Canonical Allele Identifier: CA340818242

Gene: ACADM

Linked Data

• dbSNP Id: rs1408860769
• MyVariant Identifiers: chr1:g.76226997A>T (hg19) ; chr1:g.75761312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761312A>T , CM000663.2:g.75761312A>T	GRCh38
NC_000001.10:g.76226997A>T , CM000663.1:g.76226997A>T	GRCh37
NC_000001.9:g.75999585A>T	NCBI36
NG_007045.2:g.41955A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1136A>T MANE Select	ENSP00000359878.5:p.Asn379Ile
ENST00000473018.3:n.3260A>T
ENST00000532207.6:n.2147A>T
ENST00000541113.6:c.1040A>T	ENSP00000442324.2:p.Asn347Ile
ENST00000679509.1:n.2098A>T
ENST00000679530.1:c.*904A>T	ENSP00000506454.1:n.*904A>T
ENST00000679615.1:n.3151A>T
ENST00000679687.1:c.698A>T	ENSP00000506598.1:p.Asn233Ile
ENST00000679704.1:c.*902A>T	ENSP00000505117.1:n.*902A>T
ENST00000679709.1:c.*1099A>T	ENSP00000506623.1:n.*1099A>T
ENST00000679976.1:c.*720A>T	ENSP00000505565.1:n.*720A>T
ENST00000680166.1:n.4425A>T
ENST00000680315.1:n.1019A>T
ENST00000680517.1:c.*524A>T	ENSP00000505803.1:n.*524A>T
ENST00000680582.1:n.2098A>T
ENST00000680613.1:c.*629A>T	ENSP00000506114.1:n.*629A>T
ENST00000680662.1:c.*1050A>T	ENSP00000505080.1:n.*1050A>T
ENST00000680691.1:c.*799A>T	ENSP00000506487.1:n.*799A>T
ENST00000680694.1:c.*724A>T	ENSP00000505658.1:n.*724A>T
ENST00000680743.1:c.*925A>T	ENSP00000505073.1:n.*925A>T
ENST00000680749.1:c.*421A>T	ENSP00000505122.1:n.*421A>T
ENST00000680798.1:c.*611A>T	ENSP00000505670.1:n.*611A>T
ENST00000680805.1:c.995A>T	ENSP00000505447.1:p.Asn332Ile
ENST00000680844.1:c.*920A>T	ENSP00000506541.1:n.*920A>T
ENST00000680948.1:c.*1003A>T	ENSP00000505441.1:n.*1003A>T
ENST00000680964.1:c.*229A>T	ENSP00000505961.1:n.*229A>T
ENST00000681037.1:c.*2620A>T	ENSP00000506025.1:n.*2620A>T
ENST00000681063.1:c.*405A>T	ENSP00000506616.1:n.*405A>T
ENST00000681209.1:c.*791A>T	ENSP00000505877.1:n.*791A>T
ENST00000681278.1:n.1838A>T
ENST00000681289.1:n.5131A>T
ENST00000681361.1:c.*803A>T	ENSP00000506679.1:n.*803A>T
ENST00000681430.1:c.*229A>T	ENSP00000506301.1:n.*229A>T
ENST00000681446.1:c.*840A>T	ENSP00000506244.1:n.*840A>T
ENST00000681450.1:c.*807A>T	ENSP00000505660.1:n.*807A>T
ENST00000681548.1:c.*722A>T	ENSP00000505275.1:n.*722A>T
ENST00000681616.1:c.*795A>T	ENSP00000505111.1:n.*795A>T
ENST00000681621.1:c.*720A>T	ENSP00000505770.1:n.*720A>T
ENST00000681680.1:n.3231A>T
ENST00000681720.1:c.*591A>T	ENSP00000505438.1:n.*591A>T
ENST00000681730.1:n.1358A>T
ENST00000681790.1:c.878A>T	ENSP00000505130.1:p.Asn293Ile
ENST00000681837.1:n.1752A>T
ENST00000681913.1:n.3382A>T
ENST00000681916.1:c.*904A>T	ENSP00000506477.1:n.*904A>T
ENST00000681930.1:n.3260A>T
ENST00000370834.9:c.1235A>T	ENSP00000359871.5:p.Asn412Ile
ENST00000370841.8:c.1136A>T	ENSP00000359878.4:p.Asn379Ile
ENST00000420607.6:c.1148A>T	ENSP00000409612.2:p.Asn383Ile
ENST00000481374.1:n.409A>T
ENST00000525808.5:c.*722A>T	ENSP00000434823.1:n.*722A>T
ENST00000526129.5:c.*920A>T	ENSP00000434092.1:n.*920A>T
ENST00000526196.5:c.*904A>T	ENSP00000431953.1:n.*904A>T
ENST00000528016.1:c.160-7865A>T	ENSP00000434284.1:n.160-7865A>T
ENST00000529059.5:n.1045A>T
ENST00000541113.5:c.1028A>T	ENSP00000442324.1:p.Asn343Ile
NM_000016.5:c.1136A>T	NP_000007.1:p.Asn379Ile
NM_001127328.2:c.1148A>T	NP_001120800.1:p.Asn383Ile
NM_001286042.1:c.1028A>T	NP_001272971.1:p.Asn343Ile
NM_001286043.1:c.1235A>T	NP_001272972.1:p.Asn412Ile
NM_001286044.1:c.569A>T	NP_001272973.1:p.Asn190Ile
NM_000016.6:c.1136A>T MANE Select	NP_000007.1:p.Asn379Ile
NM_001127328.3:c.1148A>T	NP_001120800.1:p.Asn383Ile
NM_001286042.2:c.1028A>T	NP_001272971.1:p.Asn343Ile
NM_001286043.2:c.1235A>T	NP_001272972.1:p.Asn412Ile
NM_001286044.2:c.569A>T	NP_001272973.1:p.Asn190Ile