Canonical Allele Identifier: CA340816795

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215225T>G (hg19) ; chr1:g.75749540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749540T>G , CM000663.2:g.75749540T>G	GRCh38
NC_000001.10:g.76215225T>G , CM000663.1:g.76215225T>G	GRCh37
NC_000001.9:g.75987813T>G	NCBI36
NG_007045.2:g.30183T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.830T>G MANE Select	ENSP00000359878.5:p.Phe277Cys
ENST00000473018.3:n.2954T>G
ENST00000532207.6:n.1719T>G
ENST00000541113.6:c.830T>G	ENSP00000442324.2:p.Phe277Cys
ENST00000679509.1:n.1792T>G
ENST00000679530.1:c.*598T>G	ENSP00000506454.1:n.*598T>G
ENST00000679615.1:n.2845T>G
ENST00000679687.1:c.392T>G	ENSP00000506598.1:p.Phe131Cys
ENST00000679704.1:c.*596T>G	ENSP00000505117.1:n.*596T>G
ENST00000679709.1:c.*793T>G	ENSP00000506623.1:n.*793T>G
ENST00000679976.1:c.*414T>G	ENSP00000505565.1:n.*414T>G
ENST00000680166.1:n.4119T>G
ENST00000680517.1:c.*218T>G	ENSP00000505803.1:n.*218T>G
ENST00000680582.1:n.1792T>G
ENST00000680613.1:c.*201T>G	ENSP00000506114.1:n.*201T>G
ENST00000680662.1:c.*744T>G	ENSP00000505080.1:n.*744T>G
ENST00000680691.1:c.*493T>G	ENSP00000506487.1:n.*493T>G
ENST00000680694.1:c.*418T>G	ENSP00000505658.1:n.*418T>G
ENST00000680743.1:c.*497T>G	ENSP00000505073.1:n.*497T>G
ENST00000680749.1:c.*115T>G	ENSP00000505122.1:n.*115T>G
ENST00000680798.1:c.*305T>G	ENSP00000505670.1:n.*305T>G
ENST00000680805.1:c.709-911T>G	ENSP00000505447.1:n.709-911T>G
ENST00000680844.1:c.*614T>G	ENSP00000506541.1:n.*614T>G
ENST00000680948.1:c.*697T>G	ENSP00000505441.1:n.*697T>G
ENST00000680964.1:c.830T>G	ENSP00000505961.1:p.Phe277Cys
ENST00000681037.1:c.*2314T>G	ENSP00000506025.1:n.*2314T>G
ENST00000681063.1:c.600-911T>G	ENSP00000506616.1:n.600-911T>G
ENST00000681209.1:c.*485T>G	ENSP00000505877.1:n.*485T>G
ENST00000681278.1:n.1187T>G
ENST00000681289.1:n.4825T>G
ENST00000681361.1:c.*497T>G	ENSP00000506679.1:n.*497T>G
ENST00000681430.1:c.830T>G	ENSP00000506301.1:p.Phe277Cys
ENST00000681446.1:c.*412T>G	ENSP00000506244.1:n.*412T>G
ENST00000681450.1:c.*501T>G	ENSP00000505660.1:n.*501T>G
ENST00000681548.1:c.*416T>G	ENSP00000505275.1:n.*416T>G
ENST00000681616.1:c.*489T>G	ENSP00000505111.1:n.*489T>G
ENST00000681621.1:c.*414T>G	ENSP00000505770.1:n.*414T>G
ENST00000681680.1:n.2925T>G
ENST00000681720.1:c.*285T>G	ENSP00000505438.1:n.*285T>G
ENST00000681730.1:n.1052T>G
ENST00000681790.1:c.572T>G	ENSP00000505130.1:p.Phe191Cys
ENST00000681837.1:n.1446T>G
ENST00000681913.1:n.2954T>G
ENST00000681916.1:c.*598T>G	ENSP00000506477.1:n.*598T>G
ENST00000681930.1:n.2954T>G
ENST00000370834.9:c.929T>G	ENSP00000359871.5:p.Phe310Cys
ENST00000370841.8:c.830T>G	ENSP00000359878.4:p.Phe277Cys
ENST00000420607.6:c.842T>G	ENSP00000409612.2:p.Phe281Cys
ENST00000525808.5:c.*416T>G	ENSP00000434823.1:n.*416T>G
ENST00000526129.5:c.*614T>G	ENSP00000434092.1:n.*614T>G
ENST00000526196.5:c.*598T>G	ENSP00000431953.1:n.*598T>G
ENST00000528016.1:c.44T>G	ENSP00000434284.1:p.Phe15Cys
ENST00000529059.5:n.739T>G
ENST00000530953.6:c.*327T>G	ENSP00000431372.1:n.*327T>G
ENST00000532207.5:n.560T>G
ENST00000532509.5:c.*594T>G	ENSP00000432522.1:n.*594T>G
ENST00000534334.5:c.*414T>G	ENSP00000435584.1:n.*414T>G
ENST00000541113.5:c.722T>G	ENSP00000442324.1:p.Phe241Cys
NM_000016.5:c.830T>G	NP_000007.1:p.Phe277Cys
NM_001127328.2:c.842T>G	NP_001120800.1:p.Phe281Cys
NM_001286042.1:c.722T>G	NP_001272971.1:p.Phe241Cys
NM_001286043.1:c.929T>G	NP_001272972.1:p.Phe310Cys
NM_001286044.1:c.263T>G	NP_001272973.1:p.Phe88Cys
NM_000016.6:c.830T>G MANE Select	NP_000007.1:p.Phe277Cys
NM_001127328.3:c.842T>G	NP_001120800.1:p.Phe281Cys
NM_001286042.2:c.722T>G	NP_001272971.1:p.Phe241Cys
NM_001286043.2:c.929T>G	NP_001272972.1:p.Phe310Cys
NM_001286044.2:c.263T>G	NP_001272973.1:p.Phe88Cys