Canonical Allele Identifier: CA340817939

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226853A>T (hg19) ; chr1:g.75761168A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761168A>T , CM000663.2:g.75761168A>T	GRCh38
NC_000001.10:g.76226853A>T , CM000663.1:g.76226853A>T	GRCh37
NC_000001.9:g.75999441A>T	NCBI36
NG_007045.2:g.41811A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.992A>T MANE Select	ENSP00000359878.5:p.Glu331Val
ENST00000473018.3:n.3116A>T
ENST00000532207.6:n.2003A>T
ENST00000541113.6:c.896A>T	ENSP00000442324.2:p.Glu299Val
ENST00000679509.1:n.1954A>T
ENST00000679530.1:c.*760A>T	ENSP00000506454.1:n.*760A>T
ENST00000679615.1:n.3007A>T
ENST00000679687.1:c.554A>T	ENSP00000506598.1:p.Glu185Val
ENST00000679704.1:c.*758A>T	ENSP00000505117.1:n.*758A>T
ENST00000679709.1:c.*955A>T	ENSP00000506623.1:n.*955A>T
ENST00000679976.1:c.*576A>T	ENSP00000505565.1:n.*576A>T
ENST00000680166.1:n.4281A>T
ENST00000680315.1:n.875A>T
ENST00000680517.1:c.*380A>T	ENSP00000505803.1:n.*380A>T
ENST00000680582.1:n.1954A>T
ENST00000680613.1:c.*485A>T	ENSP00000506114.1:n.*485A>T
ENST00000680662.1:c.*906A>T	ENSP00000505080.1:n.*906A>T
ENST00000680691.1:c.*655A>T	ENSP00000506487.1:n.*655A>T
ENST00000680694.1:c.*580A>T	ENSP00000505658.1:n.*580A>T
ENST00000680743.1:c.*781A>T	ENSP00000505073.1:n.*781A>T
ENST00000680749.1:c.*277A>T	ENSP00000505122.1:n.*277A>T
ENST00000680798.1:c.*467A>T	ENSP00000505670.1:n.*467A>T
ENST00000680805.1:c.851A>T	ENSP00000505447.1:p.Glu284Val
ENST00000680844.1:c.*776A>T	ENSP00000506541.1:n.*776A>T
ENST00000680948.1:c.*859A>T	ENSP00000505441.1:n.*859A>T
ENST00000680964.1:c.*85A>T	ENSP00000505961.1:n.*85A>T
ENST00000681037.1:c.*2476A>T	ENSP00000506025.1:n.*2476A>T
ENST00000681063.1:c.*261A>T	ENSP00000506616.1:n.*261A>T
ENST00000681209.1:c.*647A>T	ENSP00000505877.1:n.*647A>T
ENST00000681278.1:n.1694A>T
ENST00000681289.1:n.4987A>T
ENST00000681361.1:c.*659A>T	ENSP00000506679.1:n.*659A>T
ENST00000681430.1:c.*85A>T	ENSP00000506301.1:n.*85A>T
ENST00000681446.1:c.*696A>T	ENSP00000506244.1:n.*696A>T
ENST00000681450.1:c.*663A>T	ENSP00000505660.1:n.*663A>T
ENST00000681548.1:c.*578A>T	ENSP00000505275.1:n.*578A>T
ENST00000681616.1:c.*651A>T	ENSP00000505111.1:n.*651A>T
ENST00000681621.1:c.*576A>T	ENSP00000505770.1:n.*576A>T
ENST00000681680.1:n.3087A>T
ENST00000681720.1:c.*447A>T	ENSP00000505438.1:n.*447A>T
ENST00000681730.1:n.1214A>T
ENST00000681790.1:c.734A>T	ENSP00000505130.1:p.Glu245Val
ENST00000681837.1:n.1608A>T
ENST00000681913.1:n.3238A>T
ENST00000681916.1:c.*760A>T	ENSP00000506477.1:n.*760A>T
ENST00000681930.1:n.3116A>T
ENST00000370834.9:c.1091A>T	ENSP00000359871.5:p.Glu364Val
ENST00000370841.8:c.992A>T	ENSP00000359878.4:p.Glu331Val
ENST00000420607.6:c.1004A>T	ENSP00000409612.2:p.Glu335Val
ENST00000481374.1:n.265A>T
ENST00000525808.5:c.*578A>T	ENSP00000434823.1:n.*578A>T
ENST00000526129.5:c.*776A>T	ENSP00000434092.1:n.*776A>T
ENST00000526196.5:c.*760A>T	ENSP00000431953.1:n.*760A>T
ENST00000528016.1:c.160-8009A>T	ENSP00000434284.1:n.160-8009A>T
ENST00000529059.5:n.901A>T
ENST00000532207.5:n.722A>T
ENST00000534334.5:c.*733A>T	ENSP00000435584.1:n.*733A>T
ENST00000541113.5:c.884A>T	ENSP00000442324.1:p.Glu295Val
NM_000016.5:c.992A>T	NP_000007.1:p.Glu331Val
NM_001127328.2:c.1004A>T	NP_001120800.1:p.Glu335Val
NM_001286042.1:c.884A>T	NP_001272971.1:p.Glu295Val
NM_001286043.1:c.1091A>T	NP_001272972.1:p.Glu364Val
NM_001286044.1:c.425A>T	NP_001272973.1:p.Glu142Val
NM_000016.6:c.992A>T MANE Select	NP_000007.1:p.Glu331Val
NM_001127328.3:c.1004A>T	NP_001120800.1:p.Glu335Val
NM_001286042.2:c.884A>T	NP_001272971.1:p.Glu295Val
NM_001286043.2:c.1091A>T	NP_001272972.1:p.Glu364Val
NM_001286044.2:c.425A>T	NP_001272973.1:p.Glu142Val