Canonical Allele Identifier: CA418545000

Gene: ACADM

Linked Data

• gnomAD v4: 1-75750459-T-A
• MyVariant Identifiers: chr1:g.76216144T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750459T>A , CM000663.2:g.75750459T>A	GRCh38
NC_000001.10:g.76216144T>A , CM000663.1:g.76216144T>A	GRCh37
NC_000001.9:g.75988732T>A	NCBI36
NG_007045.2:g.31102T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.858T>A MANE Select	ENSP00000359878.5:p.Ala286=
ENST00000473018.3:n.2982T>A
ENST00000532207.6:n.1747T>A
ENST00000541113.6:c.849+900T>A	ENSP00000442324.2:n.849+900T>A
ENST00000679509.1:n.1820T>A
ENST00000679530.1:c.*626T>A	ENSP00000506454.1:n.*626T>A
ENST00000679615.1:n.2873T>A
ENST00000679687.1:c.420T>A	ENSP00000506598.1:p.Ala140=
ENST00000679704.1:c.*624T>A	ENSP00000505117.1:n.*624T>A
ENST00000679709.1:c.*821T>A	ENSP00000506623.1:n.*821T>A
ENST00000679976.1:c.*442T>A	ENSP00000505565.1:n.*442T>A
ENST00000680166.1:n.4147T>A
ENST00000680315.1:n.741T>A
ENST00000680517.1:c.*246T>A	ENSP00000505803.1:n.*246T>A
ENST00000680582.1:n.1820T>A
ENST00000680613.1:c.*229T>A	ENSP00000506114.1:n.*229T>A
ENST00000680662.1:c.*772T>A	ENSP00000505080.1:n.*772T>A
ENST00000680691.1:c.*521T>A	ENSP00000506487.1:n.*521T>A
ENST00000680694.1:c.*446T>A	ENSP00000505658.1:n.*446T>A
ENST00000680743.1:c.*525T>A	ENSP00000505073.1:n.*525T>A
ENST00000680749.1:c.*143T>A	ENSP00000505122.1:n.*143T>A
ENST00000680798.1:c.*333T>A	ENSP00000505670.1:n.*333T>A
ENST00000680805.1:c.717T>A	ENSP00000505447.1:p.Ala239=
ENST00000680844.1:c.*642T>A	ENSP00000506541.1:n.*642T>A
ENST00000680948.1:c.*725T>A	ENSP00000505441.1:n.*725T>A
ENST00000680964.1:c.858T>A	ENSP00000505961.1:p.Ala286=
ENST00000681037.1:c.*2342T>A	ENSP00000506025.1:n.*2342T>A
ENST00000681063.1:c.*5T>A	ENSP00000506616.1:n.*5T>A
ENST00000681209.1:c.*513T>A	ENSP00000505877.1:n.*513T>A
ENST00000681278.1:n.1215T>A
ENST00000681289.1:n.4853T>A
ENST00000681361.1:c.*525T>A	ENSP00000506679.1:n.*525T>A
ENST00000681430.1:c.858T>A	ENSP00000506301.1:p.Ala286=
ENST00000681446.1:c.*440T>A	ENSP00000506244.1:n.*440T>A
ENST00000681450.1:c.*529T>A	ENSP00000505660.1:n.*529T>A
ENST00000681548.1:c.*444T>A	ENSP00000505275.1:n.*444T>A
ENST00000681616.1:c.*517T>A	ENSP00000505111.1:n.*517T>A
ENST00000681621.1:c.*442T>A	ENSP00000505770.1:n.*442T>A
ENST00000681680.1:n.2953T>A
ENST00000681720.1:c.*313T>A	ENSP00000505438.1:n.*313T>A
ENST00000681730.1:n.1080T>A
ENST00000681790.1:c.600T>A	ENSP00000505130.1:p.Ala200=
ENST00000681837.1:n.1474T>A
ENST00000681913.1:n.2982T>A
ENST00000681916.1:c.*626T>A	ENSP00000506477.1:n.*626T>A
ENST00000681930.1:n.2982T>A
ENST00000370834.9:c.957T>A	ENSP00000359871.5:p.Ala319=
ENST00000370841.8:c.858T>A	ENSP00000359878.4:p.Ala286=
ENST00000420607.6:c.870T>A	ENSP00000409612.2:p.Ala290=
ENST00000481374.1:n.9T>A
ENST00000525808.5:c.*444T>A	ENSP00000434823.1:n.*444T>A
ENST00000526129.5:c.*642T>A	ENSP00000434092.1:n.*642T>A
ENST00000526196.5:c.*626T>A	ENSP00000431953.1:n.*626T>A
ENST00000528016.1:c.72T>A	ENSP00000434284.1:p.Ala24=
ENST00000529059.5:n.767T>A
ENST00000532207.5:n.588T>A
ENST00000534334.5:c.*442T>A	ENSP00000435584.1:n.*442T>A
ENST00000541113.5:c.750T>A	ENSP00000442324.1:p.Ala250=
NM_000016.5:c.858T>A	NP_000007.1:p.Ala286=
NM_001127328.2:c.870T>A	NP_001120800.1:p.Ala290=
NM_001286042.1:c.750T>A	NP_001272971.1:p.Ala250=
NM_001286043.1:c.957T>A	NP_001272972.1:p.Ala319=
NM_001286044.1:c.291T>A	NP_001272973.1:p.Ala97=
NM_000016.6:c.858T>A MANE Select	NP_000007.1:p.Ala286=
NM_001127328.3:c.870T>A	NP_001120800.1:p.Ala290=
NM_001286042.2:c.750T>A	NP_001272971.1:p.Ala250=
NM_001286043.2:c.957T>A	NP_001272972.1:p.Ala319=
NM_001286044.2:c.291T>A	NP_001272973.1:p.Ala97=