Canonical Allele Identifier: CA340816980

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216159A>C (hg19) ; chr1:g.75750474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750474A>C , CM000663.2:g.75750474A>C	GRCh38
NC_000001.10:g.76216159A>C , CM000663.1:g.76216159A>C	GRCh37
NC_000001.9:g.75988747A>C	NCBI36
NG_007045.2:g.31117A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.873A>C MANE Select	ENSP00000359878.5:p.Leu291Phe
ENST00000473018.3:n.2997A>C
ENST00000532207.6:n.1762A>C
ENST00000541113.6:c.849+915A>C	ENSP00000442324.2:n.849+915A>C
ENST00000679509.1:n.1835A>C
ENST00000679530.1:c.*641A>C	ENSP00000506454.1:n.*641A>C
ENST00000679615.1:n.2888A>C
ENST00000679687.1:c.435A>C	ENSP00000506598.1:p.Leu145Phe
ENST00000679704.1:c.*639A>C	ENSP00000505117.1:n.*639A>C
ENST00000679709.1:c.*836A>C	ENSP00000506623.1:n.*836A>C
ENST00000679976.1:c.*457A>C	ENSP00000505565.1:n.*457A>C
ENST00000680166.1:n.4162A>C
ENST00000680315.1:n.756A>C
ENST00000680517.1:c.*261A>C	ENSP00000505803.1:n.*261A>C
ENST00000680582.1:n.1835A>C
ENST00000680613.1:c.*244A>C	ENSP00000506114.1:n.*244A>C
ENST00000680662.1:c.*787A>C	ENSP00000505080.1:n.*787A>C
ENST00000680691.1:c.*536A>C	ENSP00000506487.1:n.*536A>C
ENST00000680694.1:c.*461A>C	ENSP00000505658.1:n.*461A>C
ENST00000680743.1:c.*540A>C	ENSP00000505073.1:n.*540A>C
ENST00000680749.1:c.*158A>C	ENSP00000505122.1:n.*158A>C
ENST00000680798.1:c.*348A>C	ENSP00000505670.1:n.*348A>C
ENST00000680805.1:c.732A>C	ENSP00000505447.1:p.Leu244Phe
ENST00000680844.1:c.*657A>C	ENSP00000506541.1:n.*657A>C
ENST00000680948.1:c.*740A>C	ENSP00000505441.1:n.*740A>C
ENST00000680964.1:c.873A>C	ENSP00000505961.1:p.Leu291Phe
ENST00000681037.1:c.*2357A>C	ENSP00000506025.1:n.*2357A>C
ENST00000681063.1:c.*20A>C	ENSP00000506616.1:n.*20A>C
ENST00000681209.1:c.*528A>C	ENSP00000505877.1:n.*528A>C
ENST00000681278.1:n.1230A>C
ENST00000681289.1:n.4868A>C
ENST00000681361.1:c.*540A>C	ENSP00000506679.1:n.*540A>C
ENST00000681430.1:c.873A>C	ENSP00000506301.1:p.Leu291Phe
ENST00000681446.1:c.*455A>C	ENSP00000506244.1:n.*455A>C
ENST00000681450.1:c.*544A>C	ENSP00000505660.1:n.*544A>C
ENST00000681548.1:c.*459A>C	ENSP00000505275.1:n.*459A>C
ENST00000681616.1:c.*532A>C	ENSP00000505111.1:n.*532A>C
ENST00000681621.1:c.*457A>C	ENSP00000505770.1:n.*457A>C
ENST00000681680.1:n.2968A>C
ENST00000681720.1:c.*328A>C	ENSP00000505438.1:n.*328A>C
ENST00000681730.1:n.1095A>C
ENST00000681790.1:c.615A>C	ENSP00000505130.1:p.Leu205Phe
ENST00000681837.1:n.1489A>C
ENST00000681913.1:n.2997A>C
ENST00000681916.1:c.*641A>C	ENSP00000506477.1:n.*641A>C
ENST00000681930.1:n.2997A>C
ENST00000370834.9:c.972A>C	ENSP00000359871.5:p.Leu324Phe
ENST00000370841.8:c.873A>C	ENSP00000359878.4:p.Leu291Phe
ENST00000420607.6:c.885A>C	ENSP00000409612.2:p.Leu295Phe
ENST00000481374.1:n.24A>C
ENST00000525808.5:c.*459A>C	ENSP00000434823.1:n.*459A>C
ENST00000526129.5:c.*657A>C	ENSP00000434092.1:n.*657A>C
ENST00000526196.5:c.*641A>C	ENSP00000431953.1:n.*641A>C
ENST00000528016.1:c.87A>C	ENSP00000434284.1:p.Leu29Phe
ENST00000529059.5:n.782A>C
ENST00000532207.5:n.603A>C
ENST00000534334.5:c.*457A>C	ENSP00000435584.1:n.*457A>C
ENST00000541113.5:c.765A>C	ENSP00000442324.1:p.Leu255Phe
NM_000016.5:c.873A>C	NP_000007.1:p.Leu291Phe
NM_001127328.2:c.885A>C	NP_001120800.1:p.Leu295Phe
NM_001286042.1:c.765A>C	NP_001272971.1:p.Leu255Phe
NM_001286043.1:c.972A>C	NP_001272972.1:p.Leu324Phe
NM_001286044.1:c.306A>C	NP_001272973.1:p.Leu102Phe
NM_000016.6:c.873A>C MANE Select	NP_000007.1:p.Leu291Phe
NM_001127328.3:c.885A>C	NP_001120800.1:p.Leu295Phe
NM_001286042.2:c.765A>C	NP_001272971.1:p.Leu255Phe
NM_001286043.2:c.972A>C	NP_001272972.1:p.Leu324Phe
NM_001286044.2:c.306A>C	NP_001272973.1:p.Leu102Phe