Canonical Allele Identifier: CA418707720

Gene: ACADM

Linked Data

• dbSNP Id: rs144707412
• gnomAD v2: 1-76226977-T-C
• gnomAD v4: 1-75761292-T-C
• MyVariant Identifiers: chr1:g.76226977T>C (hg19) ; chr1:g.75761292T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761292T>C , CM000663.2:g.75761292T>C	GRCh38
NC_000001.10:g.76226977T>C , CM000663.1:g.76226977T>C	GRCh37
NC_000001.9:g.75999565T>C	NCBI36
NG_007045.2:g.41935T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1116T>C MANE Select	ENSP00000359878.5:p.Ala372=
ENST00000473018.3:n.3240T>C
ENST00000532207.6:n.2127T>C
ENST00000541113.6:c.1020T>C	ENSP00000442324.2:p.Ala340=
ENST00000679509.1:n.2078T>C
ENST00000679530.1:c.*884T>C	ENSP00000506454.1:n.*884T>C
ENST00000679615.1:n.3131T>C
ENST00000679687.1:c.678T>C	ENSP00000506598.1:p.Ala226=
ENST00000679704.1:c.*882T>C	ENSP00000505117.1:n.*882T>C
ENST00000679709.1:c.*1079T>C	ENSP00000506623.1:n.*1079T>C
ENST00000679976.1:c.*700T>C	ENSP00000505565.1:n.*700T>C
ENST00000680166.1:n.4405T>C
ENST00000680315.1:n.999T>C
ENST00000680517.1:c.*504T>C	ENSP00000505803.1:n.*504T>C
ENST00000680582.1:n.2078T>C
ENST00000680613.1:c.*609T>C	ENSP00000506114.1:n.*609T>C
ENST00000680662.1:c.*1030T>C	ENSP00000505080.1:n.*1030T>C
ENST00000680691.1:c.*779T>C	ENSP00000506487.1:n.*779T>C
ENST00000680694.1:c.*704T>C	ENSP00000505658.1:n.*704T>C
ENST00000680743.1:c.*905T>C	ENSP00000505073.1:n.*905T>C
ENST00000680749.1:c.*401T>C	ENSP00000505122.1:n.*401T>C
ENST00000680798.1:c.*591T>C	ENSP00000505670.1:n.*591T>C
ENST00000680805.1:c.975T>C	ENSP00000505447.1:p.Ala325=
ENST00000680844.1:c.*900T>C	ENSP00000506541.1:n.*900T>C
ENST00000680948.1:c.*983T>C	ENSP00000505441.1:n.*983T>C
ENST00000680964.1:c.*209T>C	ENSP00000505961.1:n.*209T>C
ENST00000681037.1:c.*2600T>C	ENSP00000506025.1:n.*2600T>C
ENST00000681063.1:c.*385T>C	ENSP00000506616.1:n.*385T>C
ENST00000681209.1:c.*771T>C	ENSP00000505877.1:n.*771T>C
ENST00000681278.1:n.1818T>C
ENST00000681289.1:n.5111T>C
ENST00000681361.1:c.*783T>C	ENSP00000506679.1:n.*783T>C
ENST00000681430.1:c.*209T>C	ENSP00000506301.1:n.*209T>C
ENST00000681446.1:c.*820T>C	ENSP00000506244.1:n.*820T>C
ENST00000681450.1:c.*787T>C	ENSP00000505660.1:n.*787T>C
ENST00000681548.1:c.*702T>C	ENSP00000505275.1:n.*702T>C
ENST00000681616.1:c.*775T>C	ENSP00000505111.1:n.*775T>C
ENST00000681621.1:c.*700T>C	ENSP00000505770.1:n.*700T>C
ENST00000681680.1:n.3211T>C
ENST00000681720.1:c.*571T>C	ENSP00000505438.1:n.*571T>C
ENST00000681730.1:n.1338T>C
ENST00000681790.1:c.858T>C	ENSP00000505130.1:p.Ala286=
ENST00000681837.1:n.1732T>C
ENST00000681913.1:n.3362T>C
ENST00000681916.1:c.*884T>C	ENSP00000506477.1:n.*884T>C
ENST00000681930.1:n.3240T>C
ENST00000370834.9:c.1215T>C	ENSP00000359871.5:p.Ala405=
ENST00000370841.8:c.1116T>C	ENSP00000359878.4:p.Ala372=
ENST00000420607.6:c.1128T>C	ENSP00000409612.2:p.Ala376=
ENST00000481374.1:n.389T>C
ENST00000525808.5:c.*702T>C	ENSP00000434823.1:n.*702T>C
ENST00000526129.5:c.*900T>C	ENSP00000434092.1:n.*900T>C
ENST00000526196.5:c.*884T>C	ENSP00000431953.1:n.*884T>C
ENST00000528016.1:c.160-7885T>C	ENSP00000434284.1:n.160-7885T>C
ENST00000529059.5:n.1025T>C
ENST00000541113.5:c.1008T>C	ENSP00000442324.1:p.Ala336=
NM_000016.5:c.1116T>C	NP_000007.1:p.Ala372=
NM_001127328.2:c.1128T>C	NP_001120800.1:p.Ala376=
NM_001286042.1:c.1008T>C	NP_001272971.1:p.Ala336=
NM_001286043.1:c.1215T>C	NP_001272972.1:p.Ala405=
NM_001286044.1:c.549T>C	NP_001272973.1:p.Ala183=
NM_000016.6:c.1116T>C MANE Select	NP_000007.1:p.Ala372=
NM_001127328.3:c.1128T>C	NP_001120800.1:p.Ala376=
NM_001286042.2:c.1008T>C	NP_001272971.1:p.Ala336=
NM_001286043.2:c.1215T>C	NP_001272972.1:p.Ala405=
NM_001286044.2:c.549T>C	NP_001272973.1:p.Ala183=