Canonical Allele Identifier: CA340815828

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76211505C>G (hg19) ; chr1:g.75745820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745820C>G , CM000663.2:g.75745820C>G	GRCh38
NC_000001.10:g.76211505C>G , CM000663.1:g.76211505C>G	GRCh37
NC_000001.9:g.75984093C>G	NCBI36
NG_007045.2:g.26463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.614C>G MANE Select	ENSP00000359878.5:p.Ala205Gly
ENST00000473018.3:n.2738C>G
ENST00000532207.6:n.1503C>G
ENST00000541113.6:c.614C>G	ENSP00000442324.2:p.Ala205Gly
ENST00000679509.1:n.1576C>G
ENST00000679530.1:c.*382C>G	ENSP00000506454.1:n.*382C>G
ENST00000679615.1:n.2724-3599C>G
ENST00000679687.1:c.176C>G	ENSP00000506598.1:p.Ala59Gly
ENST00000679704.1:c.*380C>G	ENSP00000505117.1:n.*380C>G
ENST00000679709.1:c.*577C>G	ENSP00000506623.1:n.*577C>G
ENST00000679976.1:c.*198C>G	ENSP00000505565.1:n.*198C>G
ENST00000680166.1:n.3903C>G
ENST00000680517.1:c.*97-3599C>G	ENSP00000505803.1:n.*97-3599C>G
ENST00000680582.1:n.1576C>G
ENST00000680613.1:c.600-15C>G	ENSP00000506114.1:n.600-15C>G
ENST00000680662.1:c.*528C>G	ENSP00000505080.1:n.*528C>G
ENST00000680691.1:c.*277C>G	ENSP00000506487.1:n.*277C>G
ENST00000680694.1:c.*202C>G	ENSP00000505658.1:n.*202C>G
ENST00000680743.1:c.*281C>G	ENSP00000505073.1:n.*281C>G
ENST00000680749.1:c.600-3599C>G	ENSP00000505122.1:n.600-3599C>G
ENST00000680798.1:c.*184-3599C>G	ENSP00000505670.1:n.*184-3599C>G
ENST00000680805.1:c.614C>G	ENSP00000505447.1:p.Ala205Gly
ENST00000680844.1:c.*398C>G	ENSP00000506541.1:n.*398C>G
ENST00000680948.1:c.*481C>G	ENSP00000505441.1:n.*481C>G
ENST00000680964.1:c.614C>G	ENSP00000505961.1:p.Ala205Gly
ENST00000681037.1:c.*2113-15C>G	ENSP00000506025.1:n.*2113-15C>G
ENST00000681063.1:c.600-4631C>G	ENSP00000506616.1:n.600-4631C>G
ENST00000681209.1:c.*364-3599C>G	ENSP00000505877.1:n.*364-3599C>G
ENST00000681278.1:n.971C>G
ENST00000681289.1:n.4609C>G
ENST00000681361.1:c.*281C>G	ENSP00000506679.1:n.*281C>G
ENST00000681430.1:c.614C>G	ENSP00000506301.1:p.Ala205Gly
ENST00000681446.1:c.*196C>G	ENSP00000506244.1:n.*196C>G
ENST00000681450.1:c.*285C>G	ENSP00000505660.1:n.*285C>G
ENST00000681548.1:c.*200C>G	ENSP00000505275.1:n.*200C>G
ENST00000681616.1:c.*368-3599C>G	ENSP00000505111.1:n.*368-3599C>G
ENST00000681621.1:c.*198C>G	ENSP00000505770.1:n.*198C>G
ENST00000681680.1:n.2724-15C>G
ENST00000681720.1:c.*69C>G	ENSP00000505438.1:n.*69C>G
ENST00000681730.1:n.836C>G
ENST00000681790.1:c.356C>G	ENSP00000505130.1:p.Ala119Gly
ENST00000681837.1:n.1230C>G
ENST00000681913.1:n.2738C>G
ENST00000681916.1:c.*382C>G	ENSP00000506477.1:n.*382C>G
ENST00000681930.1:n.2738C>G
ENST00000370834.9:c.713C>G	ENSP00000359871.5:p.Ala238Gly
ENST00000370841.8:c.614C>G	ENSP00000359878.4:p.Ala205Gly
ENST00000420607.6:c.626C>G	ENSP00000409612.2:p.Ala209Gly
ENST00000525808.5:c.*200C>G	ENSP00000434823.1:n.*200C>G
ENST00000526129.5:c.*398C>G	ENSP00000434092.1:n.*398C>G
ENST00000526196.5:c.*382C>G	ENSP00000431953.1:n.*382C>G
ENST00000526930.1:n.387C>G
ENST00000529059.5:n.523C>G
ENST00000530953.6:c.*111C>G	ENSP00000431372.1:n.*111C>G
ENST00000532207.5:n.344C>G
ENST00000532509.5:c.*378C>G	ENSP00000432522.1:n.*378C>G
ENST00000534334.5:c.*198C>G	ENSP00000435584.1:n.*198C>G
ENST00000541113.5:c.506C>G	ENSP00000442324.1:p.Ala169Gly
NM_000016.5:c.614C>G	NP_000007.1:p.Ala205Gly
NM_001127328.2:c.626C>G	NP_001120800.1:p.Ala209Gly
NM_001286042.1:c.506C>G	NP_001272971.1:p.Ala169Gly
NM_001286043.1:c.713C>G	NP_001272972.1:p.Ala238Gly
NM_001286044.1:c.47C>G	NP_001272973.1:p.Ala16Gly
NM_000016.6:c.614C>G MANE Select	NP_000007.1:p.Ala205Gly
NM_001127328.3:c.626C>G	NP_001120800.1:p.Ala209Gly
NM_001286042.2:c.506C>G	NP_001272971.1:p.Ala169Gly
NM_001286043.2:c.713C>G	NP_001272972.1:p.Ala238Gly
NM_001286044.2:c.47C>G	NP_001272973.1:p.Ala16Gly