Canonical Allele Identifier: CA340818133

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226943C>T (hg19) ; chr1:g.75761258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761258C>T , CM000663.2:g.75761258C>T	GRCh38
NC_000001.10:g.76226943C>T , CM000663.1:g.76226943C>T	GRCh37
NC_000001.9:g.75999531C>T	NCBI36
NG_007045.2:g.41901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1082C>T MANE Select	ENSP00000359878.5:p.Ala361Val
ENST00000473018.3:n.3206C>T
ENST00000532207.6:n.2093C>T
ENST00000541113.6:c.986C>T	ENSP00000442324.2:p.Ala329Val
ENST00000679509.1:n.2044C>T
ENST00000679530.1:c.*850C>T	ENSP00000506454.1:n.*850C>T
ENST00000679615.1:n.3097C>T
ENST00000679687.1:c.644C>T	ENSP00000506598.1:p.Ala215Val
ENST00000679704.1:c.*848C>T	ENSP00000505117.1:n.*848C>T
ENST00000679709.1:c.*1045C>T	ENSP00000506623.1:n.*1045C>T
ENST00000679976.1:c.*666C>T	ENSP00000505565.1:n.*666C>T
ENST00000680166.1:n.4371C>T
ENST00000680315.1:n.965C>T
ENST00000680517.1:c.*470C>T	ENSP00000505803.1:n.*470C>T
ENST00000680582.1:n.2044C>T
ENST00000680613.1:c.*575C>T	ENSP00000506114.1:n.*575C>T
ENST00000680662.1:c.*996C>T	ENSP00000505080.1:n.*996C>T
ENST00000680691.1:c.*745C>T	ENSP00000506487.1:n.*745C>T
ENST00000680694.1:c.*670C>T	ENSP00000505658.1:n.*670C>T
ENST00000680743.1:c.*871C>T	ENSP00000505073.1:n.*871C>T
ENST00000680749.1:c.*367C>T	ENSP00000505122.1:n.*367C>T
ENST00000680798.1:c.*557C>T	ENSP00000505670.1:n.*557C>T
ENST00000680805.1:c.941C>T	ENSP00000505447.1:p.Ala314Val
ENST00000680844.1:c.*866C>T	ENSP00000506541.1:n.*866C>T
ENST00000680948.1:c.*949C>T	ENSP00000505441.1:n.*949C>T
ENST00000680964.1:c.*175C>T	ENSP00000505961.1:n.*175C>T
ENST00000681037.1:c.*2566C>T	ENSP00000506025.1:n.*2566C>T
ENST00000681063.1:c.*351C>T	ENSP00000506616.1:n.*351C>T
ENST00000681209.1:c.*737C>T	ENSP00000505877.1:n.*737C>T
ENST00000681278.1:n.1784C>T
ENST00000681289.1:n.5077C>T
ENST00000681361.1:c.*749C>T	ENSP00000506679.1:n.*749C>T
ENST00000681430.1:c.*175C>T	ENSP00000506301.1:n.*175C>T
ENST00000681446.1:c.*786C>T	ENSP00000506244.1:n.*786C>T
ENST00000681450.1:c.*753C>T	ENSP00000505660.1:n.*753C>T
ENST00000681548.1:c.*668C>T	ENSP00000505275.1:n.*668C>T
ENST00000681616.1:c.*741C>T	ENSP00000505111.1:n.*741C>T
ENST00000681621.1:c.*666C>T	ENSP00000505770.1:n.*666C>T
ENST00000681680.1:n.3177C>T
ENST00000681720.1:c.*537C>T	ENSP00000505438.1:n.*537C>T
ENST00000681730.1:n.1304C>T
ENST00000681790.1:c.824C>T	ENSP00000505130.1:p.Ala275Val
ENST00000681837.1:n.1698C>T
ENST00000681913.1:n.3328C>T
ENST00000681916.1:c.*850C>T	ENSP00000506477.1:n.*850C>T
ENST00000681930.1:n.3206C>T
ENST00000370834.9:c.1181C>T	ENSP00000359871.5:p.Ala394Val
ENST00000370841.8:c.1082C>T	ENSP00000359878.4:p.Ala361Val
ENST00000420607.6:c.1094C>T	ENSP00000409612.2:p.Ala365Val
ENST00000481374.1:n.355C>T
ENST00000525808.5:c.*668C>T	ENSP00000434823.1:n.*668C>T
ENST00000526129.5:c.*866C>T	ENSP00000434092.1:n.*866C>T
ENST00000526196.5:c.*850C>T	ENSP00000431953.1:n.*850C>T
ENST00000528016.1:c.160-7919C>T	ENSP00000434284.1:n.160-7919C>T
ENST00000529059.5:n.991C>T
ENST00000541113.5:c.974C>T	ENSP00000442324.1:p.Ala325Val
NM_000016.5:c.1082C>T	NP_000007.1:p.Ala361Val
NM_001127328.2:c.1094C>T	NP_001120800.1:p.Ala365Val
NM_001286042.1:c.974C>T	NP_001272971.1:p.Ala325Val
NM_001286043.1:c.1181C>T	NP_001272972.1:p.Ala394Val
NM_001286044.1:c.515C>T	NP_001272973.1:p.Ala172Val
NM_000016.6:c.1082C>T MANE Select	NP_000007.1:p.Ala361Val
NM_001127328.3:c.1094C>T	NP_001120800.1:p.Ala365Val
NM_001286042.2:c.974C>T	NP_001272971.1:p.Ala325Val
NM_001286043.2:c.1181C>T	NP_001272972.1:p.Ala394Val
NM_001286044.2:c.515C>T	NP_001272973.1:p.Ala172Val