Canonical Allele Identifier: CA418544798

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1118872
• ClinVar RCV Id: RCV001448131
• dbSNP Id: rs1451872855
• gnomAD v3: 1-75749445-A-T
• gnomAD v4: 1-75749445-A-T
• MyVariant Identifiers: chr1:g.76215130A>T (hg19) ; chr1:g.75749445A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749445A>T , CM000663.2:g.75749445A>T	GRCh38
NC_000001.10:g.76215130A>T , CM000663.1:g.76215130A>T	GRCh37
NC_000001.9:g.75987718A>T	NCBI36
NG_007045.2:g.30088A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.735A>T MANE Select	ENSP00000359878.5:p.Ser245=
ENST00000473018.3:n.2859A>T
ENST00000532207.6:n.1624A>T
ENST00000541113.6:c.735A>T	ENSP00000442324.2:p.Ser245=
ENST00000679509.1:n.1697A>T
ENST00000679530.1:c.*503A>T	ENSP00000506454.1:n.*503A>T
ENST00000679615.1:n.2750A>T
ENST00000679687.1:c.297A>T	ENSP00000506598.1:p.Ser99=
ENST00000679704.1:c.*501A>T	ENSP00000505117.1:n.*501A>T
ENST00000679709.1:c.*698A>T	ENSP00000506623.1:n.*698A>T
ENST00000679976.1:c.*319A>T	ENSP00000505565.1:n.*319A>T
ENST00000680166.1:n.4024A>T
ENST00000680517.1:c.*123A>T	ENSP00000505803.1:n.*123A>T
ENST00000680582.1:n.1697A>T
ENST00000680613.1:c.*106A>T	ENSP00000506114.1:n.*106A>T
ENST00000680662.1:c.*649A>T	ENSP00000505080.1:n.*649A>T
ENST00000680691.1:c.*398A>T	ENSP00000506487.1:n.*398A>T
ENST00000680694.1:c.*323A>T	ENSP00000505658.1:n.*323A>T
ENST00000680743.1:c.*402A>T	ENSP00000505073.1:n.*402A>T
ENST00000680749.1:c.*20A>T	ENSP00000505122.1:n.*20A>T
ENST00000680798.1:c.*210A>T	ENSP00000505670.1:n.*210A>T
ENST00000680805.1:c.709-1006A>T	ENSP00000505447.1:n.709-1006A>T
ENST00000680844.1:c.*519A>T	ENSP00000506541.1:n.*519A>T
ENST00000680948.1:c.*602A>T	ENSP00000505441.1:n.*602A>T
ENST00000680964.1:c.735A>T	ENSP00000505961.1:p.Ser245=
ENST00000681037.1:c.*2219A>T	ENSP00000506025.1:n.*2219A>T
ENST00000681063.1:c.600-1006A>T	ENSP00000506616.1:n.600-1006A>T
ENST00000681209.1:c.*390A>T	ENSP00000505877.1:n.*390A>T
ENST00000681278.1:n.1092A>T
ENST00000681289.1:n.4730A>T
ENST00000681361.1:c.*402A>T	ENSP00000506679.1:n.*402A>T
ENST00000681430.1:c.735A>T	ENSP00000506301.1:p.Ser245=
ENST00000681446.1:c.*317A>T	ENSP00000506244.1:n.*317A>T
ENST00000681450.1:c.*406A>T	ENSP00000505660.1:n.*406A>T
ENST00000681548.1:c.*321A>T	ENSP00000505275.1:n.*321A>T
ENST00000681616.1:c.*394A>T	ENSP00000505111.1:n.*394A>T
ENST00000681621.1:c.*319A>T	ENSP00000505770.1:n.*319A>T
ENST00000681680.1:n.2830A>T
ENST00000681720.1:c.*190A>T	ENSP00000505438.1:n.*190A>T
ENST00000681730.1:n.957A>T
ENST00000681790.1:c.477A>T	ENSP00000505130.1:p.Ser159=
ENST00000681837.1:n.1351A>T
ENST00000681913.1:n.2859A>T
ENST00000681916.1:c.*503A>T	ENSP00000506477.1:n.*503A>T
ENST00000681930.1:n.2859A>T
ENST00000370834.9:c.834A>T	ENSP00000359871.5:p.Ser278=
ENST00000370841.8:c.735A>T	ENSP00000359878.4:p.Ser245=
ENST00000420607.6:c.747A>T	ENSP00000409612.2:p.Ser249=
ENST00000525808.5:c.*321A>T	ENSP00000434823.1:n.*321A>T
ENST00000526129.5:c.*519A>T	ENSP00000434092.1:n.*519A>T
ENST00000526196.5:c.*503A>T	ENSP00000431953.1:n.*503A>T
ENST00000526930.1:n.508A>T
ENST00000529059.5:n.644A>T
ENST00000530953.6:c.*232A>T	ENSP00000431372.1:n.*232A>T
ENST00000532207.5:n.465A>T
ENST00000532509.5:c.*499A>T	ENSP00000432522.1:n.*499A>T
ENST00000534334.5:c.*319A>T	ENSP00000435584.1:n.*319A>T
ENST00000541113.5:c.627A>T	ENSP00000442324.1:p.Ser209=
NM_000016.5:c.735A>T	NP_000007.1:p.Ser245=
NM_001127328.2:c.747A>T	NP_001120800.1:p.Ser249=
NM_001286042.1:c.627A>T	NP_001272971.1:p.Ser209=
NM_001286043.1:c.834A>T	NP_001272972.1:p.Ser278=
NM_001286044.1:c.168A>T	NP_001272973.1:p.Ser56=
NM_000016.6:c.735A>T MANE Select	NP_000007.1:p.Ser245=
NM_001127328.3:c.747A>T	NP_001120800.1:p.Ser249=
NM_001286042.2:c.627A>T	NP_001272971.1:p.Ser209=
NM_001286043.2:c.834A>T	NP_001272972.1:p.Ser278=
NM_001286044.2:c.168A>T	NP_001272973.1:p.Ser56=