Canonical Allele Identifier: CA340815023

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205710A>T (hg19) ; chr1:g.75740025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740025A>T , CM000663.2:g.75740025A>T	GRCh38
NC_000001.10:g.76205710A>T , CM000663.1:g.76205710A>T	GRCh37
NC_000001.9:g.75978298A>T	NCBI36
NG_007045.2:g.20668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.514A>T MANE Select	ENSP00000359878.5:p.Ile172Leu
ENST00000473018.3:n.2638A>T
ENST00000541113.6:c.514A>T	ENSP00000442324.2:p.Ile172Leu
ENST00000679509.1:n.1476A>T
ENST00000679530.1:c.*282A>T	ENSP00000506454.1:n.*282A>T
ENST00000679615.1:n.2638A>T
ENST00000679687.1:c.76A>T	ENSP00000506598.1:p.Ile26Leu
ENST00000679704.1:c.*280A>T	ENSP00000505117.1:n.*280A>T
ENST00000679709.1:c.*477A>T	ENSP00000506623.1:n.*477A>T
ENST00000679804.1:n.253A>T
ENST00000679976.1:c.*98A>T	ENSP00000505565.1:n.*98A>T
ENST00000680166.1:n.3803A>T
ENST00000680517.1:c.*11A>T	ENSP00000505803.1:n.*11A>T
ENST00000680582.1:n.1476A>T
ENST00000680613.1:c.514A>T	ENSP00000506114.1:p.Ile172Leu
ENST00000680662.1:c.*428A>T	ENSP00000505080.1:n.*428A>T
ENST00000680691.1:c.*177A>T	ENSP00000506487.1:n.*177A>T
ENST00000680694.1:c.*102A>T	ENSP00000505658.1:n.*102A>T
ENST00000680743.1:c.*181A>T	ENSP00000505073.1:n.*181A>T
ENST00000680749.1:c.514A>T	ENSP00000505122.1:p.Ile172Leu
ENST00000680798.1:c.*98A>T	ENSP00000505670.1:n.*98A>T
ENST00000680805.1:c.514A>T	ENSP00000505447.1:p.Ile172Leu
ENST00000680844.1:c.*298A>T	ENSP00000506541.1:n.*298A>T
ENST00000680948.1:c.*381A>T	ENSP00000505441.1:n.*381A>T
ENST00000680964.1:c.514A>T	ENSP00000505961.1:p.Ile172Leu
ENST00000681037.1:c.514A>T	ENSP00000506025.1:p.Ile172Leu
ENST00000681063.1:c.514A>T	ENSP00000506616.1:p.Ile172Leu
ENST00000681209.1:c.*278A>T	ENSP00000505877.1:n.*278A>T
ENST00000681278.1:n.871A>T
ENST00000681289.1:n.871A>T
ENST00000681361.1:c.*181A>T	ENSP00000506679.1:n.*181A>T
ENST00000681430.1:c.514A>T	ENSP00000506301.1:p.Ile172Leu
ENST00000681446.1:c.*96A>T	ENSP00000506244.1:n.*96A>T
ENST00000681450.1:c.*185A>T	ENSP00000505660.1:n.*185A>T
ENST00000681548.1:c.*100A>T	ENSP00000505275.1:n.*100A>T
ENST00000681616.1:c.*282A>T	ENSP00000505111.1:n.*282A>T
ENST00000681621.1:c.*98A>T	ENSP00000505770.1:n.*98A>T
ENST00000681680.1:n.2638A>T
ENST00000681720.1:c.*55-5781A>T	ENSP00000505438.1:n.*55-5781A>T
ENST00000681730.1:n.736A>T
ENST00000681790.1:c.256A>T	ENSP00000505130.1:p.Ile86Leu
ENST00000681837.1:n.1130A>T
ENST00000681913.1:n.2638A>T
ENST00000681916.1:c.*282A>T	ENSP00000506477.1:n.*282A>T
ENST00000681930.1:n.2638A>T
ENST00000370834.9:c.613A>T	ENSP00000359871.5:p.Ile205Leu
ENST00000370841.8:c.514A>T	ENSP00000359878.4:p.Ile172Leu
ENST00000420607.6:c.526A>T	ENSP00000409612.2:p.Ile176Leu
ENST00000525808.5:c.*100A>T	ENSP00000434823.1:n.*100A>T
ENST00000526129.5:c.*298A>T	ENSP00000434092.1:n.*298A>T
ENST00000526196.5:c.*282A>T	ENSP00000431953.1:n.*282A>T
ENST00000526930.1:n.287A>T
ENST00000529059.5:n.423A>T
ENST00000530953.6:c.*11A>T	ENSP00000431372.1:n.*11A>T
ENST00000532509.5:c.*278A>T	ENSP00000432522.1:n.*278A>T
ENST00000534334.5:c.*98A>T	ENSP00000435584.1:n.*98A>T
ENST00000541113.5:c.406A>T	ENSP00000442324.1:p.Ile136Leu
NM_000016.5:c.514A>T	NP_000007.1:p.Ile172Leu
NM_001127328.2:c.526A>T	NP_001120800.1:p.Ile176Leu
NM_001286042.1:c.406A>T	NP_001272971.1:p.Ile136Leu
NM_001286043.1:c.613A>T	NP_001272972.1:p.Ile205Leu
NM_001286044.1:c.-54A>T	NP_001272973.1:n.-54A>T
NM_000016.6:c.514A>T MANE Select	NP_000007.1:p.Ile172Leu
NM_001127328.3:c.526A>T	NP_001120800.1:p.Ile176Leu
NM_001286042.2:c.406A>T	NP_001272971.1:p.Ile136Leu
NM_001286043.2:c.613A>T	NP_001272972.1:p.Ile205Leu
NM_001286044.2:c.-54A>T	NP_001272973.1:n.-54A>T