Canonical Allele Identifier: CA340817870

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226824T>G (hg19) ; chr1:g.75761139T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761139T>G , CM000663.2:g.75761139T>G	GRCh38
NC_000001.10:g.76226824T>G , CM000663.1:g.76226824T>G	GRCh37
NC_000001.9:g.75999412T>G	NCBI36
NG_007045.2:g.41782T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.963T>G MANE Select	ENSP00000359878.5:p.Phe321Leu
ENST00000473018.3:n.3087T>G
ENST00000532207.6:n.1974T>G
ENST00000541113.6:c.867T>G	ENSP00000442324.2:p.Phe289Leu
ENST00000679509.1:n.1925T>G
ENST00000679530.1:c.*731T>G	ENSP00000506454.1:n.*731T>G
ENST00000679615.1:n.2978T>G
ENST00000679687.1:c.525T>G	ENSP00000506598.1:p.Phe175Leu
ENST00000679704.1:c.*729T>G	ENSP00000505117.1:n.*729T>G
ENST00000679709.1:c.*926T>G	ENSP00000506623.1:n.*926T>G
ENST00000679976.1:c.*547T>G	ENSP00000505565.1:n.*547T>G
ENST00000680166.1:n.4252T>G
ENST00000680315.1:n.846T>G
ENST00000680517.1:c.*351T>G	ENSP00000505803.1:n.*351T>G
ENST00000680582.1:n.1925T>G
ENST00000680613.1:c.*456T>G	ENSP00000506114.1:n.*456T>G
ENST00000680662.1:c.*877T>G	ENSP00000505080.1:n.*877T>G
ENST00000680691.1:c.*626T>G	ENSP00000506487.1:n.*626T>G
ENST00000680694.1:c.*551T>G	ENSP00000505658.1:n.*551T>G
ENST00000680743.1:c.*752T>G	ENSP00000505073.1:n.*752T>G
ENST00000680749.1:c.*248T>G	ENSP00000505122.1:n.*248T>G
ENST00000680798.1:c.*438T>G	ENSP00000505670.1:n.*438T>G
ENST00000680805.1:c.822T>G	ENSP00000505447.1:p.Phe274Leu
ENST00000680844.1:c.*747T>G	ENSP00000506541.1:n.*747T>G
ENST00000680948.1:c.*830T>G	ENSP00000505441.1:n.*830T>G
ENST00000680964.1:c.*56T>G	ENSP00000505961.1:n.*56T>G
ENST00000681037.1:c.*2447T>G	ENSP00000506025.1:n.*2447T>G
ENST00000681063.1:c.*232T>G	ENSP00000506616.1:n.*232T>G
ENST00000681209.1:c.*618T>G	ENSP00000505877.1:n.*618T>G
ENST00000681278.1:n.1665T>G
ENST00000681289.1:n.4958T>G
ENST00000681361.1:c.*630T>G	ENSP00000506679.1:n.*630T>G
ENST00000681430.1:c.*56T>G	ENSP00000506301.1:n.*56T>G
ENST00000681446.1:c.*667T>G	ENSP00000506244.1:n.*667T>G
ENST00000681450.1:c.*634T>G	ENSP00000505660.1:n.*634T>G
ENST00000681548.1:c.*549T>G	ENSP00000505275.1:n.*549T>G
ENST00000681616.1:c.*622T>G	ENSP00000505111.1:n.*622T>G
ENST00000681621.1:c.*547T>G	ENSP00000505770.1:n.*547T>G
ENST00000681680.1:n.3058T>G
ENST00000681720.1:c.*418T>G	ENSP00000505438.1:n.*418T>G
ENST00000681730.1:n.1185T>G
ENST00000681790.1:c.705T>G	ENSP00000505130.1:p.Phe235Leu
ENST00000681837.1:n.1579T>G
ENST00000681913.1:n.3209T>G
ENST00000681916.1:c.*731T>G	ENSP00000506477.1:n.*731T>G
ENST00000681930.1:n.3087T>G
ENST00000370834.9:c.1062T>G	ENSP00000359871.5:p.Phe354Leu
ENST00000370841.8:c.963T>G	ENSP00000359878.4:p.Phe321Leu
ENST00000420607.6:c.975T>G	ENSP00000409612.2:p.Phe325Leu
ENST00000481374.1:n.236T>G
ENST00000525808.5:c.*549T>G	ENSP00000434823.1:n.*549T>G
ENST00000526129.5:c.*747T>G	ENSP00000434092.1:n.*747T>G
ENST00000526196.5:c.*731T>G	ENSP00000431953.1:n.*731T>G
ENST00000528016.1:c.160-8038T>G	ENSP00000434284.1:n.160-8038T>G
ENST00000529059.5:n.872T>G
ENST00000532207.5:n.693T>G
ENST00000534334.5:c.*704T>G	ENSP00000435584.1:n.*704T>G
ENST00000541113.5:c.855T>G	ENSP00000442324.1:p.Phe285Leu
NM_000016.5:c.963T>G	NP_000007.1:p.Phe321Leu
NM_001127328.2:c.975T>G	NP_001120800.1:p.Phe325Leu
NM_001286042.1:c.855T>G	NP_001272971.1:p.Phe285Leu
NM_001286043.1:c.1062T>G	NP_001272972.1:p.Phe354Leu
NM_001286044.1:c.396T>G	NP_001272973.1:p.Phe132Leu
NM_000016.6:c.963T>G MANE Select	NP_000007.1:p.Phe321Leu
NM_001127328.3:c.975T>G	NP_001120800.1:p.Phe325Leu
NM_001286042.2:c.855T>G	NP_001272971.1:p.Phe285Leu
NM_001286043.2:c.1062T>G	NP_001272972.1:p.Phe354Leu
NM_001286044.2:c.396T>G	NP_001272973.1:p.Phe132Leu