Canonical Allele Identifier: CA340816786

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2622343
• ClinVar RCV Id: RCV003381491
• dbSNP Id: rs1248069972
• gnomAD v2: 1-76215221-G-A
• gnomAD v4: 1-75749536-G-A
• MyVariant Identifiers: chr1:g.76215221G>A (hg19) ; chr1:g.75749536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749536G>A , CM000663.2:g.75749536G>A	GRCh38
NC_000001.10:g.76215221G>A , CM000663.1:g.76215221G>A	GRCh37
NC_000001.9:g.75987809G>A	NCBI36
NG_007045.2:g.30179G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.826G>A MANE Select	ENSP00000359878.5:p.Ala276Thr
ENST00000473018.3:n.2950G>A
ENST00000532207.6:n.1715G>A
ENST00000541113.6:c.826G>A	ENSP00000442324.2:p.Ala276Thr
ENST00000679509.1:n.1788G>A
ENST00000679530.1:c.*594G>A	ENSP00000506454.1:n.*594G>A
ENST00000679615.1:n.2841G>A
ENST00000679687.1:c.388G>A	ENSP00000506598.1:p.Ala130Thr
ENST00000679704.1:c.*592G>A	ENSP00000505117.1:n.*592G>A
ENST00000679709.1:c.*789G>A	ENSP00000506623.1:n.*789G>A
ENST00000679976.1:c.*410G>A	ENSP00000505565.1:n.*410G>A
ENST00000680166.1:n.4115G>A
ENST00000680517.1:c.*214G>A	ENSP00000505803.1:n.*214G>A
ENST00000680582.1:n.1788G>A
ENST00000680613.1:c.*197G>A	ENSP00000506114.1:n.*197G>A
ENST00000680662.1:c.*740G>A	ENSP00000505080.1:n.*740G>A
ENST00000680691.1:c.*489G>A	ENSP00000506487.1:n.*489G>A
ENST00000680694.1:c.*414G>A	ENSP00000505658.1:n.*414G>A
ENST00000680743.1:c.*493G>A	ENSP00000505073.1:n.*493G>A
ENST00000680749.1:c.*111G>A	ENSP00000505122.1:n.*111G>A
ENST00000680798.1:c.*301G>A	ENSP00000505670.1:n.*301G>A
ENST00000680805.1:c.709-915G>A	ENSP00000505447.1:n.709-915G>A
ENST00000680844.1:c.*610G>A	ENSP00000506541.1:n.*610G>A
ENST00000680948.1:c.*693G>A	ENSP00000505441.1:n.*693G>A
ENST00000680964.1:c.826G>A	ENSP00000505961.1:p.Ala276Thr
ENST00000681037.1:c.*2310G>A	ENSP00000506025.1:n.*2310G>A
ENST00000681063.1:c.600-915G>A	ENSP00000506616.1:n.600-915G>A
ENST00000681209.1:c.*481G>A	ENSP00000505877.1:n.*481G>A
ENST00000681278.1:n.1183G>A
ENST00000681289.1:n.4821G>A
ENST00000681361.1:c.*493G>A	ENSP00000506679.1:n.*493G>A
ENST00000681430.1:c.826G>A	ENSP00000506301.1:p.Ala276Thr
ENST00000681446.1:c.*408G>A	ENSP00000506244.1:n.*408G>A
ENST00000681450.1:c.*497G>A	ENSP00000505660.1:n.*497G>A
ENST00000681548.1:c.*412G>A	ENSP00000505275.1:n.*412G>A
ENST00000681616.1:c.*485G>A	ENSP00000505111.1:n.*485G>A
ENST00000681621.1:c.*410G>A	ENSP00000505770.1:n.*410G>A
ENST00000681680.1:n.2921G>A
ENST00000681720.1:c.*281G>A	ENSP00000505438.1:n.*281G>A
ENST00000681730.1:n.1048G>A
ENST00000681790.1:c.568G>A	ENSP00000505130.1:p.Ala190Thr
ENST00000681837.1:n.1442G>A
ENST00000681913.1:n.2950G>A
ENST00000681916.1:c.*594G>A	ENSP00000506477.1:n.*594G>A
ENST00000681930.1:n.2950G>A
ENST00000370834.9:c.925G>A	ENSP00000359871.5:p.Ala309Thr
ENST00000370841.8:c.826G>A	ENSP00000359878.4:p.Ala276Thr
ENST00000420607.6:c.838G>A	ENSP00000409612.2:p.Ala280Thr
ENST00000525808.5:c.*412G>A	ENSP00000434823.1:n.*412G>A
ENST00000526129.5:c.*610G>A	ENSP00000434092.1:n.*610G>A
ENST00000526196.5:c.*594G>A	ENSP00000431953.1:n.*594G>A
ENST00000528016.1:c.40G>A	ENSP00000434284.1:p.Ala14Thr
ENST00000529059.5:n.735G>A
ENST00000530953.6:c.*323G>A	ENSP00000431372.1:n.*323G>A
ENST00000532207.5:n.556G>A
ENST00000532509.5:c.*590G>A	ENSP00000432522.1:n.*590G>A
ENST00000534334.5:c.*410G>A	ENSP00000435584.1:n.*410G>A
ENST00000541113.5:c.718G>A	ENSP00000442324.1:p.Ala240Thr
NM_000016.5:c.826G>A	NP_000007.1:p.Ala276Thr
NM_001127328.2:c.838G>A	NP_001120800.1:p.Ala280Thr
NM_001286042.1:c.718G>A	NP_001272971.1:p.Ala240Thr
NM_001286043.1:c.925G>A	NP_001272972.1:p.Ala309Thr
NM_001286044.1:c.259G>A	NP_001272973.1:p.Ala87Thr
NM_000016.6:c.826G>A MANE Select	NP_000007.1:p.Ala276Thr
NM_001127328.3:c.838G>A	NP_001120800.1:p.Ala280Thr
NM_001286042.2:c.718G>A	NP_001272971.1:p.Ala240Thr
NM_001286043.2:c.925G>A	NP_001272972.1:p.Ala309Thr
NM_001286044.2:c.259G>A	NP_001272973.1:p.Ala87Thr