Canonical Allele Identifier: CA340815419

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205777A>T (hg19) ; chr1:g.75740092A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740092A>T , CM000663.2:g.75740092A>T	GRCh38
NC_000001.10:g.76205777A>T , CM000663.1:g.76205777A>T	GRCh37
NC_000001.9:g.75978365A>T	NCBI36
NG_007045.2:g.20735A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.581A>T MANE Select	ENSP00000359878.5:p.Asn194Ile
ENST00000473018.3:n.2705A>T
ENST00000541113.6:c.581A>T	ENSP00000442324.2:p.Asn194Ile
ENST00000679509.1:n.1543A>T
ENST00000679530.1:c.*349A>T	ENSP00000506454.1:n.*349A>T
ENST00000679615.1:n.2705A>T
ENST00000679687.1:c.143A>T	ENSP00000506598.1:p.Asn48Ile
ENST00000679704.1:c.*347A>T	ENSP00000505117.1:n.*347A>T
ENST00000679709.1:c.*544A>T	ENSP00000506623.1:n.*544A>T
ENST00000679804.1:n.320A>T
ENST00000679976.1:c.*165A>T	ENSP00000505565.1:n.*165A>T
ENST00000680166.1:n.3870A>T
ENST00000680517.1:c.*78A>T	ENSP00000505803.1:n.*78A>T
ENST00000680582.1:n.1543A>T
ENST00000680613.1:c.581A>T	ENSP00000506114.1:p.Asn194Ile
ENST00000680662.1:c.*495A>T	ENSP00000505080.1:n.*495A>T
ENST00000680691.1:c.*244A>T	ENSP00000506487.1:n.*244A>T
ENST00000680694.1:c.*169A>T	ENSP00000505658.1:n.*169A>T
ENST00000680743.1:c.*248A>T	ENSP00000505073.1:n.*248A>T
ENST00000680749.1:c.581A>T	ENSP00000505122.1:p.Asn194Ile
ENST00000680798.1:c.*165A>T	ENSP00000505670.1:n.*165A>T
ENST00000680805.1:c.581A>T	ENSP00000505447.1:p.Asn194Ile
ENST00000680844.1:c.*365A>T	ENSP00000506541.1:n.*365A>T
ENST00000680948.1:c.*448A>T	ENSP00000505441.1:n.*448A>T
ENST00000680964.1:c.581A>T	ENSP00000505961.1:p.Asn194Ile
ENST00000681037.1:c.581A>T	ENSP00000506025.1:p.Asn194Ile
ENST00000681063.1:c.581A>T	ENSP00000506616.1:p.Asn194Ile
ENST00000681209.1:c.*345A>T	ENSP00000505877.1:n.*345A>T
ENST00000681278.1:n.938A>T
ENST00000681289.1:n.938A>T
ENST00000681361.1:c.*248A>T	ENSP00000506679.1:n.*248A>T
ENST00000681430.1:c.581A>T	ENSP00000506301.1:p.Asn194Ile
ENST00000681446.1:c.*163A>T	ENSP00000506244.1:n.*163A>T
ENST00000681450.1:c.*252A>T	ENSP00000505660.1:n.*252A>T
ENST00000681548.1:c.*167A>T	ENSP00000505275.1:n.*167A>T
ENST00000681616.1:c.*349A>T	ENSP00000505111.1:n.*349A>T
ENST00000681621.1:c.*165A>T	ENSP00000505770.1:n.*165A>T
ENST00000681680.1:n.2705A>T
ENST00000681720.1:c.*55-5714A>T	ENSP00000505438.1:n.*55-5714A>T
ENST00000681730.1:n.803A>T
ENST00000681790.1:c.323A>T	ENSP00000505130.1:p.Asn108Ile
ENST00000681837.1:n.1197A>T
ENST00000681913.1:n.2705A>T
ENST00000681916.1:c.*349A>T	ENSP00000506477.1:n.*349A>T
ENST00000681930.1:n.2705A>T
ENST00000370834.9:c.680A>T	ENSP00000359871.5:p.Asn227Ile
ENST00000370841.8:c.581A>T	ENSP00000359878.4:p.Asn194Ile
ENST00000420607.6:c.593A>T	ENSP00000409612.2:p.Asn198Ile
ENST00000525808.5:c.*167A>T	ENSP00000434823.1:n.*167A>T
ENST00000526129.5:c.*365A>T	ENSP00000434092.1:n.*365A>T
ENST00000526196.5:c.*349A>T	ENSP00000431953.1:n.*349A>T
ENST00000526930.1:n.354A>T
ENST00000529059.5:n.490A>T
ENST00000530953.6:c.*78A>T	ENSP00000431372.1:n.*78A>T
ENST00000532509.5:c.*345A>T	ENSP00000432522.1:n.*345A>T
ENST00000534334.5:c.*165A>T	ENSP00000435584.1:n.*165A>T
ENST00000541113.5:c.473A>T	ENSP00000442324.1:p.Asn158Ile
NM_000016.5:c.581A>T	NP_000007.1:p.Asn194Ile
NM_001127328.2:c.593A>T	NP_001120800.1:p.Asn198Ile
NM_001286042.1:c.473A>T	NP_001272971.1:p.Asn158Ile
NM_001286043.1:c.680A>T	NP_001272972.1:p.Asn227Ile
NM_001286044.1:c.14A>T	NP_001272973.1:p.Asn5Ile
NM_000016.6:c.581A>T MANE Select	NP_000007.1:p.Asn194Ile
NM_001127328.3:c.593A>T	NP_001120800.1:p.Asn198Ile
NM_001286042.2:c.473A>T	NP_001272971.1:p.Asn158Ile
NM_001286043.2:c.680A>T	NP_001272972.1:p.Asn227Ile
NM_001286044.2:c.14A>T	NP_001272973.1:p.Asn5Ile