Canonical Allele Identifier: CA340815203

Gene: ACADM

Linked Data

• COSMIC: COSM6127639 ; COSM6127640
• MyVariant Identifiers: chr1:g.76205735G>T (hg19) ; chr1:g.75740050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740050G>T , CM000663.2:g.75740050G>T	GRCh38
NC_000001.10:g.76205735G>T , CM000663.1:g.76205735G>T	GRCh37
NC_000001.9:g.75978323G>T	NCBI36
NG_007045.2:g.20693G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.539G>T MANE Select	ENSP00000359878.5:p.Gly180Val
ENST00000473018.3:n.2663G>T
ENST00000541113.6:c.539G>T	ENSP00000442324.2:p.Gly180Val
ENST00000679509.1:n.1501G>T
ENST00000679530.1:c.*307G>T	ENSP00000506454.1:n.*307G>T
ENST00000679615.1:n.2663G>T
ENST00000679687.1:c.101G>T	ENSP00000506598.1:p.Gly34Val
ENST00000679704.1:c.*305G>T	ENSP00000505117.1:n.*305G>T
ENST00000679709.1:c.*502G>T	ENSP00000506623.1:n.*502G>T
ENST00000679804.1:n.278G>T
ENST00000679976.1:c.*123G>T	ENSP00000505565.1:n.*123G>T
ENST00000680166.1:n.3828G>T
ENST00000680517.1:c.*36G>T	ENSP00000505803.1:n.*36G>T
ENST00000680582.1:n.1501G>T
ENST00000680613.1:c.539G>T	ENSP00000506114.1:p.Gly180Val
ENST00000680662.1:c.*453G>T	ENSP00000505080.1:n.*453G>T
ENST00000680691.1:c.*202G>T	ENSP00000506487.1:n.*202G>T
ENST00000680694.1:c.*127G>T	ENSP00000505658.1:n.*127G>T
ENST00000680743.1:c.*206G>T	ENSP00000505073.1:n.*206G>T
ENST00000680749.1:c.539G>T	ENSP00000505122.1:p.Gly180Val
ENST00000680798.1:c.*123G>T	ENSP00000505670.1:n.*123G>T
ENST00000680805.1:c.539G>T	ENSP00000505447.1:p.Gly180Val
ENST00000680844.1:c.*323G>T	ENSP00000506541.1:n.*323G>T
ENST00000680948.1:c.*406G>T	ENSP00000505441.1:n.*406G>T
ENST00000680964.1:c.539G>T	ENSP00000505961.1:p.Gly180Val
ENST00000681037.1:c.539G>T	ENSP00000506025.1:p.Gly180Val
ENST00000681063.1:c.539G>T	ENSP00000506616.1:p.Gly180Val
ENST00000681209.1:c.*303G>T	ENSP00000505877.1:n.*303G>T
ENST00000681278.1:n.896G>T
ENST00000681289.1:n.896G>T
ENST00000681361.1:c.*206G>T	ENSP00000506679.1:n.*206G>T
ENST00000681430.1:c.539G>T	ENSP00000506301.1:p.Gly180Val
ENST00000681446.1:c.*121G>T	ENSP00000506244.1:n.*121G>T
ENST00000681450.1:c.*210G>T	ENSP00000505660.1:n.*210G>T
ENST00000681548.1:c.*125G>T	ENSP00000505275.1:n.*125G>T
ENST00000681616.1:c.*307G>T	ENSP00000505111.1:n.*307G>T
ENST00000681621.1:c.*123G>T	ENSP00000505770.1:n.*123G>T
ENST00000681680.1:n.2663G>T
ENST00000681720.1:c.*55-5756G>T	ENSP00000505438.1:n.*55-5756G>T
ENST00000681730.1:n.761G>T
ENST00000681790.1:c.281G>T	ENSP00000505130.1:p.Gly94Val
ENST00000681837.1:n.1155G>T
ENST00000681913.1:n.2663G>T
ENST00000681916.1:c.*307G>T	ENSP00000506477.1:n.*307G>T
ENST00000681930.1:n.2663G>T
ENST00000370834.9:c.638G>T	ENSP00000359871.5:p.Gly213Val
ENST00000370841.8:c.539G>T	ENSP00000359878.4:p.Gly180Val
ENST00000420607.6:c.551G>T	ENSP00000409612.2:p.Gly184Val
ENST00000525808.5:c.*125G>T	ENSP00000434823.1:n.*125G>T
ENST00000526129.5:c.*323G>T	ENSP00000434092.1:n.*323G>T
ENST00000526196.5:c.*307G>T	ENSP00000431953.1:n.*307G>T
ENST00000526930.1:n.312G>T
ENST00000529059.5:n.448G>T
ENST00000530953.6:c.*36G>T	ENSP00000431372.1:n.*36G>T
ENST00000532509.5:c.*303G>T	ENSP00000432522.1:n.*303G>T
ENST00000534334.5:c.*123G>T	ENSP00000435584.1:n.*123G>T
ENST00000541113.5:c.431G>T	ENSP00000442324.1:p.Gly144Val
NM_000016.5:c.539G>T	NP_000007.1:p.Gly180Val
NM_001127328.2:c.551G>T	NP_001120800.1:p.Gly184Val
NM_001286042.1:c.431G>T	NP_001272971.1:p.Gly144Val
NM_001286043.1:c.638G>T	NP_001272972.1:p.Gly213Val
NM_001286044.1:c.-29G>T	NP_001272973.1:n.-29G>T
NM_000016.6:c.539G>T MANE Select	NP_000007.1:p.Gly180Val
NM_001127328.3:c.551G>T	NP_001120800.1:p.Gly184Val
NM_001286042.2:c.431G>T	NP_001272971.1:p.Gly144Val
NM_001286043.2:c.638G>T	NP_001272972.1:p.Gly213Val
NM_001286044.2:c.-29G>T	NP_001272973.1:n.-29G>T