Canonical Allele Identifier: CA340818097

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226927A>T (hg19) ; chr1:g.75761242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761242A>T , CM000663.2:g.75761242A>T	GRCh38
NC_000001.10:g.76226927A>T , CM000663.1:g.76226927A>T	GRCh37
NC_000001.9:g.75999515A>T	NCBI36
NG_007045.2:g.41885A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1066A>T MANE Select	ENSP00000359878.5:p.Ile356Phe
ENST00000473018.3:n.3190A>T
ENST00000532207.6:n.2077A>T
ENST00000541113.6:c.970A>T	ENSP00000442324.2:p.Ile324Phe
ENST00000679509.1:n.2028A>T
ENST00000679530.1:c.*834A>T	ENSP00000506454.1:n.*834A>T
ENST00000679615.1:n.3081A>T
ENST00000679687.1:c.628A>T	ENSP00000506598.1:p.Ile210Phe
ENST00000679704.1:c.*832A>T	ENSP00000505117.1:n.*832A>T
ENST00000679709.1:c.*1029A>T	ENSP00000506623.1:n.*1029A>T
ENST00000679976.1:c.*650A>T	ENSP00000505565.1:n.*650A>T
ENST00000680166.1:n.4355A>T
ENST00000680315.1:n.949A>T
ENST00000680517.1:c.*454A>T	ENSP00000505803.1:n.*454A>T
ENST00000680582.1:n.2028A>T
ENST00000680613.1:c.*559A>T	ENSP00000506114.1:n.*559A>T
ENST00000680662.1:c.*980A>T	ENSP00000505080.1:n.*980A>T
ENST00000680691.1:c.*729A>T	ENSP00000506487.1:n.*729A>T
ENST00000680694.1:c.*654A>T	ENSP00000505658.1:n.*654A>T
ENST00000680743.1:c.*855A>T	ENSP00000505073.1:n.*855A>T
ENST00000680749.1:c.*351A>T	ENSP00000505122.1:n.*351A>T
ENST00000680798.1:c.*541A>T	ENSP00000505670.1:n.*541A>T
ENST00000680805.1:c.925A>T	ENSP00000505447.1:p.Ile309Phe
ENST00000680844.1:c.*850A>T	ENSP00000506541.1:n.*850A>T
ENST00000680948.1:c.*933A>T	ENSP00000505441.1:n.*933A>T
ENST00000680964.1:c.*159A>T	ENSP00000505961.1:n.*159A>T
ENST00000681037.1:c.*2550A>T	ENSP00000506025.1:n.*2550A>T
ENST00000681063.1:c.*335A>T	ENSP00000506616.1:n.*335A>T
ENST00000681209.1:c.*721A>T	ENSP00000505877.1:n.*721A>T
ENST00000681278.1:n.1768A>T
ENST00000681289.1:n.5061A>T
ENST00000681361.1:c.*733A>T	ENSP00000506679.1:n.*733A>T
ENST00000681430.1:c.*159A>T	ENSP00000506301.1:n.*159A>T
ENST00000681446.1:c.*770A>T	ENSP00000506244.1:n.*770A>T
ENST00000681450.1:c.*737A>T	ENSP00000505660.1:n.*737A>T
ENST00000681548.1:c.*652A>T	ENSP00000505275.1:n.*652A>T
ENST00000681616.1:c.*725A>T	ENSP00000505111.1:n.*725A>T
ENST00000681621.1:c.*650A>T	ENSP00000505770.1:n.*650A>T
ENST00000681680.1:n.3161A>T
ENST00000681720.1:c.*521A>T	ENSP00000505438.1:n.*521A>T
ENST00000681730.1:n.1288A>T
ENST00000681790.1:c.808A>T	ENSP00000505130.1:p.Ile270Phe
ENST00000681837.1:n.1682A>T
ENST00000681913.1:n.3312A>T
ENST00000681916.1:c.*834A>T	ENSP00000506477.1:n.*834A>T
ENST00000681930.1:n.3190A>T
ENST00000370834.9:c.1165A>T	ENSP00000359871.5:p.Ile389Phe
ENST00000370841.8:c.1066A>T	ENSP00000359878.4:p.Ile356Phe
ENST00000420607.6:c.1078A>T	ENSP00000409612.2:p.Ile360Phe
ENST00000481374.1:n.339A>T
ENST00000525808.5:c.*652A>T	ENSP00000434823.1:n.*652A>T
ENST00000526129.5:c.*850A>T	ENSP00000434092.1:n.*850A>T
ENST00000526196.5:c.*834A>T	ENSP00000431953.1:n.*834A>T
ENST00000528016.1:c.160-7935A>T	ENSP00000434284.1:n.160-7935A>T
ENST00000529059.5:n.975A>T
ENST00000534334.5:c.*807A>T	ENSP00000435584.1:n.*807A>T
ENST00000541113.5:c.958A>T	ENSP00000442324.1:p.Ile320Phe
NM_000016.5:c.1066A>T	NP_000007.1:p.Ile356Phe
NM_001127328.2:c.1078A>T	NP_001120800.1:p.Ile360Phe
NM_001286042.1:c.958A>T	NP_001272971.1:p.Ile320Phe
NM_001286043.1:c.1165A>T	NP_001272972.1:p.Ile389Phe
NM_001286044.1:c.499A>T	NP_001272973.1:p.Ile167Phe
NM_000016.6:c.1066A>T MANE Select	NP_000007.1:p.Ile356Phe
NM_001127328.3:c.1078A>T	NP_001120800.1:p.Ile360Phe
NM_001286042.2:c.958A>T	NP_001272971.1:p.Ile320Phe
NM_001286043.2:c.1165A>T	NP_001272972.1:p.Ile389Phe
NM_001286044.2:c.499A>T	NP_001272973.1:p.Ile167Phe