Canonical Allele Identifier: CA340818282

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227015A>C (hg19) ; chr1:g.75761330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761330A>C , CM000663.2:g.75761330A>C	GRCh38
NC_000001.10:g.76227015A>C , CM000663.1:g.76227015A>C	GRCh37
NC_000001.9:g.75999603A>C	NCBI36
NG_007045.2:g.41973A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1154A>C MANE Select	ENSP00000359878.5:p.Tyr385Ser
ENST00000473018.3:n.3278A>C
ENST00000532207.6:n.2165A>C
ENST00000541113.6:c.1058A>C	ENSP00000442324.2:p.Tyr353Ser
ENST00000679509.1:n.2116A>C
ENST00000679530.1:c.*922A>C	ENSP00000506454.1:n.*922A>C
ENST00000679615.1:n.3169A>C
ENST00000679687.1:c.716A>C	ENSP00000506598.1:p.Tyr239Ser
ENST00000679704.1:c.*920A>C	ENSP00000505117.1:n.*920A>C
ENST00000679709.1:c.*1117A>C	ENSP00000506623.1:n.*1117A>C
ENST00000679976.1:c.*738A>C	ENSP00000505565.1:n.*738A>C
ENST00000680166.1:n.4443A>C
ENST00000680315.1:n.1037A>C
ENST00000680517.1:c.*542A>C	ENSP00000505803.1:n.*542A>C
ENST00000680582.1:n.2116A>C
ENST00000680613.1:c.*647A>C	ENSP00000506114.1:n.*647A>C
ENST00000680662.1:c.*1068A>C	ENSP00000505080.1:n.*1068A>C
ENST00000680691.1:c.*817A>C	ENSP00000506487.1:n.*817A>C
ENST00000680694.1:c.*742A>C	ENSP00000505658.1:n.*742A>C
ENST00000680743.1:c.*943A>C	ENSP00000505073.1:n.*943A>C
ENST00000680749.1:c.*439A>C	ENSP00000505122.1:n.*439A>C
ENST00000680798.1:c.*629A>C	ENSP00000505670.1:n.*629A>C
ENST00000680805.1:c.1013A>C	ENSP00000505447.1:p.Tyr338Ser
ENST00000680844.1:c.*938A>C	ENSP00000506541.1:n.*938A>C
ENST00000680948.1:c.*1021A>C	ENSP00000505441.1:n.*1021A>C
ENST00000680964.1:c.*247A>C	ENSP00000505961.1:n.*247A>C
ENST00000681037.1:c.*2638A>C	ENSP00000506025.1:n.*2638A>C
ENST00000681063.1:c.*423A>C	ENSP00000506616.1:n.*423A>C
ENST00000681209.1:c.*809A>C	ENSP00000505877.1:n.*809A>C
ENST00000681278.1:n.1856A>C
ENST00000681289.1:n.5149A>C
ENST00000681361.1:c.*821A>C	ENSP00000506679.1:n.*821A>C
ENST00000681430.1:c.*247A>C	ENSP00000506301.1:n.*247A>C
ENST00000681446.1:c.*858A>C	ENSP00000506244.1:n.*858A>C
ENST00000681450.1:c.*825A>C	ENSP00000505660.1:n.*825A>C
ENST00000681548.1:c.*740A>C	ENSP00000505275.1:n.*740A>C
ENST00000681616.1:c.*813A>C	ENSP00000505111.1:n.*813A>C
ENST00000681621.1:c.*738A>C	ENSP00000505770.1:n.*738A>C
ENST00000681680.1:n.3249A>C
ENST00000681720.1:c.*609A>C	ENSP00000505438.1:n.*609A>C
ENST00000681730.1:n.1376A>C
ENST00000681790.1:c.896A>C	ENSP00000505130.1:p.Tyr299Ser
ENST00000681837.1:n.1770A>C
ENST00000681913.1:n.3400A>C
ENST00000681916.1:c.*922A>C	ENSP00000506477.1:n.*922A>C
ENST00000681930.1:n.3278A>C
ENST00000370834.9:c.1253A>C	ENSP00000359871.5:p.Tyr418Ser
ENST00000370841.8:c.1154A>C	ENSP00000359878.4:p.Tyr385Ser
ENST00000420607.6:c.1166A>C	ENSP00000409612.2:p.Tyr389Ser
ENST00000481374.1:n.427A>C
ENST00000525808.5:c.*740A>C	ENSP00000434823.1:n.*740A>C
ENST00000526129.5:c.*938A>C	ENSP00000434092.1:n.*938A>C
ENST00000526196.5:c.*922A>C	ENSP00000431953.1:n.*922A>C
ENST00000528016.1:c.160-7847A>C	ENSP00000434284.1:n.160-7847A>C
ENST00000529059.5:n.1063A>C
ENST00000541113.5:c.1046A>C	ENSP00000442324.1:p.Tyr349Ser
NM_000016.5:c.1154A>C	NP_000007.1:p.Tyr385Ser
NM_001127328.2:c.1166A>C	NP_001120800.1:p.Tyr389Ser
NM_001286042.1:c.1046A>C	NP_001272971.1:p.Tyr349Ser
NM_001286043.1:c.1253A>C	NP_001272972.1:p.Tyr418Ser
NM_001286044.1:c.587A>C	NP_001272973.1:p.Tyr196Ser
NM_000016.6:c.1154A>C MANE Select	NP_000007.1:p.Tyr385Ser
NM_001127328.3:c.1166A>C	NP_001120800.1:p.Tyr389Ser
NM_001286042.2:c.1046A>C	NP_001272971.1:p.Tyr349Ser
NM_001286043.2:c.1253A>C	NP_001272972.1:p.Tyr418Ser
NM_001286044.2:c.587A>C	NP_001272973.1:p.Tyr196Ser