Canonical Allele Identifier: CA340817128

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216200A>T (hg19) ; chr1:g.75750515A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750515A>T , CM000663.2:g.75750515A>T	GRCh38
NC_000001.10:g.76216200A>T , CM000663.1:g.76216200A>T	GRCh37
NC_000001.9:g.75988788A>T	NCBI36
NG_007045.2:g.31158A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.914A>T MANE Select	ENSP00000359878.5:p.Glu305Val
ENST00000473018.3:n.3038A>T
ENST00000532207.6:n.1803A>T
ENST00000541113.6:c.849+956A>T	ENSP00000442324.2:n.849+956A>T
ENST00000679509.1:n.1876A>T
ENST00000679530.1:c.*682A>T	ENSP00000506454.1:n.*682A>T
ENST00000679615.1:n.2929A>T
ENST00000679687.1:c.476A>T	ENSP00000506598.1:p.Glu159Val
ENST00000679704.1:c.*680A>T	ENSP00000505117.1:n.*680A>T
ENST00000679709.1:c.*877A>T	ENSP00000506623.1:n.*877A>T
ENST00000679976.1:c.*498A>T	ENSP00000505565.1:n.*498A>T
ENST00000680166.1:n.4203A>T
ENST00000680315.1:n.797A>T
ENST00000680517.1:c.*302A>T	ENSP00000505803.1:n.*302A>T
ENST00000680582.1:n.1876A>T
ENST00000680613.1:c.*285A>T	ENSP00000506114.1:n.*285A>T
ENST00000680662.1:c.*828A>T	ENSP00000505080.1:n.*828A>T
ENST00000680691.1:c.*577A>T	ENSP00000506487.1:n.*577A>T
ENST00000680694.1:c.*502A>T	ENSP00000505658.1:n.*502A>T
ENST00000680743.1:c.*581A>T	ENSP00000505073.1:n.*581A>T
ENST00000680749.1:c.*199A>T	ENSP00000505122.1:n.*199A>T
ENST00000680798.1:c.*389A>T	ENSP00000505670.1:n.*389A>T
ENST00000680805.1:c.773A>T	ENSP00000505447.1:p.Glu258Val
ENST00000680844.1:c.*698A>T	ENSP00000506541.1:n.*698A>T
ENST00000680948.1:c.*781A>T	ENSP00000505441.1:n.*781A>T
ENST00000680964.1:c.914A>T	ENSP00000505961.1:p.Glu305Val
ENST00000681037.1:c.*2398A>T	ENSP00000506025.1:n.*2398A>T
ENST00000681063.1:c.*61A>T	ENSP00000506616.1:n.*61A>T
ENST00000681209.1:c.*569A>T	ENSP00000505877.1:n.*569A>T
ENST00000681278.1:n.1271A>T
ENST00000681289.1:n.4909A>T
ENST00000681361.1:c.*581A>T	ENSP00000506679.1:n.*581A>T
ENST00000681430.1:c.914A>T	ENSP00000506301.1:p.Glu305Val
ENST00000681446.1:c.*496A>T	ENSP00000506244.1:n.*496A>T
ENST00000681450.1:c.*585A>T	ENSP00000505660.1:n.*585A>T
ENST00000681548.1:c.*500A>T	ENSP00000505275.1:n.*500A>T
ENST00000681616.1:c.*573A>T	ENSP00000505111.1:n.*573A>T
ENST00000681621.1:c.*498A>T	ENSP00000505770.1:n.*498A>T
ENST00000681680.1:n.3009A>T
ENST00000681720.1:c.*369A>T	ENSP00000505438.1:n.*369A>T
ENST00000681730.1:n.1136A>T
ENST00000681790.1:c.656A>T	ENSP00000505130.1:p.Glu219Val
ENST00000681837.1:n.1530A>T
ENST00000681913.1:n.3038A>T
ENST00000681916.1:c.*682A>T	ENSP00000506477.1:n.*682A>T
ENST00000681930.1:n.3038A>T
ENST00000370834.9:c.1013A>T	ENSP00000359871.5:p.Glu338Val
ENST00000370841.8:c.914A>T	ENSP00000359878.4:p.Glu305Val
ENST00000420607.6:c.926A>T	ENSP00000409612.2:p.Glu309Val
ENST00000481374.1:n.65A>T
ENST00000525808.5:c.*500A>T	ENSP00000434823.1:n.*500A>T
ENST00000526129.5:c.*698A>T	ENSP00000434092.1:n.*698A>T
ENST00000526196.5:c.*682A>T	ENSP00000431953.1:n.*682A>T
ENST00000528016.1:c.128A>T	ENSP00000434284.1:p.Glu43Val
ENST00000529059.5:n.823A>T
ENST00000532207.5:n.644A>T
ENST00000534334.5:c.*498A>T	ENSP00000435584.1:n.*498A>T
ENST00000541113.5:c.806A>T	ENSP00000442324.1:p.Glu269Val
NM_000016.5:c.914A>T	NP_000007.1:p.Glu305Val
NM_001127328.2:c.926A>T	NP_001120800.1:p.Glu309Val
NM_001286042.1:c.806A>T	NP_001272971.1:p.Glu269Val
NM_001286043.1:c.1013A>T	NP_001272972.1:p.Glu338Val
NM_001286044.1:c.347A>T	NP_001272973.1:p.Glu116Val
NM_000016.6:c.914A>T MANE Select	NP_000007.1:p.Glu305Val
NM_001127328.3:c.926A>T	NP_001120800.1:p.Glu309Val
NM_001286042.2:c.806A>T	NP_001272971.1:p.Glu269Val
NM_001286043.2:c.1013A>T	NP_001272972.1:p.Glu338Val
NM_001286044.2:c.347A>T	NP_001272973.1:p.Glu116Val