Canonical Allele Identifier: CA340817948

Gene: ACADM

Linked Data

• COSMIC: COSM6234325 ; COSM6234326
• MyVariant Identifiers: chr1:g.76226858G>T (hg19) ; chr1:g.75761173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761173G>T , CM000663.2:g.75761173G>T	GRCh38
NC_000001.10:g.76226858G>T , CM000663.1:g.76226858G>T	GRCh37
NC_000001.9:g.75999446G>T	NCBI36
NG_007045.2:g.41816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.997G>T MANE Select	ENSP00000359878.5:p.Ala333Ser
ENST00000473018.3:n.3121G>T
ENST00000532207.6:n.2008G>T
ENST00000541113.6:c.901G>T	ENSP00000442324.2:p.Ala301Ser
ENST00000679509.1:n.1959G>T
ENST00000679530.1:c.*765G>T	ENSP00000506454.1:n.*765G>T
ENST00000679615.1:n.3012G>T
ENST00000679687.1:c.559G>T	ENSP00000506598.1:p.Ala187Ser
ENST00000679704.1:c.*763G>T	ENSP00000505117.1:n.*763G>T
ENST00000679709.1:c.*960G>T	ENSP00000506623.1:n.*960G>T
ENST00000679976.1:c.*581G>T	ENSP00000505565.1:n.*581G>T
ENST00000680166.1:n.4286G>T
ENST00000680315.1:n.880G>T
ENST00000680517.1:c.*385G>T	ENSP00000505803.1:n.*385G>T
ENST00000680582.1:n.1959G>T
ENST00000680613.1:c.*490G>T	ENSP00000506114.1:n.*490G>T
ENST00000680662.1:c.*911G>T	ENSP00000505080.1:n.*911G>T
ENST00000680691.1:c.*660G>T	ENSP00000506487.1:n.*660G>T
ENST00000680694.1:c.*585G>T	ENSP00000505658.1:n.*585G>T
ENST00000680743.1:c.*786G>T	ENSP00000505073.1:n.*786G>T
ENST00000680749.1:c.*282G>T	ENSP00000505122.1:n.*282G>T
ENST00000680798.1:c.*472G>T	ENSP00000505670.1:n.*472G>T
ENST00000680805.1:c.856G>T	ENSP00000505447.1:p.Ala286Ser
ENST00000680844.1:c.*781G>T	ENSP00000506541.1:n.*781G>T
ENST00000680948.1:c.*864G>T	ENSP00000505441.1:n.*864G>T
ENST00000680964.1:c.*90G>T	ENSP00000505961.1:n.*90G>T
ENST00000681037.1:c.*2481G>T	ENSP00000506025.1:n.*2481G>T
ENST00000681063.1:c.*266G>T	ENSP00000506616.1:n.*266G>T
ENST00000681209.1:c.*652G>T	ENSP00000505877.1:n.*652G>T
ENST00000681278.1:n.1699G>T
ENST00000681289.1:n.4992G>T
ENST00000681361.1:c.*664G>T	ENSP00000506679.1:n.*664G>T
ENST00000681430.1:c.*90G>T	ENSP00000506301.1:n.*90G>T
ENST00000681446.1:c.*701G>T	ENSP00000506244.1:n.*701G>T
ENST00000681450.1:c.*668G>T	ENSP00000505660.1:n.*668G>T
ENST00000681548.1:c.*583G>T	ENSP00000505275.1:n.*583G>T
ENST00000681616.1:c.*656G>T	ENSP00000505111.1:n.*656G>T
ENST00000681621.1:c.*581G>T	ENSP00000505770.1:n.*581G>T
ENST00000681680.1:n.3092G>T
ENST00000681720.1:c.*452G>T	ENSP00000505438.1:n.*452G>T
ENST00000681730.1:n.1219G>T
ENST00000681790.1:c.739G>T	ENSP00000505130.1:p.Ala247Ser
ENST00000681837.1:n.1613G>T
ENST00000681913.1:n.3243G>T
ENST00000681916.1:c.*765G>T	ENSP00000506477.1:n.*765G>T
ENST00000681930.1:n.3121G>T
ENST00000370834.9:c.1096G>T	ENSP00000359871.5:p.Ala366Ser
ENST00000370841.8:c.997G>T	ENSP00000359878.4:p.Ala333Ser
ENST00000420607.6:c.1009G>T	ENSP00000409612.2:p.Ala337Ser
ENST00000481374.1:n.270G>T
ENST00000525808.5:c.*583G>T	ENSP00000434823.1:n.*583G>T
ENST00000526129.5:c.*781G>T	ENSP00000434092.1:n.*781G>T
ENST00000526196.5:c.*765G>T	ENSP00000431953.1:n.*765G>T
ENST00000528016.1:c.160-8004G>T	ENSP00000434284.1:n.160-8004G>T
ENST00000529059.5:n.906G>T
ENST00000532207.5:n.727G>T
ENST00000534334.5:c.*738G>T	ENSP00000435584.1:n.*738G>T
ENST00000541113.5:c.889G>T	ENSP00000442324.1:p.Ala297Ser
NM_000016.5:c.997G>T	NP_000007.1:p.Ala333Ser
NM_001127328.2:c.1009G>T	NP_001120800.1:p.Ala337Ser
NM_001286042.1:c.889G>T	NP_001272971.1:p.Ala297Ser
NM_001286043.1:c.1096G>T	NP_001272972.1:p.Ala366Ser
NM_001286044.1:c.430G>T	NP_001272973.1:p.Ala144Ser
NM_000016.6:c.997G>T MANE Select	NP_000007.1:p.Ala333Ser
NM_001127328.3:c.1009G>T	NP_001120800.1:p.Ala337Ser
NM_001286042.2:c.889G>T	NP_001272971.1:p.Ala297Ser
NM_001286043.2:c.1096G>T	NP_001272972.1:p.Ala366Ser
NM_001286044.2:c.430G>T	NP_001272973.1:p.Ala144Ser