST00000679976.1:c.*749A>C	ENSP00000505565.1:n.*749A>C
ENST00000680166.1:n.4454A>C
ENST00000680315.1:n.1048A>C
ENST00000680517.1:c.*553A>C	ENSP00000505803.1:n.*553A>C
ENST00000680582.1:n.2127A>C
ENST00000680613.1:c.*658A>C	ENSP00000506114.1:n.*658A>C
ENST00000680662.1:c.*1079A>C	ENSP00000505080.1:n.*1079A>C
ENST00000680691.1:c.*828A>C	ENSP00000506487.1:n.*828A>C
ENST00000680694.1:c.*753A>C	ENSP00000505658.1:n.*753A>C
ENST00000680743.1:c.*954A>C	ENSP00000505073.1:n.*954A>C
ENST00000680749.1:c.*450A>C	ENSP00000505122.1:n.*450A>C
ENST00000680798.1:c.*640A>C	ENSP00000505670.1:n.*640A>C
ENST00000680805.1:c.1024A>C	ENSP00000505447.1:p.Lys342Gln
ENST00000680844.1:c.*949A>C	ENSP00000506541.1:n.*949A>C
ENST00000680948.1:c.*1032A>C	ENSP00000505441.1:n.*1032A>C
ENST00000680964.1:c.*258A>C	ENSP00000505961.1:n.*258A>C
ENST00000681037.1:c.*2649A>C	ENSP00000506025.1:n.*2649A>C
ENST00000681063.1:c.*434A>C	ENSP00000506616.1:n.*434A>C
ENST00000681209.1:c.*820A>C	ENSP00000505877.1:n.*820A>C
ENST00000681278.1:n.1867A>C
ENST00000681289.1:n.5160A>C
ENST00000681361.1:c.*832A>C	ENSP00000506679.1:n.*832A>C
ENST00000681430.1:c.*258A>C	ENSP00000506301.1:n.*258A>C
ENST00000681446.1:c.*869A>C	ENSP00000506244.1:n.*869A>C
ENST00000681450.1:c.*836A>C	ENSP00000505660.1:n.*836A>C
ENST00000681548.1:c.*751A>C	ENSP00000505275.1:n.*751A>C
ENST00000681616.1:c.*824A>C	ENSP00000505111.1:n.*824A>C
ENST00000681621.1:c.*749A>C	ENSP00000505770.1:n.*749A>C
ENST00000681680.1:n.3260A>C
ENST00000681720.1:c.*620A>C	ENSP00000505438.1:n.*620A>C
ENST00000681730.1:n.1387A>C
ENST00000681790.1:c.907A>C	ENSP00000505130.1:p.Lys303Gln
ENST00000681837.1:n.1781A>C
ENST00000681913.1:n.3411A>C
ENST00000681916.1:c.*933A>C	ENSP00000506477.1:n.*933A>C
ENST00000681930.1:n.3289A>C
ENST00000370834.9:c.1264A>C	ENSP00000359871.5:p.Lys422Gln
ENST00000370841.8:c.1165A>C	ENSP00000359878.4:p.Lys389Gln
ENST00000420607.6:c.1177A>C	ENSP00000409612.2:p.Lys393Gln
ENST00000481374.1:n.438A>C
ENST00000525808.5:c.*751A>C	ENSP00000434823.1:n.*751A>C
ENST00000526129.5:c.*949A>C	ENSP00000434092.1:n.*949A>C
ENST00000526196.5:c.*933A>C	ENSP00000431953.1:n.*933A>C
ENST00000528016.1:c.160-7836A>C	ENSP00000434284.1:n.160-7836A>C
ENST00000529059.5:n.1074A>C
ENST00000541113.5:c.1057A>C	ENSP00000442324.1:p.Lys353Gln
NM_000016.5:c.1165A>C	NP_000007.1:p.Lys389Gln
NM_001127328.2:c.1177A>C	NP_001120800.1:p.Lys393Gln
NM_001286042.1:c.1057A>C	NP_001272971.1:p.Lys353Gln
NM_001286043.1:c.1264A>C	NP_001272972.1:p.Lys422Gln
NM_001286044.1:c.598A>C	NP_001272973.1:p.Lys200Gln
NM_000016.6:c.1165A>C MANE Select	NP_000007.1:p.Lys389Gln
NM_001127328.3:c.1177A>C	NP_001120800.1:p.Lys393Gln
NM_001286042.2:c.1057A>C	NP_001272971.1:p.Lys353Gln
NM_001286043.2:c.1264A>C	NP_001272972.1:p.Lys422Gln
NM_001286044.2:c.598A>C	NP_001272973.1:p.Lys200Gln