Canonical Allele Identifier: CA340817987

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226874A>T (hg19) ; chr1:g.75761189A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761189A>T , CM000663.2:g.75761189A>T	GRCh38
NC_000001.10:g.76226874A>T , CM000663.1:g.76226874A>T	GRCh37
NC_000001.9:g.75999462A>T	NCBI36
NG_007045.2:g.41832A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1013A>T MANE Select	ENSP00000359878.5:p.Gln338Leu
ENST00000473018.3:n.3137A>T
ENST00000532207.6:n.2024A>T
ENST00000541113.6:c.917A>T	ENSP00000442324.2:p.Gln306Leu
ENST00000679509.1:n.1975A>T
ENST00000679530.1:c.*781A>T	ENSP00000506454.1:n.*781A>T
ENST00000679615.1:n.3028A>T
ENST00000679687.1:c.575A>T	ENSP00000506598.1:p.Gln192Leu
ENST00000679704.1:c.*779A>T	ENSP00000505117.1:n.*779A>T
ENST00000679709.1:c.*976A>T	ENSP00000506623.1:n.*976A>T
ENST00000679976.1:c.*597A>T	ENSP00000505565.1:n.*597A>T
ENST00000680166.1:n.4302A>T
ENST00000680315.1:n.896A>T
ENST00000680517.1:c.*401A>T	ENSP00000505803.1:n.*401A>T
ENST00000680582.1:n.1975A>T
ENST00000680613.1:c.*506A>T	ENSP00000506114.1:n.*506A>T
ENST00000680662.1:c.*927A>T	ENSP00000505080.1:n.*927A>T
ENST00000680691.1:c.*676A>T	ENSP00000506487.1:n.*676A>T
ENST00000680694.1:c.*601A>T	ENSP00000505658.1:n.*601A>T
ENST00000680743.1:c.*802A>T	ENSP00000505073.1:n.*802A>T
ENST00000680749.1:c.*298A>T	ENSP00000505122.1:n.*298A>T
ENST00000680798.1:c.*488A>T	ENSP00000505670.1:n.*488A>T
ENST00000680805.1:c.872A>T	ENSP00000505447.1:p.Gln291Leu
ENST00000680844.1:c.*797A>T	ENSP00000506541.1:n.*797A>T
ENST00000680948.1:c.*880A>T	ENSP00000505441.1:n.*880A>T
ENST00000680964.1:c.*106A>T	ENSP00000505961.1:n.*106A>T
ENST00000681037.1:c.*2497A>T	ENSP00000506025.1:n.*2497A>T
ENST00000681063.1:c.*282A>T	ENSP00000506616.1:n.*282A>T
ENST00000681209.1:c.*668A>T	ENSP00000505877.1:n.*668A>T
ENST00000681278.1:n.1715A>T
ENST00000681289.1:n.5008A>T
ENST00000681361.1:c.*680A>T	ENSP00000506679.1:n.*680A>T
ENST00000681430.1:c.*106A>T	ENSP00000506301.1:n.*106A>T
ENST00000681446.1:c.*717A>T	ENSP00000506244.1:n.*717A>T
ENST00000681450.1:c.*684A>T	ENSP00000505660.1:n.*684A>T
ENST00000681548.1:c.*599A>T	ENSP00000505275.1:n.*599A>T
ENST00000681616.1:c.*672A>T	ENSP00000505111.1:n.*672A>T
ENST00000681621.1:c.*597A>T	ENSP00000505770.1:n.*597A>T
ENST00000681680.1:n.3108A>T
ENST00000681720.1:c.*468A>T	ENSP00000505438.1:n.*468A>T
ENST00000681730.1:n.1235A>T
ENST00000681790.1:c.755A>T	ENSP00000505130.1:p.Gln252Leu
ENST00000681837.1:n.1629A>T
ENST00000681913.1:n.3259A>T
ENST00000681916.1:c.*781A>T	ENSP00000506477.1:n.*781A>T
ENST00000681930.1:n.3137A>T
ENST00000370834.9:c.1112A>T	ENSP00000359871.5:p.Gln371Leu
ENST00000370841.8:c.1013A>T	ENSP00000359878.4:p.Gln338Leu
ENST00000420607.6:c.1025A>T	ENSP00000409612.2:p.Gln342Leu
ENST00000481374.1:n.286A>T
ENST00000525808.5:c.*599A>T	ENSP00000434823.1:n.*599A>T
ENST00000526129.5:c.*797A>T	ENSP00000434092.1:n.*797A>T
ENST00000526196.5:c.*781A>T	ENSP00000431953.1:n.*781A>T
ENST00000528016.1:c.160-7988A>T	ENSP00000434284.1:n.160-7988A>T
ENST00000529059.5:n.922A>T
ENST00000532207.5:n.743A>T
ENST00000534334.5:c.*754A>T	ENSP00000435584.1:n.*754A>T
ENST00000541113.5:c.905A>T	ENSP00000442324.1:p.Gln302Leu
NM_000016.5:c.1013A>T	NP_000007.1:p.Gln338Leu
NM_001127328.2:c.1025A>T	NP_001120800.1:p.Gln342Leu
NM_001286042.1:c.905A>T	NP_001272971.1:p.Gln302Leu
NM_001286043.1:c.1112A>T	NP_001272972.1:p.Gln371Leu
NM_001286044.1:c.446A>T	NP_001272973.1:p.Gln149Leu
NM_000016.6:c.1013A>T MANE Select	NP_000007.1:p.Gln338Leu
NM_001127328.3:c.1025A>T	NP_001120800.1:p.Gln342Leu
NM_001286042.2:c.905A>T	NP_001272971.1:p.Gln302Leu
NM_001286043.2:c.1112A>T	NP_001272972.1:p.Gln371Leu
NM_001286044.2:c.446A>T	NP_001272973.1:p.Gln149Leu