Canonical Allele Identifier: CA340817035

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216175G>T (hg19) ; chr1:g.75750490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750490G>T , CM000663.2:g.75750490G>T	GRCh38
NC_000001.10:g.76216175G>T , CM000663.1:g.76216175G>T	GRCh37
NC_000001.9:g.75988763G>T	NCBI36
NG_007045.2:g.31133G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.889G>T MANE Select	ENSP00000359878.5:p.Asp297Tyr
ENST00000473018.3:n.3013G>T
ENST00000532207.6:n.1778G>T
ENST00000541113.6:c.849+931G>T	ENSP00000442324.2:n.849+931G>T
ENST00000679509.1:n.1851G>T
ENST00000679530.1:c.*657G>T	ENSP00000506454.1:n.*657G>T
ENST00000679615.1:n.2904G>T
ENST00000679687.1:c.451G>T	ENSP00000506598.1:p.Asp151Tyr
ENST00000679704.1:c.*655G>T	ENSP00000505117.1:n.*655G>T
ENST00000679709.1:c.*852G>T	ENSP00000506623.1:n.*852G>T
ENST00000679976.1:c.*473G>T	ENSP00000505565.1:n.*473G>T
ENST00000680166.1:n.4178G>T
ENST00000680315.1:n.772G>T
ENST00000680517.1:c.*277G>T	ENSP00000505803.1:n.*277G>T
ENST00000680582.1:n.1851G>T
ENST00000680613.1:c.*260G>T	ENSP00000506114.1:n.*260G>T
ENST00000680662.1:c.*803G>T	ENSP00000505080.1:n.*803G>T
ENST00000680691.1:c.*552G>T	ENSP00000506487.1:n.*552G>T
ENST00000680694.1:c.*477G>T	ENSP00000505658.1:n.*477G>T
ENST00000680743.1:c.*556G>T	ENSP00000505073.1:n.*556G>T
ENST00000680749.1:c.*174G>T	ENSP00000505122.1:n.*174G>T
ENST00000680798.1:c.*364G>T	ENSP00000505670.1:n.*364G>T
ENST00000680805.1:c.748G>T	ENSP00000505447.1:p.Asp250Tyr
ENST00000680844.1:c.*673G>T	ENSP00000506541.1:n.*673G>T
ENST00000680948.1:c.*756G>T	ENSP00000505441.1:n.*756G>T
ENST00000680964.1:c.889G>T	ENSP00000505961.1:p.Asp297Tyr
ENST00000681037.1:c.*2373G>T	ENSP00000506025.1:n.*2373G>T
ENST00000681063.1:c.*36G>T	ENSP00000506616.1:n.*36G>T
ENST00000681209.1:c.*544G>T	ENSP00000505877.1:n.*544G>T
ENST00000681278.1:n.1246G>T
ENST00000681289.1:n.4884G>T
ENST00000681361.1:c.*556G>T	ENSP00000506679.1:n.*556G>T
ENST00000681430.1:c.889G>T	ENSP00000506301.1:p.Asp297Tyr
ENST00000681446.1:c.*471G>T	ENSP00000506244.1:n.*471G>T
ENST00000681450.1:c.*560G>T	ENSP00000505660.1:n.*560G>T
ENST00000681548.1:c.*475G>T	ENSP00000505275.1:n.*475G>T
ENST00000681616.1:c.*548G>T	ENSP00000505111.1:n.*548G>T
ENST00000681621.1:c.*473G>T	ENSP00000505770.1:n.*473G>T
ENST00000681680.1:n.2984G>T
ENST00000681720.1:c.*344G>T	ENSP00000505438.1:n.*344G>T
ENST00000681730.1:n.1111G>T
ENST00000681790.1:c.631G>T	ENSP00000505130.1:p.Asp211Tyr
ENST00000681837.1:n.1505G>T
ENST00000681913.1:n.3013G>T
ENST00000681916.1:c.*657G>T	ENSP00000506477.1:n.*657G>T
ENST00000681930.1:n.3013G>T
ENST00000370834.9:c.988G>T	ENSP00000359871.5:p.Asp330Tyr
ENST00000370841.8:c.889G>T	ENSP00000359878.4:p.Asp297Tyr
ENST00000420607.6:c.901G>T	ENSP00000409612.2:p.Asp301Tyr
ENST00000481374.1:n.40G>T
ENST00000525808.5:c.*475G>T	ENSP00000434823.1:n.*475G>T
ENST00000526129.5:c.*673G>T	ENSP00000434092.1:n.*673G>T
ENST00000526196.5:c.*657G>T	ENSP00000431953.1:n.*657G>T
ENST00000528016.1:c.103G>T	ENSP00000434284.1:p.Asp35Tyr
ENST00000529059.5:n.798G>T
ENST00000532207.5:n.619G>T
ENST00000534334.5:c.*473G>T	ENSP00000435584.1:n.*473G>T
ENST00000541113.5:c.781G>T	ENSP00000442324.1:p.Asp261Tyr
NM_000016.5:c.889G>T	NP_000007.1:p.Asp297Tyr
NM_001127328.2:c.901G>T	NP_001120800.1:p.Asp301Tyr
NM_001286042.1:c.781G>T	NP_001272971.1:p.Asp261Tyr
NM_001286043.1:c.988G>T	NP_001272972.1:p.Asp330Tyr
NM_001286044.1:c.322G>T	NP_001272973.1:p.Asp108Tyr
NM_000016.6:c.889G>T MANE Select	NP_000007.1:p.Asp297Tyr
NM_001127328.3:c.901G>T	NP_001120800.1:p.Asp301Tyr
NM_001286042.2:c.781G>T	NP_001272971.1:p.Asp261Tyr
NM_001286043.2:c.988G>T	NP_001272972.1:p.Asp330Tyr
NM_001286044.2:c.322G>T	NP_001272973.1:p.Asp108Tyr