Canonical Allele Identifier: CA340817151

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216206A>T (hg19) ; chr1:g.75750521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750521A>T , CM000663.2:g.75750521A>T	GRCh38
NC_000001.10:g.76216206A>T , CM000663.1:g.76216206A>T	GRCh37
NC_000001.9:g.75988794A>T	NCBI36
NG_007045.2:g.31164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.920A>T MANE Select	ENSP00000359878.5:p.Lys307Ile
ENST00000473018.3:n.3044A>T
ENST00000532207.6:n.1809A>T
ENST00000541113.6:c.849+962A>T	ENSP00000442324.2:n.849+962A>T
ENST00000679509.1:n.1882A>T
ENST00000679530.1:c.*688A>T	ENSP00000506454.1:n.*688A>T
ENST00000679615.1:n.2935A>T
ENST00000679687.1:c.482A>T	ENSP00000506598.1:p.Lys161Ile
ENST00000679704.1:c.*686A>T	ENSP00000505117.1:n.*686A>T
ENST00000679709.1:c.*883A>T	ENSP00000506623.1:n.*883A>T
ENST00000679976.1:c.*504A>T	ENSP00000505565.1:n.*504A>T
ENST00000680166.1:n.4209A>T
ENST00000680315.1:n.803A>T
ENST00000680517.1:c.*308A>T	ENSP00000505803.1:n.*308A>T
ENST00000680582.1:n.1882A>T
ENST00000680613.1:c.*291A>T	ENSP00000506114.1:n.*291A>T
ENST00000680662.1:c.*834A>T	ENSP00000505080.1:n.*834A>T
ENST00000680691.1:c.*583A>T	ENSP00000506487.1:n.*583A>T
ENST00000680694.1:c.*508A>T	ENSP00000505658.1:n.*508A>T
ENST00000680743.1:c.*587A>T	ENSP00000505073.1:n.*587A>T
ENST00000680749.1:c.*205A>T	ENSP00000505122.1:n.*205A>T
ENST00000680798.1:c.*395A>T	ENSP00000505670.1:n.*395A>T
ENST00000680805.1:c.779A>T	ENSP00000505447.1:p.Lys260Ile
ENST00000680844.1:c.*704A>T	ENSP00000506541.1:n.*704A>T
ENST00000680948.1:c.*787A>T	ENSP00000505441.1:n.*787A>T
ENST00000680964.1:c.920A>T	ENSP00000505961.1:p.Lys307Ile
ENST00000681037.1:c.*2404A>T	ENSP00000506025.1:n.*2404A>T
ENST00000681063.1:c.*67A>T	ENSP00000506616.1:n.*67A>T
ENST00000681209.1:c.*575A>T	ENSP00000505877.1:n.*575A>T
ENST00000681278.1:n.1277A>T
ENST00000681289.1:n.4915A>T
ENST00000681361.1:c.*587A>T	ENSP00000506679.1:n.*587A>T
ENST00000681430.1:c.920A>T	ENSP00000506301.1:p.Lys307Ile
ENST00000681446.1:c.*502A>T	ENSP00000506244.1:n.*502A>T
ENST00000681450.1:c.*591A>T	ENSP00000505660.1:n.*591A>T
ENST00000681548.1:c.*506A>T	ENSP00000505275.1:n.*506A>T
ENST00000681616.1:c.*579A>T	ENSP00000505111.1:n.*579A>T
ENST00000681621.1:c.*504A>T	ENSP00000505770.1:n.*504A>T
ENST00000681680.1:n.3015A>T
ENST00000681720.1:c.*375A>T	ENSP00000505438.1:n.*375A>T
ENST00000681730.1:n.1142A>T
ENST00000681790.1:c.662A>T	ENSP00000505130.1:p.Lys221Ile
ENST00000681837.1:n.1536A>T
ENST00000681913.1:n.3044A>T
ENST00000681916.1:c.*688A>T	ENSP00000506477.1:n.*688A>T
ENST00000681930.1:n.3044A>T
ENST00000370834.9:c.1019A>T	ENSP00000359871.5:p.Lys340Ile
ENST00000370841.8:c.920A>T	ENSP00000359878.4:p.Lys307Ile
ENST00000420607.6:c.932A>T	ENSP00000409612.2:p.Lys311Ile
ENST00000481374.1:n.71A>T
ENST00000525808.5:c.*506A>T	ENSP00000434823.1:n.*506A>T
ENST00000526129.5:c.*704A>T	ENSP00000434092.1:n.*704A>T
ENST00000526196.5:c.*688A>T	ENSP00000431953.1:n.*688A>T
ENST00000528016.1:c.134A>T	ENSP00000434284.1:p.Lys45Ile
ENST00000529059.5:n.829A>T
ENST00000532207.5:n.650A>T
ENST00000534334.5:c.*504A>T	ENSP00000435584.1:n.*504A>T
ENST00000541113.5:c.812A>T	ENSP00000442324.1:p.Lys271Ile
NM_000016.5:c.920A>T	NP_000007.1:p.Lys307Ile
NM_001127328.2:c.932A>T	NP_001120800.1:p.Lys311Ile
NM_001286042.1:c.812A>T	NP_001272971.1:p.Lys271Ile
NM_001286043.1:c.1019A>T	NP_001272972.1:p.Lys340Ile
NM_001286044.1:c.353A>T	NP_001272973.1:p.Lys118Ile
NM_000016.6:c.920A>T MANE Select	NP_000007.1:p.Lys307Ile
NM_001127328.3:c.932A>T	NP_001120800.1:p.Lys311Ile
NM_001286042.2:c.812A>T	NP_001272971.1:p.Lys271Ile
NM_001286043.2:c.1019A>T	NP_001272972.1:p.Lys340Ile
NM_001286044.2:c.353A>T	NP_001272973.1:p.Lys118Ile