Canonical Allele Identifier: CA913277

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1198914
• ClinVar RCV Id: RCV001563236
• dbSNP Id: rs373057729
• ExAC: 1:76226979 T / C
• gnomAD v2: 1-76226979-T-C
• gnomAD v3: 1-75761294-T-C
• gnomAD v4: 1-75761294-T-C
• MyVariant Identifiers: chr1:g.76226979T>C (hg19) ; chr1:g.75761294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761294T>C , CM000663.2:g.75761294T>C	GRCh38
NC_000001.10:g.76226979T>C , CM000663.1:g.76226979T>C	GRCh37
NC_000001.9:g.75999567T>C	NCBI36
NG_007045.2:g.41937T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1118T>C MANE Select	ENSP00000359878.5:p.Val373Ala
ENST00000473018.3:n.3242T>C
ENST00000532207.6:n.2129T>C
ENST00000541113.6:c.1022T>C	ENSP00000442324.2:p.Val341Ala
ENST00000679509.1:n.2080T>C
ENST00000679530.1:c.*886T>C	ENSP00000506454.1:n.*886T>C
ENST00000679615.1:n.3133T>C
ENST00000679687.1:c.680T>C	ENSP00000506598.1:p.Val227Ala
ENST00000679704.1:c.*884T>C	ENSP00000505117.1:n.*884T>C
ENST00000679709.1:c.*1081T>C	ENSP00000506623.1:n.*1081T>C
ENST00000679976.1:c.*702T>C	ENSP00000505565.1:n.*702T>C
ENST00000680166.1:n.4407T>C
ENST00000680315.1:n.1001T>C
ENST00000680517.1:c.*506T>C	ENSP00000505803.1:n.*506T>C
ENST00000680582.1:n.2080T>C
ENST00000680613.1:c.*611T>C	ENSP00000506114.1:n.*611T>C
ENST00000680662.1:c.*1032T>C	ENSP00000505080.1:n.*1032T>C
ENST00000680691.1:c.*781T>C	ENSP00000506487.1:n.*781T>C
ENST00000680694.1:c.*706T>C	ENSP00000505658.1:n.*706T>C
ENST00000680743.1:c.*907T>C	ENSP00000505073.1:n.*907T>C
ENST00000680749.1:c.*403T>C	ENSP00000505122.1:n.*403T>C
ENST00000680798.1:c.*593T>C	ENSP00000505670.1:n.*593T>C
ENST00000680805.1:c.977T>C	ENSP00000505447.1:p.Val326Ala
ENST00000680844.1:c.*902T>C	ENSP00000506541.1:n.*902T>C
ENST00000680948.1:c.*985T>C	ENSP00000505441.1:n.*985T>C
ENST00000680964.1:c.*211T>C	ENSP00000505961.1:n.*211T>C
ENST00000681037.1:c.*2602T>C	ENSP00000506025.1:n.*2602T>C
ENST00000681063.1:c.*387T>C	ENSP00000506616.1:n.*387T>C
ENST00000681209.1:c.*773T>C	ENSP00000505877.1:n.*773T>C
ENST00000681278.1:n.1820T>C
ENST00000681289.1:n.5113T>C
ENST00000681361.1:c.*785T>C	ENSP00000506679.1:n.*785T>C
ENST00000681430.1:c.*211T>C	ENSP00000506301.1:n.*211T>C
ENST00000681446.1:c.*822T>C	ENSP00000506244.1:n.*822T>C
ENST00000681450.1:c.*789T>C	ENSP00000505660.1:n.*789T>C
ENST00000681548.1:c.*704T>C	ENSP00000505275.1:n.*704T>C
ENST00000681616.1:c.*777T>C	ENSP00000505111.1:n.*777T>C
ENST00000681621.1:c.*702T>C	ENSP00000505770.1:n.*702T>C
ENST00000681680.1:n.3213T>C
ENST00000681720.1:c.*573T>C	ENSP00000505438.1:n.*573T>C
ENST00000681730.1:n.1340T>C
ENST00000681790.1:c.860T>C	ENSP00000505130.1:p.Val287Ala
ENST00000681837.1:n.1734T>C
ENST00000681913.1:n.3364T>C
ENST00000681916.1:c.*886T>C	ENSP00000506477.1:n.*886T>C
ENST00000681930.1:n.3242T>C
ENST00000370834.9:c.1217T>C	ENSP00000359871.5:p.Val406Ala
ENST00000370841.8:c.1118T>C	ENSP00000359878.4:p.Val373Ala
ENST00000420607.6:c.1130T>C	ENSP00000409612.2:p.Val377Ala
ENST00000481374.1:n.391T>C
ENST00000525808.5:c.*704T>C	ENSP00000434823.1:n.*704T>C
ENST00000526129.5:c.*902T>C	ENSP00000434092.1:n.*902T>C
ENST00000526196.5:c.*886T>C	ENSP00000431953.1:n.*886T>C
ENST00000528016.1:c.160-7883T>C	ENSP00000434284.1:n.160-7883T>C
ENST00000529059.5:n.1027T>C
ENST00000541113.5:c.1010T>C	ENSP00000442324.1:p.Val337Ala
NM_000016.5:c.1118T>C	NP_000007.1:p.Val373Ala
NM_001127328.2:c.1130T>C	NP_001120800.1:p.Val377Ala
NM_001286042.1:c.1010T>C	NP_001272971.1:p.Val337Ala
NM_001286043.1:c.1217T>C	NP_001272972.1:p.Val406Ala
NM_001286044.1:c.551T>C	NP_001272973.1:p.Val184Ala
NM_000016.6:c.1118T>C MANE Select	NP_000007.1:p.Val373Ala
NM_001127328.3:c.1130T>C	NP_001120800.1:p.Val377Ala
NM_001286042.2:c.1010T>C	NP_001272971.1:p.Val337Ala
NM_001286043.2:c.1217T>C	NP_001272972.1:p.Val406Ala
NM_001286044.2:c.551T>C	NP_001272973.1:p.Val184Ala