Canonical Allele Identifier: CA340816546

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1438490
• ClinVar RCV Id: RCV001934287 ; RCV002307800
• dbSNP Id: rs1462279583
• gnomAD v2: 1-76215122-C-T
• gnomAD v3: 1-75749437-C-T
• gnomAD v4: 1-75749437-C-T
• MyVariant Identifiers: chr1:g.76215122C>T (hg19) ; chr1:g.75749437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749437C>T , CM000663.2:g.75749437C>T	GRCh38
NC_000001.10:g.76215122C>T , CM000663.1:g.76215122C>T	GRCh37
NC_000001.9:g.75987710C>T	NCBI36
NG_007045.2:g.30080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.727C>T MANE Select	ENSP00000359878.5:p.Arg243Ter
ENST00000473018.3:n.2851C>T
ENST00000532207.6:n.1616C>T
ENST00000541113.6:c.727C>T	ENSP00000442324.2:p.Arg243Ter
ENST00000679509.1:n.1689C>T
ENST00000679530.1:c.*495C>T	ENSP00000506454.1:n.*495C>T
ENST00000679615.1:n.2742C>T
ENST00000679687.1:c.289C>T	ENSP00000506598.1:p.Arg97Ter
ENST00000679704.1:c.*493C>T	ENSP00000505117.1:n.*493C>T
ENST00000679709.1:c.*690C>T	ENSP00000506623.1:n.*690C>T
ENST00000679976.1:c.*311C>T	ENSP00000505565.1:n.*311C>T
ENST00000680166.1:n.4016C>T
ENST00000680517.1:c.*115C>T	ENSP00000505803.1:n.*115C>T
ENST00000680582.1:n.1689C>T
ENST00000680613.1:c.*98C>T	ENSP00000506114.1:n.*98C>T
ENST00000680662.1:c.*641C>T	ENSP00000505080.1:n.*641C>T
ENST00000680691.1:c.*390C>T	ENSP00000506487.1:n.*390C>T
ENST00000680694.1:c.*315C>T	ENSP00000505658.1:n.*315C>T
ENST00000680743.1:c.*394C>T	ENSP00000505073.1:n.*394C>T
ENST00000680749.1:c.*12C>T	ENSP00000505122.1:n.*12C>T
ENST00000680798.1:c.*202C>T	ENSP00000505670.1:n.*202C>T
ENST00000680805.1:c.709-1014C>T	ENSP00000505447.1:n.709-1014C>T
ENST00000680844.1:c.*511C>T	ENSP00000506541.1:n.*511C>T
ENST00000680948.1:c.*594C>T	ENSP00000505441.1:n.*594C>T
ENST00000680964.1:c.727C>T	ENSP00000505961.1:p.Arg243Ter
ENST00000681037.1:c.*2211C>T	ENSP00000506025.1:n.*2211C>T
ENST00000681063.1:c.600-1014C>T	ENSP00000506616.1:n.600-1014C>T
ENST00000681209.1:c.*382C>T	ENSP00000505877.1:n.*382C>T
ENST00000681278.1:n.1084C>T
ENST00000681289.1:n.4722C>T
ENST00000681361.1:c.*394C>T	ENSP00000506679.1:n.*394C>T
ENST00000681430.1:c.727C>T	ENSP00000506301.1:p.Arg243Ter
ENST00000681446.1:c.*309C>T	ENSP00000506244.1:n.*309C>T
ENST00000681450.1:c.*398C>T	ENSP00000505660.1:n.*398C>T
ENST00000681548.1:c.*313C>T	ENSP00000505275.1:n.*313C>T
ENST00000681616.1:c.*386C>T	ENSP00000505111.1:n.*386C>T
ENST00000681621.1:c.*311C>T	ENSP00000505770.1:n.*311C>T
ENST00000681680.1:n.2822C>T
ENST00000681720.1:c.*182C>T	ENSP00000505438.1:n.*182C>T
ENST00000681730.1:n.949C>T
ENST00000681790.1:c.469C>T	ENSP00000505130.1:p.Arg157Ter
ENST00000681837.1:n.1343C>T
ENST00000681913.1:n.2851C>T
ENST00000681916.1:c.*495C>T	ENSP00000506477.1:n.*495C>T
ENST00000681930.1:n.2851C>T
ENST00000370834.9:c.826C>T	ENSP00000359871.5:p.Arg276Ter
ENST00000370841.8:c.727C>T	ENSP00000359878.4:p.Arg243Ter
ENST00000420607.6:c.739C>T	ENSP00000409612.2:p.Arg247Ter
ENST00000525808.5:c.*313C>T	ENSP00000434823.1:n.*313C>T
ENST00000526129.5:c.*511C>T	ENSP00000434092.1:n.*511C>T
ENST00000526196.5:c.*495C>T	ENSP00000431953.1:n.*495C>T
ENST00000526930.1:n.500C>T
ENST00000529059.5:n.636C>T
ENST00000530953.6:c.*224C>T	ENSP00000431372.1:n.*224C>T
ENST00000532207.5:n.457C>T
ENST00000532509.5:c.*491C>T	ENSP00000432522.1:n.*491C>T
ENST00000534334.5:c.*311C>T	ENSP00000435584.1:n.*311C>T
ENST00000541113.5:c.619C>T	ENSP00000442324.1:p.Arg207Ter
NM_000016.5:c.727C>T	NP_000007.1:p.Arg243Ter
NM_001127328.2:c.739C>T	NP_001120800.1:p.Arg247Ter
NM_001286042.1:c.619C>T	NP_001272971.1:p.Arg207Ter
NM_001286043.1:c.826C>T	NP_001272972.1:p.Arg276Ter
NM_001286044.1:c.160C>T	NP_001272973.1:p.Arg54Ter
NM_000016.6:c.727C>T MANE Select	NP_000007.1:p.Arg243Ter
NM_001127328.3:c.739C>T	NP_001120800.1:p.Arg247Ter
NM_001286042.2:c.619C>T	NP_001272971.1:p.Arg207Ter
NM_001286043.2:c.826C>T	NP_001272972.1:p.Arg276Ter
NM_001286044.2:c.160C>T	NP_001272973.1:p.Arg54Ter