Canonical Allele Identifier: CA340817954

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226861A>T (hg19) ; chr1:g.75761176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761176A>T , CM000663.2:g.75761176A>T	GRCh38
NC_000001.10:g.76226861A>T , CM000663.1:g.76226861A>T	GRCh37
NC_000001.9:g.75999449A>T	NCBI36
NG_007045.2:g.41819A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1000A>T MANE Select	ENSP00000359878.5:p.Arg334Ter
ENST00000473018.3:n.3124A>T
ENST00000532207.6:n.2011A>T
ENST00000541113.6:c.904A>T	ENSP00000442324.2:p.Arg302Ter
ENST00000679509.1:n.1962A>T
ENST00000679530.1:c.*768A>T	ENSP00000506454.1:n.*768A>T
ENST00000679615.1:n.3015A>T
ENST00000679687.1:c.562A>T	ENSP00000506598.1:p.Arg188Ter
ENST00000679704.1:c.*766A>T	ENSP00000505117.1:n.*766A>T
ENST00000679709.1:c.*963A>T	ENSP00000506623.1:n.*963A>T
ENST00000679976.1:c.*584A>T	ENSP00000505565.1:n.*584A>T
ENST00000680166.1:n.4289A>T
ENST00000680315.1:n.883A>T
ENST00000680517.1:c.*388A>T	ENSP00000505803.1:n.*388A>T
ENST00000680582.1:n.1962A>T
ENST00000680613.1:c.*493A>T	ENSP00000506114.1:n.*493A>T
ENST00000680662.1:c.*914A>T	ENSP00000505080.1:n.*914A>T
ENST00000680691.1:c.*663A>T	ENSP00000506487.1:n.*663A>T
ENST00000680694.1:c.*588A>T	ENSP00000505658.1:n.*588A>T
ENST00000680743.1:c.*789A>T	ENSP00000505073.1:n.*789A>T
ENST00000680749.1:c.*285A>T	ENSP00000505122.1:n.*285A>T
ENST00000680798.1:c.*475A>T	ENSP00000505670.1:n.*475A>T
ENST00000680805.1:c.859A>T	ENSP00000505447.1:p.Arg287Ter
ENST00000680844.1:c.*784A>T	ENSP00000506541.1:n.*784A>T
ENST00000680948.1:c.*867A>T	ENSP00000505441.1:n.*867A>T
ENST00000680964.1:c.*93A>T	ENSP00000505961.1:n.*93A>T
ENST00000681037.1:c.*2484A>T	ENSP00000506025.1:n.*2484A>T
ENST00000681063.1:c.*269A>T	ENSP00000506616.1:n.*269A>T
ENST00000681209.1:c.*655A>T	ENSP00000505877.1:n.*655A>T
ENST00000681278.1:n.1702A>T
ENST00000681289.1:n.4995A>T
ENST00000681361.1:c.*667A>T	ENSP00000506679.1:n.*667A>T
ENST00000681430.1:c.*93A>T	ENSP00000506301.1:n.*93A>T
ENST00000681446.1:c.*704A>T	ENSP00000506244.1:n.*704A>T
ENST00000681450.1:c.*671A>T	ENSP00000505660.1:n.*671A>T
ENST00000681548.1:c.*586A>T	ENSP00000505275.1:n.*586A>T
ENST00000681616.1:c.*659A>T	ENSP00000505111.1:n.*659A>T
ENST00000681621.1:c.*584A>T	ENSP00000505770.1:n.*584A>T
ENST00000681680.1:n.3095A>T
ENST00000681720.1:c.*455A>T	ENSP00000505438.1:n.*455A>T
ENST00000681730.1:n.1222A>T
ENST00000681790.1:c.742A>T	ENSP00000505130.1:p.Arg248Ter
ENST00000681837.1:n.1616A>T
ENST00000681913.1:n.3246A>T
ENST00000681916.1:c.*768A>T	ENSP00000506477.1:n.*768A>T
ENST00000681930.1:n.3124A>T
ENST00000370834.9:c.1099A>T	ENSP00000359871.5:p.Arg367Ter
ENST00000370841.8:c.1000A>T	ENSP00000359878.4:p.Arg334Ter
ENST00000420607.6:c.1012A>T	ENSP00000409612.2:p.Arg338Ter
ENST00000481374.1:n.273A>T
ENST00000525808.5:c.*586A>T	ENSP00000434823.1:n.*586A>T
ENST00000526129.5:c.*784A>T	ENSP00000434092.1:n.*784A>T
ENST00000526196.5:c.*768A>T	ENSP00000431953.1:n.*768A>T
ENST00000528016.1:c.160-8001A>T	ENSP00000434284.1:n.160-8001A>T
ENST00000529059.5:n.909A>T
ENST00000532207.5:n.730A>T
ENST00000534334.5:c.*741A>T	ENSP00000435584.1:n.*741A>T
ENST00000541113.5:c.892A>T	ENSP00000442324.1:p.Arg298Ter
NM_000016.5:c.1000A>T	NP_000007.1:p.Arg334Ter
NM_001127328.2:c.1012A>T	NP_001120800.1:p.Arg338Ter
NM_001286042.1:c.892A>T	NP_001272971.1:p.Arg298Ter
NM_001286043.1:c.1099A>T	NP_001272972.1:p.Arg367Ter
NM_001286044.1:c.433A>T	NP_001272973.1:p.Arg145Ter
NM_000016.6:c.1000A>T MANE Select	NP_000007.1:p.Arg334Ter
NM_001127328.3:c.1012A>T	NP_001120800.1:p.Arg338Ter
NM_001286042.2:c.892A>T	NP_001272971.1:p.Arg298Ter
NM_001286043.2:c.1099A>T	NP_001272972.1:p.Arg367Ter
NM_001286044.2:c.433A>T	NP_001272973.1:p.Arg145Ter