Canonical Allele Identifier: CA16042330

Gene: ACADM

Linked Data

• ClinVar Variation Id: 373816
• ClinVar RCV Id: RCV003298424
• dbSNP Id: rs1057518630
• gnomAD v4: 1-75761335-G-C
• MyVariant Identifiers: chr1:g.76227020G>C (hg19) ; chr1:g.75761335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761335G>C , CM000663.2:g.75761335G>C	GRCh38
NC_000001.10:g.76227020G>C , CM000663.1:g.76227020G>C	GRCh37
NC_000001.9:g.75999608G>C	NCBI36
NG_007045.2:g.41978G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1159G>C MANE Select	ENSP00000359878.5:p.Val387Leu
ENST00000473018.3:n.3283G>C
ENST00000532207.6:n.2170G>C
ENST00000541113.6:c.1063G>C	ENSP00000442324.2:p.Val355Leu
ENST00000679509.1:n.2121G>C
ENST00000679530.1:c.*927G>C	ENSP00000506454.1:n.*927G>C
ENST00000679615.1:n.3174G>C
ENST00000679687.1:c.721G>C	ENSP00000506598.1:p.Val241Leu
ENST00000679704.1:c.*925G>C	ENSP00000505117.1:n.*925G>C
ENST00000679709.1:c.*1122G>C	ENSP00000506623.1:n.*1122G>C
ENST00000679976.1:c.*743G>C	ENSP00000505565.1:n.*743G>C
ENST00000680166.1:n.4448G>C
ENST00000680315.1:n.1042G>C
ENST00000680517.1:c.*547G>C	ENSP00000505803.1:n.*547G>C
ENST00000680582.1:n.2121G>C
ENST00000680613.1:c.*652G>C	ENSP00000506114.1:n.*652G>C
ENST00000680662.1:c.*1073G>C	ENSP00000505080.1:n.*1073G>C
ENST00000680691.1:c.*822G>C	ENSP00000506487.1:n.*822G>C
ENST00000680694.1:c.*747G>C	ENSP00000505658.1:n.*747G>C
ENST00000680743.1:c.*948G>C	ENSP00000505073.1:n.*948G>C
ENST00000680749.1:c.*444G>C	ENSP00000505122.1:n.*444G>C
ENST00000680798.1:c.*634G>C	ENSP00000505670.1:n.*634G>C
ENST00000680805.1:c.1018G>C	ENSP00000505447.1:p.Val340Leu
ENST00000680844.1:c.*943G>C	ENSP00000506541.1:n.*943G>C
ENST00000680948.1:c.*1026G>C	ENSP00000505441.1:n.*1026G>C
ENST00000680964.1:c.*252G>C	ENSP00000505961.1:n.*252G>C
ENST00000681037.1:c.*2643G>C	ENSP00000506025.1:n.*2643G>C
ENST00000681063.1:c.*428G>C	ENSP00000506616.1:n.*428G>C
ENST00000681209.1:c.*814G>C	ENSP00000505877.1:n.*814G>C
ENST00000681278.1:n.1861G>C
ENST00000681289.1:n.5154G>C
ENST00000681361.1:c.*826G>C	ENSP00000506679.1:n.*826G>C
ENST00000681430.1:c.*252G>C	ENSP00000506301.1:n.*252G>C
ENST00000681446.1:c.*863G>C	ENSP00000506244.1:n.*863G>C
ENST00000681450.1:c.*830G>C	ENSP00000505660.1:n.*830G>C
ENST00000681548.1:c.*745G>C	ENSP00000505275.1:n.*745G>C
ENST00000681616.1:c.*818G>C	ENSP00000505111.1:n.*818G>C
ENST00000681621.1:c.*743G>C	ENSP00000505770.1:n.*743G>C
ENST00000681680.1:n.3254G>C
ENST00000681720.1:c.*614G>C	ENSP00000505438.1:n.*614G>C
ENST00000681730.1:n.1381G>C
ENST00000681790.1:c.901G>C	ENSP00000505130.1:p.Val301Leu
ENST00000681837.1:n.1775G>C
ENST00000681913.1:n.3405G>C
ENST00000681916.1:c.*927G>C	ENSP00000506477.1:n.*927G>C
ENST00000681930.1:n.3283G>C
ENST00000370834.9:c.1258G>C	ENSP00000359871.5:p.Val420Leu
ENST00000370841.8:c.1159G>C	ENSP00000359878.4:p.Val387Leu
ENST00000420607.6:c.1171G>C	ENSP00000409612.2:p.Val391Leu
ENST00000481374.1:n.432G>C
ENST00000525808.5:c.*745G>C	ENSP00000434823.1:n.*745G>C
ENST00000526129.5:c.*943G>C	ENSP00000434092.1:n.*943G>C
ENST00000526196.5:c.*927G>C	ENSP00000431953.1:n.*927G>C
ENST00000528016.1:c.160-7842G>C	ENSP00000434284.1:n.160-7842G>C
ENST00000529059.5:n.1068G>C
ENST00000541113.5:c.1051G>C	ENSP00000442324.1:p.Val351Leu
NM_000016.5:c.1159G>C	NP_000007.1:p.Val387Leu
NM_001127328.2:c.1171G>C	NP_001120800.1:p.Val391Leu
NM_001286042.1:c.1051G>C	NP_001272971.1:p.Val351Leu
NM_001286043.1:c.1258G>C	NP_001272972.1:p.Val420Leu
NM_001286044.1:c.592G>C	NP_001272973.1:p.Val198Leu
NM_000016.6:c.1159G>C MANE Select	NP_000007.1:p.Val387Leu
NM_001127328.3:c.1171G>C	NP_001120800.1:p.Val391Leu
NM_001286042.2:c.1051G>C	NP_001272971.1:p.Val351Leu
NM_001286043.2:c.1258G>C	NP_001272972.1:p.Val420Leu
NM_001286044.2:c.592G>C	NP_001272973.1:p.Val198Leu