Canonical Allele Identifier: CA340818045

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2679893
• ClinVar RCV Id: RCV003474298
• dbSNP Id: rs1648832398
• gnomAD v4: 1-75761216-G-T
• MyVariant Identifiers: chr1:g.76226901G>T (hg19) ; chr1:g.75761216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761216G>T , CM000663.2:g.75761216G>T	GRCh38
NC_000001.10:g.76226901G>T , CM000663.1:g.76226901G>T	GRCh37
NC_000001.9:g.75999489G>T	NCBI36
NG_007045.2:g.41859G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1040G>T MANE Select	ENSP00000359878.5:p.Gly347Val
ENST00000473018.3:n.3164G>T
ENST00000532207.6:n.2051G>T
ENST00000541113.6:c.944G>T	ENSP00000442324.2:p.Gly315Val
ENST00000679509.1:n.2002G>T
ENST00000679530.1:c.*808G>T	ENSP00000506454.1:n.*808G>T
ENST00000679615.1:n.3055G>T
ENST00000679687.1:c.602G>T	ENSP00000506598.1:p.Gly201Val
ENST00000679704.1:c.*806G>T	ENSP00000505117.1:n.*806G>T
ENST00000679709.1:c.*1003G>T	ENSP00000506623.1:n.*1003G>T
ENST00000679976.1:c.*624G>T	ENSP00000505565.1:n.*624G>T
ENST00000680166.1:n.4329G>T
ENST00000680315.1:n.923G>T
ENST00000680517.1:c.*428G>T	ENSP00000505803.1:n.*428G>T
ENST00000680582.1:n.2002G>T
ENST00000680613.1:c.*533G>T	ENSP00000506114.1:n.*533G>T
ENST00000680662.1:c.*954G>T	ENSP00000505080.1:n.*954G>T
ENST00000680691.1:c.*703G>T	ENSP00000506487.1:n.*703G>T
ENST00000680694.1:c.*628G>T	ENSP00000505658.1:n.*628G>T
ENST00000680743.1:c.*829G>T	ENSP00000505073.1:n.*829G>T
ENST00000680749.1:c.*325G>T	ENSP00000505122.1:n.*325G>T
ENST00000680798.1:c.*515G>T	ENSP00000505670.1:n.*515G>T
ENST00000680805.1:c.899G>T	ENSP00000505447.1:p.Gly300Val
ENST00000680844.1:c.*824G>T	ENSP00000506541.1:n.*824G>T
ENST00000680948.1:c.*907G>T	ENSP00000505441.1:n.*907G>T
ENST00000680964.1:c.*133G>T	ENSP00000505961.1:n.*133G>T
ENST00000681037.1:c.*2524G>T	ENSP00000506025.1:n.*2524G>T
ENST00000681063.1:c.*309G>T	ENSP00000506616.1:n.*309G>T
ENST00000681209.1:c.*695G>T	ENSP00000505877.1:n.*695G>T
ENST00000681278.1:n.1742G>T
ENST00000681289.1:n.5035G>T
ENST00000681361.1:c.*707G>T	ENSP00000506679.1:n.*707G>T
ENST00000681430.1:c.*133G>T	ENSP00000506301.1:n.*133G>T
ENST00000681446.1:c.*744G>T	ENSP00000506244.1:n.*744G>T
ENST00000681450.1:c.*711G>T	ENSP00000505660.1:n.*711G>T
ENST00000681548.1:c.*626G>T	ENSP00000505275.1:n.*626G>T
ENST00000681616.1:c.*699G>T	ENSP00000505111.1:n.*699G>T
ENST00000681621.1:c.*624G>T	ENSP00000505770.1:n.*624G>T
ENST00000681680.1:n.3135G>T
ENST00000681720.1:c.*495G>T	ENSP00000505438.1:n.*495G>T
ENST00000681730.1:n.1262G>T
ENST00000681790.1:c.782G>T	ENSP00000505130.1:p.Gly261Val
ENST00000681837.1:n.1656G>T
ENST00000681913.1:n.3286G>T
ENST00000681916.1:c.*808G>T	ENSP00000506477.1:n.*808G>T
ENST00000681930.1:n.3164G>T
ENST00000370834.9:c.1139G>T	ENSP00000359871.5:p.Gly380Val
ENST00000370841.8:c.1040G>T	ENSP00000359878.4:p.Gly347Val
ENST00000420607.6:c.1052G>T	ENSP00000409612.2:p.Gly351Val
ENST00000481374.1:n.313G>T
ENST00000525808.5:c.*626G>T	ENSP00000434823.1:n.*626G>T
ENST00000526129.5:c.*824G>T	ENSP00000434092.1:n.*824G>T
ENST00000526196.5:c.*808G>T	ENSP00000431953.1:n.*808G>T
ENST00000528016.1:c.160-7961G>T	ENSP00000434284.1:n.160-7961G>T
ENST00000529059.5:n.949G>T
ENST00000534334.5:c.*781G>T	ENSP00000435584.1:n.*781G>T
ENST00000541113.5:c.932G>T	ENSP00000442324.1:p.Gly311Val
NM_000016.5:c.1040G>T	NP_000007.1:p.Gly347Val
NM_001127328.2:c.1052G>T	NP_001120800.1:p.Gly351Val
NM_001286042.1:c.932G>T	NP_001272971.1:p.Gly311Val
NM_001286043.1:c.1139G>T	NP_001272972.1:p.Gly380Val
NM_001286044.1:c.473G>T	NP_001272973.1:p.Gly158Val
NM_000016.6:c.1040G>T MANE Select	NP_000007.1:p.Gly347Val
NM_001127328.3:c.1052G>T	NP_001120800.1:p.Gly351Val
NM_001286042.2:c.932G>T	NP_001272971.1:p.Gly311Val
NM_001286043.2:c.1139G>T	NP_001272972.1:p.Gly380Val
NM_001286044.2:c.473G>T	NP_001272973.1:p.Gly158Val