Canonical Allele Identifier: CA340817232

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216231G>T (hg19) ; chr1:g.75750546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750546G>T , CM000663.2:g.75750546G>T	GRCh38
NC_000001.10:g.76216231G>T , CM000663.1:g.76216231G>T	GRCh37
NC_000001.9:g.75988819G>T	NCBI36
NG_007045.2:g.31189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.945G>T MANE Select	ENSP00000359878.5:p.Glu315Asp
ENST00000473018.3:n.3069G>T
ENST00000532207.6:n.1834G>T
ENST00000541113.6:c.849+987G>T	ENSP00000442324.2:n.849+987G>T
ENST00000679509.1:n.1907G>T
ENST00000679530.1:c.*713G>T	ENSP00000506454.1:n.*713G>T
ENST00000679615.1:n.2960G>T
ENST00000679687.1:c.507G>T	ENSP00000506598.1:p.Glu169Asp
ENST00000679704.1:c.*711G>T	ENSP00000505117.1:n.*711G>T
ENST00000679709.1:c.*908G>T	ENSP00000506623.1:n.*908G>T
ENST00000679976.1:c.*529G>T	ENSP00000505565.1:n.*529G>T
ENST00000680166.1:n.4234G>T
ENST00000680315.1:n.828G>T
ENST00000680517.1:c.*333G>T	ENSP00000505803.1:n.*333G>T
ENST00000680582.1:n.1907G>T
ENST00000680613.1:c.*316G>T	ENSP00000506114.1:n.*316G>T
ENST00000680662.1:c.*859G>T	ENSP00000505080.1:n.*859G>T
ENST00000680691.1:c.*608G>T	ENSP00000506487.1:n.*608G>T
ENST00000680694.1:c.*533G>T	ENSP00000505658.1:n.*533G>T
ENST00000680743.1:c.*612G>T	ENSP00000505073.1:n.*612G>T
ENST00000680749.1:c.*230G>T	ENSP00000505122.1:n.*230G>T
ENST00000680798.1:c.*420G>T	ENSP00000505670.1:n.*420G>T
ENST00000680805.1:c.804G>T	ENSP00000505447.1:p.Glu268Asp
ENST00000680844.1:c.*729G>T	ENSP00000506541.1:n.*729G>T
ENST00000680948.1:c.*812G>T	ENSP00000505441.1:n.*812G>T
ENST00000680964.1:c.945G>T	ENSP00000505961.1:p.Glu315Asp
ENST00000681037.1:c.*2429G>T	ENSP00000506025.1:n.*2429G>T
ENST00000681063.1:c.*92G>T	ENSP00000506616.1:n.*92G>T
ENST00000681209.1:c.*600G>T	ENSP00000505877.1:n.*600G>T
ENST00000681278.1:n.1302G>T
ENST00000681289.1:n.4940G>T
ENST00000681361.1:c.*612G>T	ENSP00000506679.1:n.*612G>T
ENST00000681430.1:c.945G>T	ENSP00000506301.1:p.Glu315Asp
ENST00000681446.1:c.*527G>T	ENSP00000506244.1:n.*527G>T
ENST00000681450.1:c.*616G>T	ENSP00000505660.1:n.*616G>T
ENST00000681548.1:c.*531G>T	ENSP00000505275.1:n.*531G>T
ENST00000681616.1:c.*604G>T	ENSP00000505111.1:n.*604G>T
ENST00000681621.1:c.*529G>T	ENSP00000505770.1:n.*529G>T
ENST00000681680.1:n.3040G>T
ENST00000681720.1:c.*400G>T	ENSP00000505438.1:n.*400G>T
ENST00000681730.1:n.1167G>T
ENST00000681790.1:c.687G>T	ENSP00000505130.1:p.Glu229Asp
ENST00000681837.1:n.1561G>T
ENST00000681913.1:n.3069G>T
ENST00000681916.1:c.*713G>T	ENSP00000506477.1:n.*713G>T
ENST00000681930.1:n.3069G>T
ENST00000370834.9:c.1044G>T	ENSP00000359871.5:p.Glu348Asp
ENST00000370841.8:c.945G>T	ENSP00000359878.4:p.Glu315Asp
ENST00000420607.6:c.957G>T	ENSP00000409612.2:p.Glu319Asp
ENST00000481374.1:n.96G>T
ENST00000525808.5:c.*531G>T	ENSP00000434823.1:n.*531G>T
ENST00000526129.5:c.*729G>T	ENSP00000434092.1:n.*729G>T
ENST00000526196.5:c.*713G>T	ENSP00000431953.1:n.*713G>T
ENST00000528016.1:c.159G>T	ENSP00000434284.1:p.Glu53Asp
ENST00000529059.5:n.854G>T
ENST00000532207.5:n.675G>T
ENST00000534334.5:c.*529G>T	ENSP00000435584.1:n.*529G>T
ENST00000541113.5:c.837G>T	ENSP00000442324.1:p.Glu279Asp
NM_000016.5:c.945G>T	NP_000007.1:p.Glu315Asp
NM_001127328.2:c.957G>T	NP_001120800.1:p.Glu319Asp
NM_001286042.1:c.837G>T	NP_001272971.1:p.Glu279Asp
NM_001286043.1:c.1044G>T	NP_001272972.1:p.Glu348Asp
NM_001286044.1:c.378G>T	NP_001272973.1:p.Glu126Asp
NM_000016.6:c.945G>T MANE Select	NP_000007.1:p.Glu315Asp
NM_001127328.3:c.957G>T	NP_001120800.1:p.Glu319Asp
NM_001286042.2:c.837G>T	NP_001272971.1:p.Glu279Asp
NM_001286043.2:c.1044G>T	NP_001272972.1:p.Glu348Asp
NM_001286044.2:c.378G>T	NP_001272973.1:p.Glu126Asp