Canonical Allele Identifier: CA340818073

Gene: ACADM

Linked Data

• ClinVar Variation Id: 438861
• ClinVar RCV Id: RCV000508385 ; RCV001378636
• dbSNP Id: rs1227800781
• gnomAD v2: 1-76226916-A-G
• gnomAD v3: 1-75761231-A-G
• gnomAD v4: 1-75761231-A-G
• MyVariant Identifiers: chr1:g.76226916A>G (hg19) ; chr1:g.75761231A>G (hg38)
• PubMed: PMID:9158144

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761231A>G , CM000663.2:g.75761231A>G	GRCh38
NC_000001.10:g.76226916A>G , CM000663.1:g.76226916A>G	GRCh37
NC_000001.9:g.75999504A>G	NCBI36
NG_007045.2:g.41874A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1055A>G MANE Select	ENSP00000359878.5:p.Tyr352Cys
ENST00000473018.3:n.3179A>G
ENST00000532207.6:n.2066A>G
ENST00000541113.6:c.959A>G	ENSP00000442324.2:p.Tyr320Cys
ENST00000679509.1:n.2017A>G
ENST00000679530.1:c.*823A>G	ENSP00000506454.1:n.*823A>G
ENST00000679615.1:n.3070A>G
ENST00000679687.1:c.617A>G	ENSP00000506598.1:p.Tyr206Cys
ENST00000679704.1:c.*821A>G	ENSP00000505117.1:n.*821A>G
ENST00000679709.1:c.*1018A>G	ENSP00000506623.1:n.*1018A>G
ENST00000679976.1:c.*639A>G	ENSP00000505565.1:n.*639A>G
ENST00000680166.1:n.4344A>G
ENST00000680315.1:n.938A>G
ENST00000680517.1:c.*443A>G	ENSP00000505803.1:n.*443A>G
ENST00000680582.1:n.2017A>G
ENST00000680613.1:c.*548A>G	ENSP00000506114.1:n.*548A>G
ENST00000680662.1:c.*969A>G	ENSP00000505080.1:n.*969A>G
ENST00000680691.1:c.*718A>G	ENSP00000506487.1:n.*718A>G
ENST00000680694.1:c.*643A>G	ENSP00000505658.1:n.*643A>G
ENST00000680743.1:c.*844A>G	ENSP00000505073.1:n.*844A>G
ENST00000680749.1:c.*340A>G	ENSP00000505122.1:n.*340A>G
ENST00000680798.1:c.*530A>G	ENSP00000505670.1:n.*530A>G
ENST00000680805.1:c.914A>G	ENSP00000505447.1:p.Tyr305Cys
ENST00000680844.1:c.*839A>G	ENSP00000506541.1:n.*839A>G
ENST00000680948.1:c.*922A>G	ENSP00000505441.1:n.*922A>G
ENST00000680964.1:c.*148A>G	ENSP00000505961.1:n.*148A>G
ENST00000681037.1:c.*2539A>G	ENSP00000506025.1:n.*2539A>G
ENST00000681063.1:c.*324A>G	ENSP00000506616.1:n.*324A>G
ENST00000681209.1:c.*710A>G	ENSP00000505877.1:n.*710A>G
ENST00000681278.1:n.1757A>G
ENST00000681289.1:n.5050A>G
ENST00000681361.1:c.*722A>G	ENSP00000506679.1:n.*722A>G
ENST00000681430.1:c.*148A>G	ENSP00000506301.1:n.*148A>G
ENST00000681446.1:c.*759A>G	ENSP00000506244.1:n.*759A>G
ENST00000681450.1:c.*726A>G	ENSP00000505660.1:n.*726A>G
ENST00000681548.1:c.*641A>G	ENSP00000505275.1:n.*641A>G
ENST00000681616.1:c.*714A>G	ENSP00000505111.1:n.*714A>G
ENST00000681621.1:c.*639A>G	ENSP00000505770.1:n.*639A>G
ENST00000681680.1:n.3150A>G
ENST00000681720.1:c.*510A>G	ENSP00000505438.1:n.*510A>G
ENST00000681730.1:n.1277A>G
ENST00000681790.1:c.797A>G	ENSP00000505130.1:p.Tyr266Cys
ENST00000681837.1:n.1671A>G
ENST00000681913.1:n.3301A>G
ENST00000681916.1:c.*823A>G	ENSP00000506477.1:n.*823A>G
ENST00000681930.1:n.3179A>G
ENST00000370834.9:c.1154A>G	ENSP00000359871.5:p.Tyr385Cys
ENST00000370841.8:c.1055A>G	ENSP00000359878.4:p.Tyr352Cys
ENST00000420607.6:c.1067A>G	ENSP00000409612.2:p.Tyr356Cys
ENST00000481374.1:n.328A>G
ENST00000525808.5:c.*641A>G	ENSP00000434823.1:n.*641A>G
ENST00000526129.5:c.*839A>G	ENSP00000434092.1:n.*839A>G
ENST00000526196.5:c.*823A>G	ENSP00000431953.1:n.*823A>G
ENST00000528016.1:c.160-7946A>G	ENSP00000434284.1:n.160-7946A>G
ENST00000529059.5:n.964A>G
ENST00000534334.5:c.*796A>G	ENSP00000435584.1:n.*796A>G
ENST00000541113.5:c.947A>G	ENSP00000442324.1:p.Tyr316Cys
NM_000016.5:c.1055A>G	NP_000007.1:p.Tyr352Cys
NM_001127328.2:c.1067A>G	NP_001120800.1:p.Tyr356Cys
NM_001286042.1:c.947A>G	NP_001272971.1:p.Tyr316Cys
NM_001286043.1:c.1154A>G	NP_001272972.1:p.Tyr385Cys
NM_001286044.1:c.488A>G	NP_001272973.1:p.Tyr163Cys
NM_000016.6:c.1055A>G MANE Select	NP_000007.1:p.Tyr352Cys
NM_001127328.3:c.1067A>G	NP_001120800.1:p.Tyr356Cys
NM_001286042.2:c.947A>G	NP_001272971.1:p.Tyr316Cys
NM_001286043.2:c.1154A>G	NP_001272972.1:p.Tyr385Cys
NM_001286044.2:c.488A>G	NP_001272973.1:p.Tyr163Cys