Canonical Allele Identifier: CA340816735

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2438806
• ClinVar RCV Id: RCV003139558
• dbSNP Id: rs1325021328
• gnomAD v2: 1-76215201-G-A
• gnomAD v4: 1-75749516-G-A
• MyVariant Identifiers: chr1:g.76215201G>A (hg19) ; chr1:g.75749516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749516G>A , CM000663.2:g.75749516G>A	GRCh38
NC_000001.10:g.76215201G>A , CM000663.1:g.76215201G>A	GRCh37
NC_000001.9:g.75987789G>A	NCBI36
NG_007045.2:g.30159G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.806G>A MANE Select	ENSP00000359878.5:p.Gly269Asp
ENST00000473018.3:n.2930G>A
ENST00000532207.6:n.1695G>A
ENST00000541113.6:c.806G>A	ENSP00000442324.2:p.Gly269Asp
ENST00000679509.1:n.1768G>A
ENST00000679530.1:c.*574G>A	ENSP00000506454.1:n.*574G>A
ENST00000679615.1:n.2821G>A
ENST00000679687.1:c.368G>A	ENSP00000506598.1:p.Gly123Asp
ENST00000679704.1:c.*572G>A	ENSP00000505117.1:n.*572G>A
ENST00000679709.1:c.*769G>A	ENSP00000506623.1:n.*769G>A
ENST00000679976.1:c.*390G>A	ENSP00000505565.1:n.*390G>A
ENST00000680166.1:n.4095G>A
ENST00000680517.1:c.*194G>A	ENSP00000505803.1:n.*194G>A
ENST00000680582.1:n.1768G>A
ENST00000680613.1:c.*177G>A	ENSP00000506114.1:n.*177G>A
ENST00000680662.1:c.*720G>A	ENSP00000505080.1:n.*720G>A
ENST00000680691.1:c.*469G>A	ENSP00000506487.1:n.*469G>A
ENST00000680694.1:c.*394G>A	ENSP00000505658.1:n.*394G>A
ENST00000680743.1:c.*473G>A	ENSP00000505073.1:n.*473G>A
ENST00000680749.1:c.*91G>A	ENSP00000505122.1:n.*91G>A
ENST00000680798.1:c.*281G>A	ENSP00000505670.1:n.*281G>A
ENST00000680805.1:c.709-935G>A	ENSP00000505447.1:n.709-935G>A
ENST00000680844.1:c.*590G>A	ENSP00000506541.1:n.*590G>A
ENST00000680948.1:c.*673G>A	ENSP00000505441.1:n.*673G>A
ENST00000680964.1:c.806G>A	ENSP00000505961.1:p.Gly269Asp
ENST00000681037.1:c.*2290G>A	ENSP00000506025.1:n.*2290G>A
ENST00000681063.1:c.600-935G>A	ENSP00000506616.1:n.600-935G>A
ENST00000681209.1:c.*461G>A	ENSP00000505877.1:n.*461G>A
ENST00000681278.1:n.1163G>A
ENST00000681289.1:n.4801G>A
ENST00000681361.1:c.*473G>A	ENSP00000506679.1:n.*473G>A
ENST00000681430.1:c.806G>A	ENSP00000506301.1:p.Gly269Asp
ENST00000681446.1:c.*388G>A	ENSP00000506244.1:n.*388G>A
ENST00000681450.1:c.*477G>A	ENSP00000505660.1:n.*477G>A
ENST00000681548.1:c.*392G>A	ENSP00000505275.1:n.*392G>A
ENST00000681616.1:c.*465G>A	ENSP00000505111.1:n.*465G>A
ENST00000681621.1:c.*390G>A	ENSP00000505770.1:n.*390G>A
ENST00000681680.1:n.2901G>A
ENST00000681720.1:c.*261G>A	ENSP00000505438.1:n.*261G>A
ENST00000681730.1:n.1028G>A
ENST00000681790.1:c.548G>A	ENSP00000505130.1:p.Gly183Asp
ENST00000681837.1:n.1422G>A
ENST00000681913.1:n.2930G>A
ENST00000681916.1:c.*574G>A	ENSP00000506477.1:n.*574G>A
ENST00000681930.1:n.2930G>A
ENST00000370834.9:c.905G>A	ENSP00000359871.5:p.Gly302Asp
ENST00000370841.8:c.806G>A	ENSP00000359878.4:p.Gly269Asp
ENST00000420607.6:c.818G>A	ENSP00000409612.2:p.Gly273Asp
ENST00000525808.5:c.*392G>A	ENSP00000434823.1:n.*392G>A
ENST00000526129.5:c.*590G>A	ENSP00000434092.1:n.*590G>A
ENST00000526196.5:c.*574G>A	ENSP00000431953.1:n.*574G>A
ENST00000526930.1:n.579G>A
ENST00000528016.1:c.20G>A	ENSP00000434284.1:p.Gly7Asp
ENST00000529059.5:n.715G>A
ENST00000530953.6:c.*303G>A	ENSP00000431372.1:n.*303G>A
ENST00000532207.5:n.536G>A
ENST00000532509.5:c.*570G>A	ENSP00000432522.1:n.*570G>A
ENST00000534334.5:c.*390G>A	ENSP00000435584.1:n.*390G>A
ENST00000541113.5:c.698G>A	ENSP00000442324.1:p.Gly233Asp
NM_000016.5:c.806G>A	NP_000007.1:p.Gly269Asp
NM_001127328.2:c.818G>A	NP_001120800.1:p.Gly273Asp
NM_001286042.1:c.698G>A	NP_001272971.1:p.Gly233Asp
NM_001286043.1:c.905G>A	NP_001272972.1:p.Gly302Asp
NM_001286044.1:c.239G>A	NP_001272973.1:p.Gly80Asp
NM_000016.6:c.806G>A MANE Select	NP_000007.1:p.Gly269Asp
NM_001127328.3:c.818G>A	NP_001120800.1:p.Gly273Asp
NM_001286042.2:c.698G>A	NP_001272971.1:p.Gly233Asp
NM_001286043.2:c.905G>A	NP_001272972.1:p.Gly302Asp
NM_001286044.2:c.239G>A	NP_001272973.1:p.Gly80Asp