Canonical Allele Identifier: CA340818040

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226898C>T (hg19) ; chr1:g.75761213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761213C>T , CM000663.2:g.75761213C>T	GRCh38
NC_000001.10:g.76226898C>T , CM000663.1:g.76226898C>T	GRCh37
NC_000001.9:g.75999486C>T	NCBI36
NG_007045.2:g.41856C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1037C>T MANE Select	ENSP00000359878.5:p.Ser346Phe
ENST00000473018.3:n.3161C>T
ENST00000532207.6:n.2048C>T
ENST00000541113.6:c.941C>T	ENSP00000442324.2:p.Ser314Phe
ENST00000679509.1:n.1999C>T
ENST00000679530.1:c.*805C>T	ENSP00000506454.1:n.*805C>T
ENST00000679615.1:n.3052C>T
ENST00000679687.1:c.599C>T	ENSP00000506598.1:p.Ser200Phe
ENST00000679704.1:c.*803C>T	ENSP00000505117.1:n.*803C>T
ENST00000679709.1:c.*1000C>T	ENSP00000506623.1:n.*1000C>T
ENST00000679976.1:c.*621C>T	ENSP00000505565.1:n.*621C>T
ENST00000680166.1:n.4326C>T
ENST00000680315.1:n.920C>T
ENST00000680517.1:c.*425C>T	ENSP00000505803.1:n.*425C>T
ENST00000680582.1:n.1999C>T
ENST00000680613.1:c.*530C>T	ENSP00000506114.1:n.*530C>T
ENST00000680662.1:c.*951C>T	ENSP00000505080.1:n.*951C>T
ENST00000680691.1:c.*700C>T	ENSP00000506487.1:n.*700C>T
ENST00000680694.1:c.*625C>T	ENSP00000505658.1:n.*625C>T
ENST00000680743.1:c.*826C>T	ENSP00000505073.1:n.*826C>T
ENST00000680749.1:c.*322C>T	ENSP00000505122.1:n.*322C>T
ENST00000680798.1:c.*512C>T	ENSP00000505670.1:n.*512C>T
ENST00000680805.1:c.896C>T	ENSP00000505447.1:p.Ser299Phe
ENST00000680844.1:c.*821C>T	ENSP00000506541.1:n.*821C>T
ENST00000680948.1:c.*904C>T	ENSP00000505441.1:n.*904C>T
ENST00000680964.1:c.*130C>T	ENSP00000505961.1:n.*130C>T
ENST00000681037.1:c.*2521C>T	ENSP00000506025.1:n.*2521C>T
ENST00000681063.1:c.*306C>T	ENSP00000506616.1:n.*306C>T
ENST00000681209.1:c.*692C>T	ENSP00000505877.1:n.*692C>T
ENST00000681278.1:n.1739C>T
ENST00000681289.1:n.5032C>T
ENST00000681361.1:c.*704C>T	ENSP00000506679.1:n.*704C>T
ENST00000681430.1:c.*130C>T	ENSP00000506301.1:n.*130C>T
ENST00000681446.1:c.*741C>T	ENSP00000506244.1:n.*741C>T
ENST00000681450.1:c.*708C>T	ENSP00000505660.1:n.*708C>T
ENST00000681548.1:c.*623C>T	ENSP00000505275.1:n.*623C>T
ENST00000681616.1:c.*696C>T	ENSP00000505111.1:n.*696C>T
ENST00000681621.1:c.*621C>T	ENSP00000505770.1:n.*621C>T
ENST00000681680.1:n.3132C>T
ENST00000681720.1:c.*492C>T	ENSP00000505438.1:n.*492C>T
ENST00000681730.1:n.1259C>T
ENST00000681790.1:c.779C>T	ENSP00000505130.1:p.Ser260Phe
ENST00000681837.1:n.1653C>T
ENST00000681913.1:n.3283C>T
ENST00000681916.1:c.*805C>T	ENSP00000506477.1:n.*805C>T
ENST00000681930.1:n.3161C>T
ENST00000370834.9:c.1136C>T	ENSP00000359871.5:p.Ser379Phe
ENST00000370841.8:c.1037C>T	ENSP00000359878.4:p.Ser346Phe
ENST00000420607.6:c.1049C>T	ENSP00000409612.2:p.Ser350Phe
ENST00000481374.1:n.310C>T
ENST00000525808.5:c.*623C>T	ENSP00000434823.1:n.*623C>T
ENST00000526129.5:c.*821C>T	ENSP00000434092.1:n.*821C>T
ENST00000526196.5:c.*805C>T	ENSP00000431953.1:n.*805C>T
ENST00000528016.1:c.160-7964C>T	ENSP00000434284.1:n.160-7964C>T
ENST00000529059.5:n.946C>T
ENST00000534334.5:c.*778C>T	ENSP00000435584.1:n.*778C>T
ENST00000541113.5:c.929C>T	ENSP00000442324.1:p.Ser310Phe
NM_000016.5:c.1037C>T	NP_000007.1:p.Ser346Phe
NM_001127328.2:c.1049C>T	NP_001120800.1:p.Ser350Phe
NM_001286042.1:c.929C>T	NP_001272971.1:p.Ser310Phe
NM_001286043.1:c.1136C>T	NP_001272972.1:p.Ser379Phe
NM_001286044.1:c.470C>T	NP_001272973.1:p.Ser157Phe
NM_000016.6:c.1037C>T MANE Select	NP_000007.1:p.Ser346Phe
NM_001127328.3:c.1049C>T	NP_001120800.1:p.Ser350Phe
NM_001286042.2:c.929C>T	NP_001272971.1:p.Ser310Phe
NM_001286043.2:c.1136C>T	NP_001272972.1:p.Ser379Phe
NM_001286044.2:c.470C>T	NP_001272973.1:p.Ser157Phe