Canonical Allele Identifier: CA340817050

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216178G>T (hg19) ; chr1:g.75750493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750493G>T , CM000663.2:g.75750493G>T	GRCh38
NC_000001.10:g.76216178G>T , CM000663.1:g.76216178G>T	GRCh37
NC_000001.9:g.75988766G>T	NCBI36
NG_007045.2:g.31136G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.892G>T MANE Select	ENSP00000359878.5:p.Glu298Ter
ENST00000473018.3:n.3016G>T
ENST00000532207.6:n.1781G>T
ENST00000541113.6:c.849+934G>T	ENSP00000442324.2:n.849+934G>T
ENST00000679509.1:n.1854G>T
ENST00000679530.1:c.*660G>T	ENSP00000506454.1:n.*660G>T
ENST00000679615.1:n.2907G>T
ENST00000679687.1:c.454G>T	ENSP00000506598.1:p.Glu152Ter
ENST00000679704.1:c.*658G>T	ENSP00000505117.1:n.*658G>T
ENST00000679709.1:c.*855G>T	ENSP00000506623.1:n.*855G>T
ENST00000679976.1:c.*476G>T	ENSP00000505565.1:n.*476G>T
ENST00000680166.1:n.4181G>T
ENST00000680315.1:n.775G>T
ENST00000680517.1:c.*280G>T	ENSP00000505803.1:n.*280G>T
ENST00000680582.1:n.1854G>T
ENST00000680613.1:c.*263G>T	ENSP00000506114.1:n.*263G>T
ENST00000680662.1:c.*806G>T	ENSP00000505080.1:n.*806G>T
ENST00000680691.1:c.*555G>T	ENSP00000506487.1:n.*555G>T
ENST00000680694.1:c.*480G>T	ENSP00000505658.1:n.*480G>T
ENST00000680743.1:c.*559G>T	ENSP00000505073.1:n.*559G>T
ENST00000680749.1:c.*177G>T	ENSP00000505122.1:n.*177G>T
ENST00000680798.1:c.*367G>T	ENSP00000505670.1:n.*367G>T
ENST00000680805.1:c.751G>T	ENSP00000505447.1:p.Glu251Ter
ENST00000680844.1:c.*676G>T	ENSP00000506541.1:n.*676G>T
ENST00000680948.1:c.*759G>T	ENSP00000505441.1:n.*759G>T
ENST00000680964.1:c.892G>T	ENSP00000505961.1:p.Glu298Ter
ENST00000681037.1:c.*2376G>T	ENSP00000506025.1:n.*2376G>T
ENST00000681063.1:c.*39G>T	ENSP00000506616.1:n.*39G>T
ENST00000681209.1:c.*547G>T	ENSP00000505877.1:n.*547G>T
ENST00000681278.1:n.1249G>T
ENST00000681289.1:n.4887G>T
ENST00000681361.1:c.*559G>T	ENSP00000506679.1:n.*559G>T
ENST00000681430.1:c.892G>T	ENSP00000506301.1:p.Glu298Ter
ENST00000681446.1:c.*474G>T	ENSP00000506244.1:n.*474G>T
ENST00000681450.1:c.*563G>T	ENSP00000505660.1:n.*563G>T
ENST00000681548.1:c.*478G>T	ENSP00000505275.1:n.*478G>T
ENST00000681616.1:c.*551G>T	ENSP00000505111.1:n.*551G>T
ENST00000681621.1:c.*476G>T	ENSP00000505770.1:n.*476G>T
ENST00000681680.1:n.2987G>T
ENST00000681720.1:c.*347G>T	ENSP00000505438.1:n.*347G>T
ENST00000681730.1:n.1114G>T
ENST00000681790.1:c.634G>T	ENSP00000505130.1:p.Glu212Ter
ENST00000681837.1:n.1508G>T
ENST00000681913.1:n.3016G>T
ENST00000681916.1:c.*660G>T	ENSP00000506477.1:n.*660G>T
ENST00000681930.1:n.3016G>T
ENST00000370834.9:c.991G>T	ENSP00000359871.5:p.Glu331Ter
ENST00000370841.8:c.892G>T	ENSP00000359878.4:p.Glu298Ter
ENST00000420607.6:c.904G>T	ENSP00000409612.2:p.Glu302Ter
ENST00000481374.1:n.43G>T
ENST00000525808.5:c.*478G>T	ENSP00000434823.1:n.*478G>T
ENST00000526129.5:c.*676G>T	ENSP00000434092.1:n.*676G>T
ENST00000526196.5:c.*660G>T	ENSP00000431953.1:n.*660G>T
ENST00000528016.1:c.106G>T	ENSP00000434284.1:p.Glu36Ter
ENST00000529059.5:n.801G>T
ENST00000532207.5:n.622G>T
ENST00000534334.5:c.*476G>T	ENSP00000435584.1:n.*476G>T
ENST00000541113.5:c.784G>T	ENSP00000442324.1:p.Glu262Ter
NM_000016.5:c.892G>T	NP_000007.1:p.Glu298Ter
NM_001127328.2:c.904G>T	NP_001120800.1:p.Glu302Ter
NM_001286042.1:c.784G>T	NP_001272971.1:p.Glu262Ter
NM_001286043.1:c.991G>T	NP_001272972.1:p.Glu331Ter
NM_001286044.1:c.325G>T	NP_001272973.1:p.Glu109Ter
NM_000016.6:c.892G>T MANE Select	NP_000007.1:p.Glu298Ter
NM_001127328.3:c.904G>T	NP_001120800.1:p.Glu302Ter
NM_001286042.2:c.784G>T	NP_001272971.1:p.Glu262Ter
NM_001286043.2:c.991G>T	NP_001272972.1:p.Glu331Ter
NM_001286044.2:c.325G>T	NP_001272973.1:p.Glu109Ter