Canonical Allele Identifier: CA340818182

Gene: ACADM

Linked Data

• dbSNP Id: rs1648838973
• MyVariant Identifiers: chr1:g.76226967C>T (hg19) ; chr1:g.75761282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761282C>T , CM000663.2:g.75761282C>T	GRCh38
NC_000001.10:g.76226967C>T , CM000663.1:g.76226967C>T	GRCh37
NC_000001.9:g.75999555C>T	NCBI36
NG_007045.2:g.41925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1106C>T MANE Select	ENSP00000359878.5:p.Ala369Val
ENST00000473018.3:n.3230C>T
ENST00000532207.6:n.2117C>T
ENST00000541113.6:c.1010C>T	ENSP00000442324.2:p.Ala337Val
ENST00000679509.1:n.2068C>T
ENST00000679530.1:c.*874C>T	ENSP00000506454.1:n.*874C>T
ENST00000679615.1:n.3121C>T
ENST00000679687.1:c.668C>T	ENSP00000506598.1:p.Ala223Val
ENST00000679704.1:c.*872C>T	ENSP00000505117.1:n.*872C>T
ENST00000679709.1:c.*1069C>T	ENSP00000506623.1:n.*1069C>T
ENST00000679976.1:c.*690C>T	ENSP00000505565.1:n.*690C>T
ENST00000680166.1:n.4395C>T
ENST00000680315.1:n.989C>T
ENST00000680517.1:c.*494C>T	ENSP00000505803.1:n.*494C>T
ENST00000680582.1:n.2068C>T
ENST00000680613.1:c.*599C>T	ENSP00000506114.1:n.*599C>T
ENST00000680662.1:c.*1020C>T	ENSP00000505080.1:n.*1020C>T
ENST00000680691.1:c.*769C>T	ENSP00000506487.1:n.*769C>T
ENST00000680694.1:c.*694C>T	ENSP00000505658.1:n.*694C>T
ENST00000680743.1:c.*895C>T	ENSP00000505073.1:n.*895C>T
ENST00000680749.1:c.*391C>T	ENSP00000505122.1:n.*391C>T
ENST00000680798.1:c.*581C>T	ENSP00000505670.1:n.*581C>T
ENST00000680805.1:c.965C>T	ENSP00000505447.1:p.Ala322Val
ENST00000680844.1:c.*890C>T	ENSP00000506541.1:n.*890C>T
ENST00000680948.1:c.*973C>T	ENSP00000505441.1:n.*973C>T
ENST00000680964.1:c.*199C>T	ENSP00000505961.1:n.*199C>T
ENST00000681037.1:c.*2590C>T	ENSP00000506025.1:n.*2590C>T
ENST00000681063.1:c.*375C>T	ENSP00000506616.1:n.*375C>T
ENST00000681209.1:c.*761C>T	ENSP00000505877.1:n.*761C>T
ENST00000681278.1:n.1808C>T
ENST00000681289.1:n.5101C>T
ENST00000681361.1:c.*773C>T	ENSP00000506679.1:n.*773C>T
ENST00000681430.1:c.*199C>T	ENSP00000506301.1:n.*199C>T
ENST00000681446.1:c.*810C>T	ENSP00000506244.1:n.*810C>T
ENST00000681450.1:c.*777C>T	ENSP00000505660.1:n.*777C>T
ENST00000681548.1:c.*692C>T	ENSP00000505275.1:n.*692C>T
ENST00000681616.1:c.*765C>T	ENSP00000505111.1:n.*765C>T
ENST00000681621.1:c.*690C>T	ENSP00000505770.1:n.*690C>T
ENST00000681680.1:n.3201C>T
ENST00000681720.1:c.*561C>T	ENSP00000505438.1:n.*561C>T
ENST00000681730.1:n.1328C>T
ENST00000681790.1:c.848C>T	ENSP00000505130.1:p.Ala283Val
ENST00000681837.1:n.1722C>T
ENST00000681913.1:n.3352C>T
ENST00000681916.1:c.*874C>T	ENSP00000506477.1:n.*874C>T
ENST00000681930.1:n.3230C>T
ENST00000370834.9:c.1205C>T	ENSP00000359871.5:p.Ala402Val
ENST00000370841.8:c.1106C>T	ENSP00000359878.4:p.Ala369Val
ENST00000420607.6:c.1118C>T	ENSP00000409612.2:p.Ala373Val
ENST00000481374.1:n.379C>T
ENST00000525808.5:c.*692C>T	ENSP00000434823.1:n.*692C>T
ENST00000526129.5:c.*890C>T	ENSP00000434092.1:n.*890C>T
ENST00000526196.5:c.*874C>T	ENSP00000431953.1:n.*874C>T
ENST00000528016.1:c.160-7895C>T	ENSP00000434284.1:n.160-7895C>T
ENST00000529059.5:n.1015C>T
ENST00000541113.5:c.998C>T	ENSP00000442324.1:p.Ala333Val
NM_000016.5:c.1106C>T	NP_000007.1:p.Ala369Val
NM_001127328.2:c.1118C>T	NP_001120800.1:p.Ala373Val
NM_001286042.1:c.998C>T	NP_001272971.1:p.Ala333Val
NM_001286043.1:c.1205C>T	NP_001272972.1:p.Ala402Val
NM_001286044.1:c.539C>T	NP_001272973.1:p.Ala180Val
NM_000016.6:c.1106C>T MANE Select	NP_000007.1:p.Ala369Val
NM_001127328.3:c.1118C>T	NP_001120800.1:p.Ala373Val
NM_001286042.2:c.998C>T	NP_001272971.1:p.Ala333Val
NM_001286043.2:c.1205C>T	NP_001272972.1:p.Ala402Val
NM_001286044.2:c.539C>T	NP_001272973.1:p.Ala180Val