Canonical Allele Identifier: CA418545021

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1541934
• ClinVar RCV Id: RCV002164839 ; RCV002372840
• dbSNP Id: rs1302160137
• gnomAD v2: 1-76216165-A-G
• gnomAD v4: 1-75750480-A-G
• MyVariant Identifiers: chr1:g.76216165A>G (hg19) ; chr1:g.75750480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750480A>G , CM000663.2:g.75750480A>G	GRCh38
NC_000001.10:g.76216165A>G , CM000663.1:g.76216165A>G	GRCh37
NC_000001.9:g.75988753A>G	NCBI36
NG_007045.2:g.31123A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.879A>G MANE Select	ENSP00000359878.5:p.Gln293=
ENST00000473018.3:n.3003A>G
ENST00000532207.6:n.1768A>G
ENST00000541113.6:c.849+921A>G	ENSP00000442324.2:n.849+921A>G
ENST00000679509.1:n.1841A>G
ENST00000679530.1:c.*647A>G	ENSP00000506454.1:n.*647A>G
ENST00000679615.1:n.2894A>G
ENST00000679687.1:c.441A>G	ENSP00000506598.1:p.Gln147=
ENST00000679704.1:c.*645A>G	ENSP00000505117.1:n.*645A>G
ENST00000679709.1:c.*842A>G	ENSP00000506623.1:n.*842A>G
ENST00000679976.1:c.*463A>G	ENSP00000505565.1:n.*463A>G
ENST00000680166.1:n.4168A>G
ENST00000680315.1:n.762A>G
ENST00000680517.1:c.*267A>G	ENSP00000505803.1:n.*267A>G
ENST00000680582.1:n.1841A>G
ENST00000680613.1:c.*250A>G	ENSP00000506114.1:n.*250A>G
ENST00000680662.1:c.*793A>G	ENSP00000505080.1:n.*793A>G
ENST00000680691.1:c.*542A>G	ENSP00000506487.1:n.*542A>G
ENST00000680694.1:c.*467A>G	ENSP00000505658.1:n.*467A>G
ENST00000680743.1:c.*546A>G	ENSP00000505073.1:n.*546A>G
ENST00000680749.1:c.*164A>G	ENSP00000505122.1:n.*164A>G
ENST00000680798.1:c.*354A>G	ENSP00000505670.1:n.*354A>G
ENST00000680805.1:c.738A>G	ENSP00000505447.1:p.Gln246=
ENST00000680844.1:c.*663A>G	ENSP00000506541.1:n.*663A>G
ENST00000680948.1:c.*746A>G	ENSP00000505441.1:n.*746A>G
ENST00000680964.1:c.879A>G	ENSP00000505961.1:p.Gln293=
ENST00000681037.1:c.*2363A>G	ENSP00000506025.1:n.*2363A>G
ENST00000681063.1:c.*26A>G	ENSP00000506616.1:n.*26A>G
ENST00000681209.1:c.*534A>G	ENSP00000505877.1:n.*534A>G
ENST00000681278.1:n.1236A>G
ENST00000681289.1:n.4874A>G
ENST00000681361.1:c.*546A>G	ENSP00000506679.1:n.*546A>G
ENST00000681430.1:c.879A>G	ENSP00000506301.1:p.Gln293=
ENST00000681446.1:c.*461A>G	ENSP00000506244.1:n.*461A>G
ENST00000681450.1:c.*550A>G	ENSP00000505660.1:n.*550A>G
ENST00000681548.1:c.*465A>G	ENSP00000505275.1:n.*465A>G
ENST00000681616.1:c.*538A>G	ENSP00000505111.1:n.*538A>G
ENST00000681621.1:c.*463A>G	ENSP00000505770.1:n.*463A>G
ENST00000681680.1:n.2974A>G
ENST00000681720.1:c.*334A>G	ENSP00000505438.1:n.*334A>G
ENST00000681730.1:n.1101A>G
ENST00000681790.1:c.621A>G	ENSP00000505130.1:p.Gln207=
ENST00000681837.1:n.1495A>G
ENST00000681913.1:n.3003A>G
ENST00000681916.1:c.*647A>G	ENSP00000506477.1:n.*647A>G
ENST00000681930.1:n.3003A>G
ENST00000370834.9:c.978A>G	ENSP00000359871.5:p.Gln326=
ENST00000370841.8:c.879A>G	ENSP00000359878.4:p.Gln293=
ENST00000420607.6:c.891A>G	ENSP00000409612.2:p.Gln297=
ENST00000481374.1:n.30A>G
ENST00000525808.5:c.*465A>G	ENSP00000434823.1:n.*465A>G
ENST00000526129.5:c.*663A>G	ENSP00000434092.1:n.*663A>G
ENST00000526196.5:c.*647A>G	ENSP00000431953.1:n.*647A>G
ENST00000528016.1:c.93A>G	ENSP00000434284.1:p.Gln31=
ENST00000529059.5:n.788A>G
ENST00000532207.5:n.609A>G
ENST00000534334.5:c.*463A>G	ENSP00000435584.1:n.*463A>G
ENST00000541113.5:c.771A>G	ENSP00000442324.1:p.Gln257=
NM_000016.5:c.879A>G	NP_000007.1:p.Gln293=
NM_001127328.2:c.891A>G	NP_001120800.1:p.Gln297=
NM_001286042.1:c.771A>G	NP_001272971.1:p.Gln257=
NM_001286043.1:c.978A>G	NP_001272972.1:p.Gln326=
NM_001286044.1:c.312A>G	NP_001272973.1:p.Gln104=
NM_000016.6:c.879A>G MANE Select	NP_000007.1:p.Gln293=
NM_001127328.3:c.891A>G	NP_001120800.1:p.Gln297=
NM_001286042.2:c.771A>G	NP_001272971.1:p.Gln257=
NM_001286043.2:c.978A>G	NP_001272972.1:p.Gln326=
NM_001286044.2:c.312A>G	NP_001272973.1:p.Gln104=