Canonical Allele Identifier: CA418707692

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1530665
• ClinVar RCV Id: RCV002089832
• dbSNP Id: rs2100453483
• gnomAD v4: 1-75761277-G-A
• MyVariant Identifiers: chr1:g.76226962G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761277G>A , CM000663.2:g.75761277G>A	GRCh38
NC_000001.10:g.76226962G>A , CM000663.1:g.76226962G>A	GRCh37
NC_000001.9:g.75999550G>A	NCBI36
NG_007045.2:g.41920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1101G>A MANE Select	ENSP00000359878.5:p.Gln367=
ENST00000473018.3:n.3225G>A
ENST00000532207.6:n.2112G>A
ENST00000541113.6:c.1005G>A	ENSP00000442324.2:p.Gln335=
ENST00000679509.1:n.2063G>A
ENST00000679530.1:c.*869G>A	ENSP00000506454.1:n.*869G>A
ENST00000679615.1:n.3116G>A
ENST00000679687.1:c.663G>A	ENSP00000506598.1:p.Gln221=
ENST00000679704.1:c.*867G>A	ENSP00000505117.1:n.*867G>A
ENST00000679709.1:c.*1064G>A	ENSP00000506623.1:n.*1064G>A
ENST00000679976.1:c.*685G>A	ENSP00000505565.1:n.*685G>A
ENST00000680166.1:n.4390G>A
ENST00000680315.1:n.984G>A
ENST00000680517.1:c.*489G>A	ENSP00000505803.1:n.*489G>A
ENST00000680582.1:n.2063G>A
ENST00000680613.1:c.*594G>A	ENSP00000506114.1:n.*594G>A
ENST00000680662.1:c.*1015G>A	ENSP00000505080.1:n.*1015G>A
ENST00000680691.1:c.*764G>A	ENSP00000506487.1:n.*764G>A
ENST00000680694.1:c.*689G>A	ENSP00000505658.1:n.*689G>A
ENST00000680743.1:c.*890G>A	ENSP00000505073.1:n.*890G>A
ENST00000680749.1:c.*386G>A	ENSP00000505122.1:n.*386G>A
ENST00000680798.1:c.*576G>A	ENSP00000505670.1:n.*576G>A
ENST00000680805.1:c.960G>A	ENSP00000505447.1:p.Gln320=
ENST00000680844.1:c.*885G>A	ENSP00000506541.1:n.*885G>A
ENST00000680948.1:c.*968G>A	ENSP00000505441.1:n.*968G>A
ENST00000680964.1:c.*194G>A	ENSP00000505961.1:n.*194G>A
ENST00000681037.1:c.*2585G>A	ENSP00000506025.1:n.*2585G>A
ENST00000681063.1:c.*370G>A	ENSP00000506616.1:n.*370G>A
ENST00000681209.1:c.*756G>A	ENSP00000505877.1:n.*756G>A
ENST00000681278.1:n.1803G>A
ENST00000681289.1:n.5096G>A
ENST00000681361.1:c.*768G>A	ENSP00000506679.1:n.*768G>A
ENST00000681430.1:c.*194G>A	ENSP00000506301.1:n.*194G>A
ENST00000681446.1:c.*805G>A	ENSP00000506244.1:n.*805G>A
ENST00000681450.1:c.*772G>A	ENSP00000505660.1:n.*772G>A
ENST00000681548.1:c.*687G>A	ENSP00000505275.1:n.*687G>A
ENST00000681616.1:c.*760G>A	ENSP00000505111.1:n.*760G>A
ENST00000681621.1:c.*685G>A	ENSP00000505770.1:n.*685G>A
ENST00000681680.1:n.3196G>A
ENST00000681720.1:c.*556G>A	ENSP00000505438.1:n.*556G>A
ENST00000681730.1:n.1323G>A
ENST00000681790.1:c.843G>A	ENSP00000505130.1:p.Gln281=
ENST00000681837.1:n.1717G>A
ENST00000681913.1:n.3347G>A
ENST00000681916.1:c.*869G>A	ENSP00000506477.1:n.*869G>A
ENST00000681930.1:n.3225G>A
ENST00000370834.9:c.1200G>A	ENSP00000359871.5:p.Gln400=
ENST00000370841.8:c.1101G>A	ENSP00000359878.4:p.Gln367=
ENST00000420607.6:c.1113G>A	ENSP00000409612.2:p.Gln371=
ENST00000481374.1:n.374G>A
ENST00000525808.5:c.*687G>A	ENSP00000434823.1:n.*687G>A
ENST00000526129.5:c.*885G>A	ENSP00000434092.1:n.*885G>A
ENST00000526196.5:c.*869G>A	ENSP00000431953.1:n.*869G>A
ENST00000528016.1:c.160-7900G>A	ENSP00000434284.1:n.160-7900G>A
ENST00000529059.5:n.1010G>A
ENST00000541113.5:c.993G>A	ENSP00000442324.1:p.Gln331=
NM_000016.5:c.1101G>A	NP_000007.1:p.Gln367=
NM_001127328.2:c.1113G>A	NP_001120800.1:p.Gln371=
NM_001286042.1:c.993G>A	NP_001272971.1:p.Gln331=
NM_001286043.1:c.1200G>A	NP_001272972.1:p.Gln400=
NM_001286044.1:c.534G>A	NP_001272973.1:p.Gln178=
NM_000016.6:c.1101G>A MANE Select	NP_000007.1:p.Gln367=
NM_001127328.3:c.1113G>A	NP_001120800.1:p.Gln371=
NM_001286042.2:c.993G>A	NP_001272971.1:p.Gln331=
NM_001286043.2:c.1200G>A	NP_001272972.1:p.Gln400=
NM_001286044.2:c.534G>A	NP_001272973.1:p.Gln178=