Canonical Allele Identifier: CA340816682

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215186T>G (hg19) ; chr1:g.75749501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749501T>G , CM000663.2:g.75749501T>G	GRCh38
NC_000001.10:g.76215186T>G , CM000663.1:g.76215186T>G	GRCh37
NC_000001.9:g.75987774T>G	NCBI36
NG_007045.2:g.30144T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.791T>G MANE Select	ENSP00000359878.5:p.Ile264Ser
ENST00000473018.3:n.2915T>G
ENST00000532207.6:n.1680T>G
ENST00000541113.6:c.791T>G	ENSP00000442324.2:p.Ile264Ser
ENST00000679509.1:n.1753T>G
ENST00000679530.1:c.*559T>G	ENSP00000506454.1:n.*559T>G
ENST00000679615.1:n.2806T>G
ENST00000679687.1:c.353T>G	ENSP00000506598.1:p.Ile118Ser
ENST00000679704.1:c.*557T>G	ENSP00000505117.1:n.*557T>G
ENST00000679709.1:c.*754T>G	ENSP00000506623.1:n.*754T>G
ENST00000679976.1:c.*375T>G	ENSP00000505565.1:n.*375T>G
ENST00000680166.1:n.4080T>G
ENST00000680517.1:c.*179T>G	ENSP00000505803.1:n.*179T>G
ENST00000680582.1:n.1753T>G
ENST00000680613.1:c.*162T>G	ENSP00000506114.1:n.*162T>G
ENST00000680662.1:c.*705T>G	ENSP00000505080.1:n.*705T>G
ENST00000680691.1:c.*454T>G	ENSP00000506487.1:n.*454T>G
ENST00000680694.1:c.*379T>G	ENSP00000505658.1:n.*379T>G
ENST00000680743.1:c.*458T>G	ENSP00000505073.1:n.*458T>G
ENST00000680749.1:c.*76T>G	ENSP00000505122.1:n.*76T>G
ENST00000680798.1:c.*266T>G	ENSP00000505670.1:n.*266T>G
ENST00000680805.1:c.709-950T>G	ENSP00000505447.1:n.709-950T>G
ENST00000680844.1:c.*575T>G	ENSP00000506541.1:n.*575T>G
ENST00000680948.1:c.*658T>G	ENSP00000505441.1:n.*658T>G
ENST00000680964.1:c.791T>G	ENSP00000505961.1:p.Ile264Ser
ENST00000681037.1:c.*2275T>G	ENSP00000506025.1:n.*2275T>G
ENST00000681063.1:c.600-950T>G	ENSP00000506616.1:n.600-950T>G
ENST00000681209.1:c.*446T>G	ENSP00000505877.1:n.*446T>G
ENST00000681278.1:n.1148T>G
ENST00000681289.1:n.4786T>G
ENST00000681361.1:c.*458T>G	ENSP00000506679.1:n.*458T>G
ENST00000681430.1:c.791T>G	ENSP00000506301.1:p.Ile264Ser
ENST00000681446.1:c.*373T>G	ENSP00000506244.1:n.*373T>G
ENST00000681450.1:c.*462T>G	ENSP00000505660.1:n.*462T>G
ENST00000681548.1:c.*377T>G	ENSP00000505275.1:n.*377T>G
ENST00000681616.1:c.*450T>G	ENSP00000505111.1:n.*450T>G
ENST00000681621.1:c.*375T>G	ENSP00000505770.1:n.*375T>G
ENST00000681680.1:n.2886T>G
ENST00000681720.1:c.*246T>G	ENSP00000505438.1:n.*246T>G
ENST00000681730.1:n.1013T>G
ENST00000681790.1:c.533T>G	ENSP00000505130.1:p.Ile178Ser
ENST00000681837.1:n.1407T>G
ENST00000681913.1:n.2915T>G
ENST00000681916.1:c.*559T>G	ENSP00000506477.1:n.*559T>G
ENST00000681930.1:n.2915T>G
ENST00000370834.9:c.890T>G	ENSP00000359871.5:p.Ile297Ser
ENST00000370841.8:c.791T>G	ENSP00000359878.4:p.Ile264Ser
ENST00000420607.6:c.803T>G	ENSP00000409612.2:p.Ile268Ser
ENST00000525808.5:c.*377T>G	ENSP00000434823.1:n.*377T>G
ENST00000526129.5:c.*575T>G	ENSP00000434092.1:n.*575T>G
ENST00000526196.5:c.*559T>G	ENSP00000431953.1:n.*559T>G
ENST00000526930.1:n.564T>G
ENST00000528016.1:c.5T>G	ENSP00000434284.1:p.Ile2Ser
ENST00000529059.5:n.700T>G
ENST00000530953.6:c.*288T>G	ENSP00000431372.1:n.*288T>G
ENST00000532207.5:n.521T>G
ENST00000532509.5:c.*555T>G	ENSP00000432522.1:n.*555T>G
ENST00000534334.5:c.*375T>G	ENSP00000435584.1:n.*375T>G
ENST00000541113.5:c.683T>G	ENSP00000442324.1:p.Ile228Ser
NM_000016.5:c.791T>G	NP_000007.1:p.Ile264Ser
NM_001127328.2:c.803T>G	NP_001120800.1:p.Ile268Ser
NM_001286042.1:c.683T>G	NP_001272971.1:p.Ile228Ser
NM_001286043.1:c.890T>G	NP_001272972.1:p.Ile297Ser
NM_001286044.1:c.224T>G	NP_001272973.1:p.Ile75Ser
NM_000016.6:c.791T>G MANE Select	NP_000007.1:p.Ile264Ser
NM_001127328.3:c.803T>G	NP_001120800.1:p.Ile268Ser
NM_001286042.2:c.683T>G	NP_001272971.1:p.Ile228Ser
NM_001286043.2:c.890T>G	NP_001272972.1:p.Ile297Ser
NM_001286044.2:c.224T>G	NP_001272973.1:p.Ile75Ser