Canonical Allele Identifier: CA340817227

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216230A>T (hg19) ; chr1:g.75750545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750545A>T , CM000663.2:g.75750545A>T	GRCh38
NC_000001.10:g.76216230A>T , CM000663.1:g.76216230A>T	GRCh37
NC_000001.9:g.75988818A>T	NCBI36
NG_007045.2:g.31188A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.944A>T MANE Select	ENSP00000359878.5:p.Glu315Val
ENST00000473018.3:n.3068A>T
ENST00000532207.6:n.1833A>T
ENST00000541113.6:c.849+986A>T	ENSP00000442324.2:n.849+986A>T
ENST00000679509.1:n.1906A>T
ENST00000679530.1:c.*712A>T	ENSP00000506454.1:n.*712A>T
ENST00000679615.1:n.2959A>T
ENST00000679687.1:c.506A>T	ENSP00000506598.1:p.Glu169Val
ENST00000679704.1:c.*710A>T	ENSP00000505117.1:n.*710A>T
ENST00000679709.1:c.*907A>T	ENSP00000506623.1:n.*907A>T
ENST00000679976.1:c.*528A>T	ENSP00000505565.1:n.*528A>T
ENST00000680166.1:n.4233A>T
ENST00000680315.1:n.827A>T
ENST00000680517.1:c.*332A>T	ENSP00000505803.1:n.*332A>T
ENST00000680582.1:n.1906A>T
ENST00000680613.1:c.*315A>T	ENSP00000506114.1:n.*315A>T
ENST00000680662.1:c.*858A>T	ENSP00000505080.1:n.*858A>T
ENST00000680691.1:c.*607A>T	ENSP00000506487.1:n.*607A>T
ENST00000680694.1:c.*532A>T	ENSP00000505658.1:n.*532A>T
ENST00000680743.1:c.*611A>T	ENSP00000505073.1:n.*611A>T
ENST00000680749.1:c.*229A>T	ENSP00000505122.1:n.*229A>T
ENST00000680798.1:c.*419A>T	ENSP00000505670.1:n.*419A>T
ENST00000680805.1:c.803A>T	ENSP00000505447.1:p.Glu268Val
ENST00000680844.1:c.*728A>T	ENSP00000506541.1:n.*728A>T
ENST00000680948.1:c.*811A>T	ENSP00000505441.1:n.*811A>T
ENST00000680964.1:c.944A>T	ENSP00000505961.1:p.Glu315Val
ENST00000681037.1:c.*2428A>T	ENSP00000506025.1:n.*2428A>T
ENST00000681063.1:c.*91A>T	ENSP00000506616.1:n.*91A>T
ENST00000681209.1:c.*599A>T	ENSP00000505877.1:n.*599A>T
ENST00000681278.1:n.1301A>T
ENST00000681289.1:n.4939A>T
ENST00000681361.1:c.*611A>T	ENSP00000506679.1:n.*611A>T
ENST00000681430.1:c.944A>T	ENSP00000506301.1:p.Glu315Val
ENST00000681446.1:c.*526A>T	ENSP00000506244.1:n.*526A>T
ENST00000681450.1:c.*615A>T	ENSP00000505660.1:n.*615A>T
ENST00000681548.1:c.*530A>T	ENSP00000505275.1:n.*530A>T
ENST00000681616.1:c.*603A>T	ENSP00000505111.1:n.*603A>T
ENST00000681621.1:c.*528A>T	ENSP00000505770.1:n.*528A>T
ENST00000681680.1:n.3039A>T
ENST00000681720.1:c.*399A>T	ENSP00000505438.1:n.*399A>T
ENST00000681730.1:n.1166A>T
ENST00000681790.1:c.686A>T	ENSP00000505130.1:p.Glu229Val
ENST00000681837.1:n.1560A>T
ENST00000681913.1:n.3068A>T
ENST00000681916.1:c.*712A>T	ENSP00000506477.1:n.*712A>T
ENST00000681930.1:n.3068A>T
ENST00000370834.9:c.1043A>T	ENSP00000359871.5:p.Glu348Val
ENST00000370841.8:c.944A>T	ENSP00000359878.4:p.Glu315Val
ENST00000420607.6:c.956A>T	ENSP00000409612.2:p.Glu319Val
ENST00000481374.1:n.95A>T
ENST00000525808.5:c.*530A>T	ENSP00000434823.1:n.*530A>T
ENST00000526129.5:c.*728A>T	ENSP00000434092.1:n.*728A>T
ENST00000526196.5:c.*712A>T	ENSP00000431953.1:n.*712A>T
ENST00000528016.1:c.158A>T	ENSP00000434284.1:p.Glu53Val
ENST00000529059.5:n.853A>T
ENST00000532207.5:n.674A>T
ENST00000534334.5:c.*528A>T	ENSP00000435584.1:n.*528A>T
ENST00000541113.5:c.836A>T	ENSP00000442324.1:p.Glu279Val
NM_000016.5:c.944A>T	NP_000007.1:p.Glu315Val
NM_001127328.2:c.956A>T	NP_001120800.1:p.Glu319Val
NM_001286042.1:c.836A>T	NP_001272971.1:p.Glu279Val
NM_001286043.1:c.1043A>T	NP_001272972.1:p.Glu348Val
NM_001286044.1:c.377A>T	NP_001272973.1:p.Glu126Val
NM_000016.6:c.944A>T MANE Select	NP_000007.1:p.Glu315Val
NM_001127328.3:c.956A>T	NP_001120800.1:p.Glu319Val
NM_001286042.2:c.836A>T	NP_001272971.1:p.Glu279Val
NM_001286043.2:c.1043A>T	NP_001272972.1:p.Glu348Val
NM_001286044.2:c.377A>T	NP_001272973.1:p.Glu126Val