Canonical Allele Identifier: CA340815377

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205767T>G (hg19) ; chr1:g.75740082T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740082T>G , CM000663.2:g.75740082T>G	GRCh38
NC_000001.10:g.76205767T>G , CM000663.1:g.76205767T>G	GRCh37
NC_000001.9:g.75978355T>G	NCBI36
NG_007045.2:g.20725T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.571T>G MANE Select	ENSP00000359878.5:p.Trp191Gly
ENST00000473018.3:n.2695T>G
ENST00000541113.6:c.571T>G	ENSP00000442324.2:p.Trp191Gly
ENST00000679509.1:n.1533T>G
ENST00000679530.1:c.*339T>G	ENSP00000506454.1:n.*339T>G
ENST00000679615.1:n.2695T>G
ENST00000679687.1:c.133T>G	ENSP00000506598.1:p.Trp45Gly
ENST00000679704.1:c.*337T>G	ENSP00000505117.1:n.*337T>G
ENST00000679709.1:c.*534T>G	ENSP00000506623.1:n.*534T>G
ENST00000679804.1:n.310T>G
ENST00000679976.1:c.*155T>G	ENSP00000505565.1:n.*155T>G
ENST00000680166.1:n.3860T>G
ENST00000680517.1:c.*68T>G	ENSP00000505803.1:n.*68T>G
ENST00000680582.1:n.1533T>G
ENST00000680613.1:c.571T>G	ENSP00000506114.1:p.Trp191Gly
ENST00000680662.1:c.*485T>G	ENSP00000505080.1:n.*485T>G
ENST00000680691.1:c.*234T>G	ENSP00000506487.1:n.*234T>G
ENST00000680694.1:c.*159T>G	ENSP00000505658.1:n.*159T>G
ENST00000680743.1:c.*238T>G	ENSP00000505073.1:n.*238T>G
ENST00000680749.1:c.571T>G	ENSP00000505122.1:p.Trp191Gly
ENST00000680798.1:c.*155T>G	ENSP00000505670.1:n.*155T>G
ENST00000680805.1:c.571T>G	ENSP00000505447.1:p.Trp191Gly
ENST00000680844.1:c.*355T>G	ENSP00000506541.1:n.*355T>G
ENST00000680948.1:c.*438T>G	ENSP00000505441.1:n.*438T>G
ENST00000680964.1:c.571T>G	ENSP00000505961.1:p.Trp191Gly
ENST00000681037.1:c.571T>G	ENSP00000506025.1:p.Trp191Gly
ENST00000681063.1:c.571T>G	ENSP00000506616.1:p.Trp191Gly
ENST00000681209.1:c.*335T>G	ENSP00000505877.1:n.*335T>G
ENST00000681278.1:n.928T>G
ENST00000681289.1:n.928T>G
ENST00000681361.1:c.*238T>G	ENSP00000506679.1:n.*238T>G
ENST00000681430.1:c.571T>G	ENSP00000506301.1:p.Trp191Gly
ENST00000681446.1:c.*153T>G	ENSP00000506244.1:n.*153T>G
ENST00000681450.1:c.*242T>G	ENSP00000505660.1:n.*242T>G
ENST00000681548.1:c.*157T>G	ENSP00000505275.1:n.*157T>G
ENST00000681616.1:c.*339T>G	ENSP00000505111.1:n.*339T>G
ENST00000681621.1:c.*155T>G	ENSP00000505770.1:n.*155T>G
ENST00000681680.1:n.2695T>G
ENST00000681720.1:c.*55-5724T>G	ENSP00000505438.1:n.*55-5724T>G
ENST00000681730.1:n.793T>G
ENST00000681790.1:c.313T>G	ENSP00000505130.1:p.Trp105Gly
ENST00000681837.1:n.1187T>G
ENST00000681913.1:n.2695T>G
ENST00000681916.1:c.*339T>G	ENSP00000506477.1:n.*339T>G
ENST00000681930.1:n.2695T>G
ENST00000370834.9:c.670T>G	ENSP00000359871.5:p.Trp224Gly
ENST00000370841.8:c.571T>G	ENSP00000359878.4:p.Trp191Gly
ENST00000420607.6:c.583T>G	ENSP00000409612.2:p.Trp195Gly
ENST00000525808.5:c.*157T>G	ENSP00000434823.1:n.*157T>G
ENST00000526129.5:c.*355T>G	ENSP00000434092.1:n.*355T>G
ENST00000526196.5:c.*339T>G	ENSP00000431953.1:n.*339T>G
ENST00000526930.1:n.344T>G
ENST00000529059.5:n.480T>G
ENST00000530953.6:c.*68T>G	ENSP00000431372.1:n.*68T>G
ENST00000532509.5:c.*335T>G	ENSP00000432522.1:n.*335T>G
ENST00000534334.5:c.*155T>G	ENSP00000435584.1:n.*155T>G
ENST00000541113.5:c.463T>G	ENSP00000442324.1:p.Trp155Gly
NM_000016.5:c.571T>G	NP_000007.1:p.Trp191Gly
NM_001127328.2:c.583T>G	NP_001120800.1:p.Trp195Gly
NM_001286042.1:c.463T>G	NP_001272971.1:p.Trp155Gly
NM_001286043.1:c.670T>G	NP_001272972.1:p.Trp224Gly
NM_001286044.1:c.4T>G	NP_001272973.1:p.Trp2Gly
NM_000016.6:c.571T>G MANE Select	NP_000007.1:p.Trp191Gly
NM_001127328.3:c.583T>G	NP_001120800.1:p.Trp195Gly
NM_001286042.2:c.463T>G	NP_001272971.1:p.Trp155Gly
NM_001286043.2:c.670T>G	NP_001272972.1:p.Trp224Gly
NM_001286044.2:c.4T>G	NP_001272973.1:p.Trp2Gly