Canonical Allele Identifier: CA340818153

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226954G>T (hg19) ; chr1:g.75761269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761269G>T , CM000663.2:g.75761269G>T	GRCh38
NC_000001.10:g.76226954G>T , CM000663.1:g.76226954G>T	GRCh37
NC_000001.9:g.75999542G>T	NCBI36
NG_007045.2:g.41912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1093G>T MANE Select	ENSP00000359878.5:p.Ala365Ser
ENST00000473018.3:n.3217G>T
ENST00000532207.6:n.2104G>T
ENST00000541113.6:c.997G>T	ENSP00000442324.2:p.Ala333Ser
ENST00000679509.1:n.2055G>T
ENST00000679530.1:c.*861G>T	ENSP00000506454.1:n.*861G>T
ENST00000679615.1:n.3108G>T
ENST00000679687.1:c.655G>T	ENSP00000506598.1:p.Ala219Ser
ENST00000679704.1:c.*859G>T	ENSP00000505117.1:n.*859G>T
ENST00000679709.1:c.*1056G>T	ENSP00000506623.1:n.*1056G>T
ENST00000679976.1:c.*677G>T	ENSP00000505565.1:n.*677G>T
ENST00000680166.1:n.4382G>T
ENST00000680315.1:n.976G>T
ENST00000680517.1:c.*481G>T	ENSP00000505803.1:n.*481G>T
ENST00000680582.1:n.2055G>T
ENST00000680613.1:c.*586G>T	ENSP00000506114.1:n.*586G>T
ENST00000680662.1:c.*1007G>T	ENSP00000505080.1:n.*1007G>T
ENST00000680691.1:c.*756G>T	ENSP00000506487.1:n.*756G>T
ENST00000680694.1:c.*681G>T	ENSP00000505658.1:n.*681G>T
ENST00000680743.1:c.*882G>T	ENSP00000505073.1:n.*882G>T
ENST00000680749.1:c.*378G>T	ENSP00000505122.1:n.*378G>T
ENST00000680798.1:c.*568G>T	ENSP00000505670.1:n.*568G>T
ENST00000680805.1:c.952G>T	ENSP00000505447.1:p.Ala318Ser
ENST00000680844.1:c.*877G>T	ENSP00000506541.1:n.*877G>T
ENST00000680948.1:c.*960G>T	ENSP00000505441.1:n.*960G>T
ENST00000680964.1:c.*186G>T	ENSP00000505961.1:n.*186G>T
ENST00000681037.1:c.*2577G>T	ENSP00000506025.1:n.*2577G>T
ENST00000681063.1:c.*362G>T	ENSP00000506616.1:n.*362G>T
ENST00000681209.1:c.*748G>T	ENSP00000505877.1:n.*748G>T
ENST00000681278.1:n.1795G>T
ENST00000681289.1:n.5088G>T
ENST00000681361.1:c.*760G>T	ENSP00000506679.1:n.*760G>T
ENST00000681430.1:c.*186G>T	ENSP00000506301.1:n.*186G>T
ENST00000681446.1:c.*797G>T	ENSP00000506244.1:n.*797G>T
ENST00000681450.1:c.*764G>T	ENSP00000505660.1:n.*764G>T
ENST00000681548.1:c.*679G>T	ENSP00000505275.1:n.*679G>T
ENST00000681616.1:c.*752G>T	ENSP00000505111.1:n.*752G>T
ENST00000681621.1:c.*677G>T	ENSP00000505770.1:n.*677G>T
ENST00000681680.1:n.3188G>T
ENST00000681720.1:c.*548G>T	ENSP00000505438.1:n.*548G>T
ENST00000681730.1:n.1315G>T
ENST00000681790.1:c.835G>T	ENSP00000505130.1:p.Ala279Ser
ENST00000681837.1:n.1709G>T
ENST00000681913.1:n.3339G>T
ENST00000681916.1:c.*861G>T	ENSP00000506477.1:n.*861G>T
ENST00000681930.1:n.3217G>T
ENST00000370834.9:c.1192G>T	ENSP00000359871.5:p.Ala398Ser
ENST00000370841.8:c.1093G>T	ENSP00000359878.4:p.Ala365Ser
ENST00000420607.6:c.1105G>T	ENSP00000409612.2:p.Ala369Ser
ENST00000481374.1:n.366G>T
ENST00000525808.5:c.*679G>T	ENSP00000434823.1:n.*679G>T
ENST00000526129.5:c.*877G>T	ENSP00000434092.1:n.*877G>T
ENST00000526196.5:c.*861G>T	ENSP00000431953.1:n.*861G>T
ENST00000528016.1:c.160-7908G>T	ENSP00000434284.1:n.160-7908G>T
ENST00000529059.5:n.1002G>T
ENST00000541113.5:c.985G>T	ENSP00000442324.1:p.Ala329Ser
NM_000016.5:c.1093G>T	NP_000007.1:p.Ala365Ser
NM_001127328.2:c.1105G>T	NP_001120800.1:p.Ala369Ser
NM_001286042.1:c.985G>T	NP_001272971.1:p.Ala329Ser
NM_001286043.1:c.1192G>T	NP_001272972.1:p.Ala398Ser
NM_001286044.1:c.526G>T	NP_001272973.1:p.Ala176Ser
NM_000016.6:c.1093G>T MANE Select	NP_000007.1:p.Ala365Ser
NM_001127328.3:c.1105G>T	NP_001120800.1:p.Ala369Ser
NM_001286042.2:c.985G>T	NP_001272971.1:p.Ala329Ser
NM_001286043.2:c.1192G>T	NP_001272972.1:p.Ala398Ser
NM_001286044.2:c.526G>T	NP_001272973.1:p.Ala176Ser