Canonical Allele Identifier: CA418707508

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1531917
• ClinVar RCV Id: RCV002084788
• dbSNP Id: rs2100452828
• MyVariant Identifiers: chr1:g.76226851T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761166T>A , CM000663.2:g.75761166T>A	GRCh38
NC_000001.10:g.76226851T>A , CM000663.1:g.76226851T>A	GRCh37
NC_000001.9:g.75999439T>A	NCBI36
NG_007045.2:g.41809T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.990T>A MANE Select	ENSP00000359878.5:p.Val330=
ENST00000473018.3:n.3114T>A
ENST00000532207.6:n.2001T>A
ENST00000541113.6:c.894T>A	ENSP00000442324.2:p.Val298=
ENST00000679509.1:n.1952T>A
ENST00000679530.1:c.*758T>A	ENSP00000506454.1:n.*758T>A
ENST00000679615.1:n.3005T>A
ENST00000679687.1:c.552T>A	ENSP00000506598.1:p.Val184=
ENST00000679704.1:c.*756T>A	ENSP00000505117.1:n.*756T>A
ENST00000679709.1:c.*953T>A	ENSP00000506623.1:n.*953T>A
ENST00000679976.1:c.*574T>A	ENSP00000505565.1:n.*574T>A
ENST00000680166.1:n.4279T>A
ENST00000680315.1:n.873T>A
ENST00000680517.1:c.*378T>A	ENSP00000505803.1:n.*378T>A
ENST00000680582.1:n.1952T>A
ENST00000680613.1:c.*483T>A	ENSP00000506114.1:n.*483T>A
ENST00000680662.1:c.*904T>A	ENSP00000505080.1:n.*904T>A
ENST00000680691.1:c.*653T>A	ENSP00000506487.1:n.*653T>A
ENST00000680694.1:c.*578T>A	ENSP00000505658.1:n.*578T>A
ENST00000680743.1:c.*779T>A	ENSP00000505073.1:n.*779T>A
ENST00000680749.1:c.*275T>A	ENSP00000505122.1:n.*275T>A
ENST00000680798.1:c.*465T>A	ENSP00000505670.1:n.*465T>A
ENST00000680805.1:c.849T>A	ENSP00000505447.1:p.Val283=
ENST00000680844.1:c.*774T>A	ENSP00000506541.1:n.*774T>A
ENST00000680948.1:c.*857T>A	ENSP00000505441.1:n.*857T>A
ENST00000680964.1:c.*83T>A	ENSP00000505961.1:n.*83T>A
ENST00000681037.1:c.*2474T>A	ENSP00000506025.1:n.*2474T>A
ENST00000681063.1:c.*259T>A	ENSP00000506616.1:n.*259T>A
ENST00000681209.1:c.*645T>A	ENSP00000505877.1:n.*645T>A
ENST00000681278.1:n.1692T>A
ENST00000681289.1:n.4985T>A
ENST00000681361.1:c.*657T>A	ENSP00000506679.1:n.*657T>A
ENST00000681430.1:c.*83T>A	ENSP00000506301.1:n.*83T>A
ENST00000681446.1:c.*694T>A	ENSP00000506244.1:n.*694T>A
ENST00000681450.1:c.*661T>A	ENSP00000505660.1:n.*661T>A
ENST00000681548.1:c.*576T>A	ENSP00000505275.1:n.*576T>A
ENST00000681616.1:c.*649T>A	ENSP00000505111.1:n.*649T>A
ENST00000681621.1:c.*574T>A	ENSP00000505770.1:n.*574T>A
ENST00000681680.1:n.3085T>A
ENST00000681720.1:c.*445T>A	ENSP00000505438.1:n.*445T>A
ENST00000681730.1:n.1212T>A
ENST00000681790.1:c.732T>A	ENSP00000505130.1:p.Val244=
ENST00000681837.1:n.1606T>A
ENST00000681913.1:n.3236T>A
ENST00000681916.1:c.*758T>A	ENSP00000506477.1:n.*758T>A
ENST00000681930.1:n.3114T>A
ENST00000370834.9:c.1089T>A	ENSP00000359871.5:p.Val363=
ENST00000370841.8:c.990T>A	ENSP00000359878.4:p.Val330=
ENST00000420607.6:c.1002T>A	ENSP00000409612.2:p.Val334=
ENST00000481374.1:n.263T>A
ENST00000525808.5:c.*576T>A	ENSP00000434823.1:n.*576T>A
ENST00000526129.5:c.*774T>A	ENSP00000434092.1:n.*774T>A
ENST00000526196.5:c.*758T>A	ENSP00000431953.1:n.*758T>A
ENST00000528016.1:c.160-8011T>A	ENSP00000434284.1:n.160-8011T>A
ENST00000529059.5:n.899T>A
ENST00000532207.5:n.720T>A
ENST00000534334.5:c.*731T>A	ENSP00000435584.1:n.*731T>A
ENST00000541113.5:c.882T>A	ENSP00000442324.1:p.Val294=
NM_000016.5:c.990T>A	NP_000007.1:p.Val330=
NM_001127328.2:c.1002T>A	NP_001120800.1:p.Val334=
NM_001286042.1:c.882T>A	NP_001272971.1:p.Val294=
NM_001286043.1:c.1089T>A	NP_001272972.1:p.Val363=
NM_001286044.1:c.423T>A	NP_001272973.1:p.Val141=
NM_000016.6:c.990T>A MANE Select	NP_000007.1:p.Val330=
NM_001127328.3:c.1002T>A	NP_001120800.1:p.Val334=
NM_001286042.2:c.882T>A	NP_001272971.1:p.Val294=
NM_001286043.2:c.1089T>A	NP_001272972.1:p.Val363=
NM_001286044.2:c.423T>A	NP_001272973.1:p.Val141=