Canonical Allele Identifier: CA340816611

Gene: ACADM

Linked Data

• dbSNP Id: rs1431463788
• gnomAD v2: 1-76215155-G-T
• gnomAD v4: 1-75749470-G-T
• COSMIC: COSM4009896 ; COSM4009897
• MyVariant Identifiers: chr1:g.76215155G>T (hg19) ; chr1:g.75749470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749470G>T , CM000663.2:g.75749470G>T	GRCh38
NC_000001.10:g.76215155G>T , CM000663.1:g.76215155G>T	GRCh37
NC_000001.9:g.75987743G>T	NCBI36
NG_007045.2:g.30113G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.760G>T MANE Select	ENSP00000359878.5:p.Asp254Tyr
ENST00000473018.3:n.2884G>T
ENST00000532207.6:n.1649G>T
ENST00000541113.6:c.760G>T	ENSP00000442324.2:p.Asp254Tyr
ENST00000679509.1:n.1722G>T
ENST00000679530.1:c.*528G>T	ENSP00000506454.1:n.*528G>T
ENST00000679615.1:n.2775G>T
ENST00000679687.1:c.322G>T	ENSP00000506598.1:p.Asp108Tyr
ENST00000679704.1:c.*526G>T	ENSP00000505117.1:n.*526G>T
ENST00000679709.1:c.*723G>T	ENSP00000506623.1:n.*723G>T
ENST00000679976.1:c.*344G>T	ENSP00000505565.1:n.*344G>T
ENST00000680166.1:n.4049G>T
ENST00000680517.1:c.*148G>T	ENSP00000505803.1:n.*148G>T
ENST00000680582.1:n.1722G>T
ENST00000680613.1:c.*131G>T	ENSP00000506114.1:n.*131G>T
ENST00000680662.1:c.*674G>T	ENSP00000505080.1:n.*674G>T
ENST00000680691.1:c.*423G>T	ENSP00000506487.1:n.*423G>T
ENST00000680694.1:c.*348G>T	ENSP00000505658.1:n.*348G>T
ENST00000680743.1:c.*427G>T	ENSP00000505073.1:n.*427G>T
ENST00000680749.1:c.*45G>T	ENSP00000505122.1:n.*45G>T
ENST00000680798.1:c.*235G>T	ENSP00000505670.1:n.*235G>T
ENST00000680805.1:c.709-981G>T	ENSP00000505447.1:n.709-981G>T
ENST00000680844.1:c.*544G>T	ENSP00000506541.1:n.*544G>T
ENST00000680948.1:c.*627G>T	ENSP00000505441.1:n.*627G>T
ENST00000680964.1:c.760G>T	ENSP00000505961.1:p.Asp254Tyr
ENST00000681037.1:c.*2244G>T	ENSP00000506025.1:n.*2244G>T
ENST00000681063.1:c.600-981G>T	ENSP00000506616.1:n.600-981G>T
ENST00000681209.1:c.*415G>T	ENSP00000505877.1:n.*415G>T
ENST00000681278.1:n.1117G>T
ENST00000681289.1:n.4755G>T
ENST00000681361.1:c.*427G>T	ENSP00000506679.1:n.*427G>T
ENST00000681430.1:c.760G>T	ENSP00000506301.1:p.Asp254Tyr
ENST00000681446.1:c.*342G>T	ENSP00000506244.1:n.*342G>T
ENST00000681450.1:c.*431G>T	ENSP00000505660.1:n.*431G>T
ENST00000681548.1:c.*346G>T	ENSP00000505275.1:n.*346G>T
ENST00000681616.1:c.*419G>T	ENSP00000505111.1:n.*419G>T
ENST00000681621.1:c.*344G>T	ENSP00000505770.1:n.*344G>T
ENST00000681680.1:n.2855G>T
ENST00000681720.1:c.*215G>T	ENSP00000505438.1:n.*215G>T
ENST00000681730.1:n.982G>T
ENST00000681790.1:c.502G>T	ENSP00000505130.1:p.Asp168Tyr
ENST00000681837.1:n.1376G>T
ENST00000681913.1:n.2884G>T
ENST00000681916.1:c.*528G>T	ENSP00000506477.1:n.*528G>T
ENST00000681930.1:n.2884G>T
ENST00000370834.9:c.859G>T	ENSP00000359871.5:p.Asp287Tyr
ENST00000370841.8:c.760G>T	ENSP00000359878.4:p.Asp254Tyr
ENST00000420607.6:c.772G>T	ENSP00000409612.2:p.Asp258Tyr
ENST00000525808.5:c.*346G>T	ENSP00000434823.1:n.*346G>T
ENST00000526129.5:c.*544G>T	ENSP00000434092.1:n.*544G>T
ENST00000526196.5:c.*528G>T	ENSP00000431953.1:n.*528G>T
ENST00000526930.1:n.533G>T
ENST00000529059.5:n.669G>T
ENST00000530953.6:c.*257G>T	ENSP00000431372.1:n.*257G>T
ENST00000532207.5:n.490G>T
ENST00000532509.5:c.*524G>T	ENSP00000432522.1:n.*524G>T
ENST00000534334.5:c.*344G>T	ENSP00000435584.1:n.*344G>T
ENST00000541113.5:c.652G>T	ENSP00000442324.1:p.Asp218Tyr
NM_000016.5:c.760G>T	NP_000007.1:p.Asp254Tyr
NM_001127328.2:c.772G>T	NP_001120800.1:p.Asp258Tyr
NM_001286042.1:c.652G>T	NP_001272971.1:p.Asp218Tyr
NM_001286043.1:c.859G>T	NP_001272972.1:p.Asp287Tyr
NM_001286044.1:c.193G>T	NP_001272973.1:p.Asp65Tyr
NM_000016.6:c.760G>T MANE Select	NP_000007.1:p.Asp254Tyr
NM_001127328.3:c.772G>T	NP_001120800.1:p.Asp258Tyr
NM_001286042.2:c.652G>T	NP_001272971.1:p.Asp218Tyr
NM_001286043.2:c.859G>T	NP_001272972.1:p.Asp287Tyr
NM_001286044.2:c.193G>T	NP_001272973.1:p.Asp65Tyr