Canonical Allele Identifier: CA340818257

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227004T>A (hg19) ; chr1:g.75761319T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761319T>A , CM000663.2:g.75761319T>A	GRCh38
NC_000001.10:g.76227004T>A , CM000663.1:g.76227004T>A	GRCh37
NC_000001.9:g.75999592T>A	NCBI36
NG_007045.2:g.41962T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1143T>A MANE Select	ENSP00000359878.5:p.Phe381Leu
ENST00000473018.3:n.3267T>A
ENST00000532207.6:n.2154T>A
ENST00000541113.6:c.1047T>A	ENSP00000442324.2:p.Phe349Leu
ENST00000679509.1:n.2105T>A
ENST00000679530.1:c.*911T>A	ENSP00000506454.1:n.*911T>A
ENST00000679615.1:n.3158T>A
ENST00000679687.1:c.705T>A	ENSP00000506598.1:p.Phe235Leu
ENST00000679704.1:c.*909T>A	ENSP00000505117.1:n.*909T>A
ENST00000679709.1:c.*1106T>A	ENSP00000506623.1:n.*1106T>A
ENST00000679976.1:c.*727T>A	ENSP00000505565.1:n.*727T>A
ENST00000680166.1:n.4432T>A
ENST00000680315.1:n.1026T>A
ENST00000680517.1:c.*531T>A	ENSP00000505803.1:n.*531T>A
ENST00000680582.1:n.2105T>A
ENST00000680613.1:c.*636T>A	ENSP00000506114.1:n.*636T>A
ENST00000680662.1:c.*1057T>A	ENSP00000505080.1:n.*1057T>A
ENST00000680691.1:c.*806T>A	ENSP00000506487.1:n.*806T>A
ENST00000680694.1:c.*731T>A	ENSP00000505658.1:n.*731T>A
ENST00000680743.1:c.*932T>A	ENSP00000505073.1:n.*932T>A
ENST00000680749.1:c.*428T>A	ENSP00000505122.1:n.*428T>A
ENST00000680798.1:c.*618T>A	ENSP00000505670.1:n.*618T>A
ENST00000680805.1:c.1002T>A	ENSP00000505447.1:p.Phe334Leu
ENST00000680844.1:c.*927T>A	ENSP00000506541.1:n.*927T>A
ENST00000680948.1:c.*1010T>A	ENSP00000505441.1:n.*1010T>A
ENST00000680964.1:c.*236T>A	ENSP00000505961.1:n.*236T>A
ENST00000681037.1:c.*2627T>A	ENSP00000506025.1:n.*2627T>A
ENST00000681063.1:c.*412T>A	ENSP00000506616.1:n.*412T>A
ENST00000681209.1:c.*798T>A	ENSP00000505877.1:n.*798T>A
ENST00000681278.1:n.1845T>A
ENST00000681289.1:n.5138T>A
ENST00000681361.1:c.*810T>A	ENSP00000506679.1:n.*810T>A
ENST00000681430.1:c.*236T>A	ENSP00000506301.1:n.*236T>A
ENST00000681446.1:c.*847T>A	ENSP00000506244.1:n.*847T>A
ENST00000681450.1:c.*814T>A	ENSP00000505660.1:n.*814T>A
ENST00000681548.1:c.*729T>A	ENSP00000505275.1:n.*729T>A
ENST00000681616.1:c.*802T>A	ENSP00000505111.1:n.*802T>A
ENST00000681621.1:c.*727T>A	ENSP00000505770.1:n.*727T>A
ENST00000681680.1:n.3238T>A
ENST00000681720.1:c.*598T>A	ENSP00000505438.1:n.*598T>A
ENST00000681730.1:n.1365T>A
ENST00000681790.1:c.885T>A	ENSP00000505130.1:p.Phe295Leu
ENST00000681837.1:n.1759T>A
ENST00000681913.1:n.3389T>A
ENST00000681916.1:c.*911T>A	ENSP00000506477.1:n.*911T>A
ENST00000681930.1:n.3267T>A
ENST00000370834.9:c.1242T>A	ENSP00000359871.5:p.Phe414Leu
ENST00000370841.8:c.1143T>A	ENSP00000359878.4:p.Phe381Leu
ENST00000420607.6:c.1155T>A	ENSP00000409612.2:p.Phe385Leu
ENST00000481374.1:n.416T>A
ENST00000525808.5:c.*729T>A	ENSP00000434823.1:n.*729T>A
ENST00000526129.5:c.*927T>A	ENSP00000434092.1:n.*927T>A
ENST00000526196.5:c.*911T>A	ENSP00000431953.1:n.*911T>A
ENST00000528016.1:c.160-7858T>A	ENSP00000434284.1:n.160-7858T>A
ENST00000529059.5:n.1052T>A
ENST00000541113.5:c.1035T>A	ENSP00000442324.1:p.Phe345Leu
NM_000016.5:c.1143T>A	NP_000007.1:p.Phe381Leu
NM_001127328.2:c.1155T>A	NP_001120800.1:p.Phe385Leu
NM_001286042.1:c.1035T>A	NP_001272971.1:p.Phe345Leu
NM_001286043.1:c.1242T>A	NP_001272972.1:p.Phe414Leu
NM_001286044.1:c.576T>A	NP_001272973.1:p.Phe192Leu
NM_000016.6:c.1143T>A MANE Select	NP_000007.1:p.Phe381Leu
NM_001127328.3:c.1155T>A	NP_001120800.1:p.Phe385Leu
NM_001286042.2:c.1035T>A	NP_001272971.1:p.Phe345Leu
NM_001286043.2:c.1242T>A	NP_001272972.1:p.Phe414Leu
NM_001286044.2:c.576T>A	NP_001272973.1:p.Phe192Leu