Canonical Allele Identifier: CA340816777

Gene: ACADM

Linked Data

• dbSNP Id: rs1197329004
• gnomAD v2: 1-76215216-T-G
• gnomAD v4: 1-75749531-T-G
• MyVariant Identifiers: chr1:g.76215216T>G (hg19) ; chr1:g.75749531T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749531T>G , CM000663.2:g.75749531T>G	GRCh38
NC_000001.10:g.76215216T>G , CM000663.1:g.76215216T>G	GRCh37
NC_000001.9:g.75987804T>G	NCBI36
NG_007045.2:g.30174T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.821T>G MANE Select	ENSP00000359878.5:p.Met274Arg
ENST00000473018.3:n.2945T>G
ENST00000532207.6:n.1710T>G
ENST00000541113.6:c.821T>G	ENSP00000442324.2:p.Met274Arg
ENST00000679509.1:n.1783T>G
ENST00000679530.1:c.*589T>G	ENSP00000506454.1:n.*589T>G
ENST00000679615.1:n.2836T>G
ENST00000679687.1:c.383T>G	ENSP00000506598.1:p.Met128Arg
ENST00000679704.1:c.*587T>G	ENSP00000505117.1:n.*587T>G
ENST00000679709.1:c.*784T>G	ENSP00000506623.1:n.*784T>G
ENST00000679976.1:c.*405T>G	ENSP00000505565.1:n.*405T>G
ENST00000680166.1:n.4110T>G
ENST00000680517.1:c.*209T>G	ENSP00000505803.1:n.*209T>G
ENST00000680582.1:n.1783T>G
ENST00000680613.1:c.*192T>G	ENSP00000506114.1:n.*192T>G
ENST00000680662.1:c.*735T>G	ENSP00000505080.1:n.*735T>G
ENST00000680691.1:c.*484T>G	ENSP00000506487.1:n.*484T>G
ENST00000680694.1:c.*409T>G	ENSP00000505658.1:n.*409T>G
ENST00000680743.1:c.*488T>G	ENSP00000505073.1:n.*488T>G
ENST00000680749.1:c.*106T>G	ENSP00000505122.1:n.*106T>G
ENST00000680798.1:c.*296T>G	ENSP00000505670.1:n.*296T>G
ENST00000680805.1:c.709-920T>G	ENSP00000505447.1:n.709-920T>G
ENST00000680844.1:c.*605T>G	ENSP00000506541.1:n.*605T>G
ENST00000680948.1:c.*688T>G	ENSP00000505441.1:n.*688T>G
ENST00000680964.1:c.821T>G	ENSP00000505961.1:p.Met274Arg
ENST00000681037.1:c.*2305T>G	ENSP00000506025.1:n.*2305T>G
ENST00000681063.1:c.600-920T>G	ENSP00000506616.1:n.600-920T>G
ENST00000681209.1:c.*476T>G	ENSP00000505877.1:n.*476T>G
ENST00000681278.1:n.1178T>G
ENST00000681289.1:n.4816T>G
ENST00000681361.1:c.*488T>G	ENSP00000506679.1:n.*488T>G
ENST00000681430.1:c.821T>G	ENSP00000506301.1:p.Met274Arg
ENST00000681446.1:c.*403T>G	ENSP00000506244.1:n.*403T>G
ENST00000681450.1:c.*492T>G	ENSP00000505660.1:n.*492T>G
ENST00000681548.1:c.*407T>G	ENSP00000505275.1:n.*407T>G
ENST00000681616.1:c.*480T>G	ENSP00000505111.1:n.*480T>G
ENST00000681621.1:c.*405T>G	ENSP00000505770.1:n.*405T>G
ENST00000681680.1:n.2916T>G
ENST00000681720.1:c.*276T>G	ENSP00000505438.1:n.*276T>G
ENST00000681730.1:n.1043T>G
ENST00000681790.1:c.563T>G	ENSP00000505130.1:p.Met188Arg
ENST00000681837.1:n.1437T>G
ENST00000681913.1:n.2945T>G
ENST00000681916.1:c.*589T>G	ENSP00000506477.1:n.*589T>G
ENST00000681930.1:n.2945T>G
ENST00000370834.9:c.920T>G	ENSP00000359871.5:p.Met307Arg
ENST00000370841.8:c.821T>G	ENSP00000359878.4:p.Met274Arg
ENST00000420607.6:c.833T>G	ENSP00000409612.2:p.Met278Arg
ENST00000525808.5:c.*407T>G	ENSP00000434823.1:n.*407T>G
ENST00000526129.5:c.*605T>G	ENSP00000434092.1:n.*605T>G
ENST00000526196.5:c.*589T>G	ENSP00000431953.1:n.*589T>G
ENST00000528016.1:c.35T>G	ENSP00000434284.1:p.Met12Arg
ENST00000529059.5:n.730T>G
ENST00000530953.6:c.*318T>G	ENSP00000431372.1:n.*318T>G
ENST00000532207.5:n.551T>G
ENST00000532509.5:c.*585T>G	ENSP00000432522.1:n.*585T>G
ENST00000534334.5:c.*405T>G	ENSP00000435584.1:n.*405T>G
ENST00000541113.5:c.713T>G	ENSP00000442324.1:p.Met238Arg
NM_000016.5:c.821T>G	NP_000007.1:p.Met274Arg
NM_001127328.2:c.833T>G	NP_001120800.1:p.Met278Arg
NM_001286042.1:c.713T>G	NP_001272971.1:p.Met238Arg
NM_001286043.1:c.920T>G	NP_001272972.1:p.Met307Arg
NM_001286044.1:c.254T>G	NP_001272973.1:p.Met85Arg
NM_000016.6:c.821T>G MANE Select	NP_000007.1:p.Met274Arg
NM_001127328.3:c.833T>G	NP_001120800.1:p.Met278Arg
NM_001286042.2:c.713T>G	NP_001272971.1:p.Met238Arg
NM_001286043.2:c.920T>G	NP_001272972.1:p.Met307Arg
NM_001286044.2:c.254T>G	NP_001272973.1:p.Met85Arg