Canonical Allele Identifier: CA10576233
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 226060
ClinVar RCV Id: RCV000211443 RCV003917863
dbSNP Id: rs866388216
gnomAD v2: 1-76205796-G-A
gnomAD v3: 1-75740111-G-A
gnomAD v4: 1-75740111-G-A
MyVariant Identifiers: chr1:g.76205796G>A (hg19) chr1:g.75740111G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740111G>A , CM000663.2:g.75740111G>A GRCh38
NC_000001.10:g.76205796G>A , CM000663.1:g.76205796G>A GRCh37
NC_000001.9:g.75978384G>A NCBI36
NG_007045.2:g.20754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.599+1G>A MANE Select ENSP00000359878.5:n.599+1G>A
ENST00000473018.3:n.2723+1G>A
ENST00000541113.6:c.599+1G>A ENSP00000442324.2:n.599+1G>A
ENST00000679509.1:n.1561+1G>A
ENST00000679530.1:c.*367+1G>A ENSP00000506454.1:n.*367+1G>A
ENST00000679615.1:n.2723+1G>A
ENST00000679687.1:c.161+1G>A ENSP00000506598.1:n.161+1G>A
ENST00000679704.1:c.*365+1G>A ENSP00000505117.1:n.*365+1G>A
ENST00000679709.1:c.*562+1G>A ENSP00000506623.1:n.*562+1G>A
ENST00000679804.1:n.339G>A
ENST00000679976.1:c.*183+1G>A ENSP00000505565.1:n.*183+1G>A
ENST00000680166.1:n.3888+1G>A
ENST00000680517.1:c.*96+1G>A ENSP00000505803.1:n.*96+1G>A
ENST00000680582.1:n.1561+1G>A
ENST00000680613.1:c.599+1G>A ENSP00000506114.1:n.599+1G>A
ENST00000680662.1:c.*513+1G>A ENSP00000505080.1:n.*513+1G>A
ENST00000680691.1:c.*262+1G>A ENSP00000506487.1:n.*262+1G>A
ENST00000680694.1:c.*187+1G>A ENSP00000505658.1:n.*187+1G>A
ENST00000680743.1:c.*266+1G>A ENSP00000505073.1:n.*266+1G>A
ENST00000680749.1:c.599+1G>A ENSP00000505122.1:n.599+1G>A
ENST00000680798.1:c.*183+1G>A ENSP00000505670.1:n.*183+1G>A
ENST00000680805.1:c.599+1G>A ENSP00000505447.1:n.599+1G>A
ENST00000680844.1:c.*383+1G>A ENSP00000506541.1:n.*383+1G>A
ENST00000680948.1:c.*466+1G>A ENSP00000505441.1:n.*466+1G>A
ENST00000680964.1:c.599+1G>A ENSP00000505961.1:n.599+1G>A
ENST00000681037.1:c.599+1G>A ENSP00000506025.1:n.599+1G>A
ENST00000681063.1:c.599+1G>A ENSP00000506616.1:n.599+1G>A
ENST00000681209.1:c.*363+1G>A ENSP00000505877.1:n.*363+1G>A
ENST00000681278.1:n.956+1G>A
ENST00000681289.1:n.956+1G>A
ENST00000681361.1:c.*266+1G>A ENSP00000506679.1:n.*266+1G>A
ENST00000681430.1:c.599+1G>A ENSP00000506301.1:n.599+1G>A
ENST00000681446.1:c.*181+1G>A ENSP00000506244.1:n.*181+1G>A
ENST00000681450.1:c.*270+1G>A ENSP00000505660.1:n.*270+1G>A
ENST00000681548.1:c.*185+1G>A ENSP00000505275.1:n.*185+1G>A
ENST00000681616.1:c.*367+1G>A ENSP00000505111.1:n.*367+1G>A
ENST00000681621.1:c.*183+1G>A ENSP00000505770.1:n.*183+1G>A
ENST00000681680.1:n.2723+1G>A
ENST00000681720.1:c.*55-5695G>A ENSP00000505438.1:n.*55-5695G>A
ENST00000681730.1:n.821+1G>A
ENST00000681790.1:c.341+1G>A ENSP00000505130.1:n.341+1G>A
ENST00000681837.1:n.1215+1G>A
ENST00000681913.1:n.2723+1G>A
ENST00000681916.1:c.*367+1G>A ENSP00000506477.1:n.*367+1G>A
ENST00000681930.1:n.2723+1G>A
ENST00000370834.9:c.698+1G>A ENSP00000359871.5:n.698+1G>A
ENST00000370841.8:c.599+1G>A ENSP00000359878.4:n.599+1G>A
ENST00000420607.6:c.611+1G>A ENSP00000409612.2:n.611+1G>A
ENST00000525808.5:c.*185+1G>A ENSP00000434823.1:n.*185+1G>A
ENST00000526129.5:c.*383+1G>A ENSP00000434092.1:n.*383+1G>A
ENST00000526196.5:c.*367+1G>A ENSP00000431953.1:n.*367+1G>A
ENST00000526930.1:n.372+1G>A
ENST00000529059.5:n.508+1G>A
ENST00000530953.6:c.*96+1G>A ENSP00000431372.1:n.*96+1G>A
ENST00000532509.5:c.*363+1G>A ENSP00000432522.1:n.*363+1G>A
ENST00000534334.5:c.*183+1G>A ENSP00000435584.1:n.*183+1G>A
ENST00000541113.5:c.491+1G>A ENSP00000442324.1:n.491+1G>A
NM_000016.5:c.599+1G>A NP_000007.1:n.599+1G>A
NM_001127328.2:c.611+1G>A NP_001120800.1:n.611+1G>A
NM_001286042.1:c.491+1G>A NP_001272971.1:n.491+1G>A
NM_001286043.1:c.698+1G>A NP_001272972.1:n.698+1G>A
NM_001286044.1:c.32+1G>A NP_001272973.1:n.32+1G>A
NM_000016.6:c.599+1G>A MANE Select NP_000007.1:n.599+1G>A
NM_001127328.3:c.611+1G>A NP_001120800.1:n.611+1G>A
NM_001286042.2:c.491+1G>A NP_001272971.1:n.491+1G>A
NM_001286043.2:c.698+1G>A NP_001272972.1:n.698+1G>A
NM_001286044.2:c.32+1G>A NP_001272973.1:n.32+1G>A
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