Canonical Allele Identifier: CA340816731

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215200G>T (hg19) ; chr1:g.75749515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749515G>T , CM000663.2:g.75749515G>T	GRCh38
NC_000001.10:g.76215200G>T , CM000663.1:g.76215200G>T	GRCh37
NC_000001.9:g.75987788G>T	NCBI36
NG_007045.2:g.30158G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.805G>T MANE Select	ENSP00000359878.5:p.Gly269Cys
ENST00000473018.3:n.2929G>T
ENST00000532207.6:n.1694G>T
ENST00000541113.6:c.805G>T	ENSP00000442324.2:p.Gly269Cys
ENST00000679509.1:n.1767G>T
ENST00000679530.1:c.*573G>T	ENSP00000506454.1:n.*573G>T
ENST00000679615.1:n.2820G>T
ENST00000679687.1:c.367G>T	ENSP00000506598.1:p.Gly123Cys
ENST00000679704.1:c.*571G>T	ENSP00000505117.1:n.*571G>T
ENST00000679709.1:c.*768G>T	ENSP00000506623.1:n.*768G>T
ENST00000679976.1:c.*389G>T	ENSP00000505565.1:n.*389G>T
ENST00000680166.1:n.4094G>T
ENST00000680517.1:c.*193G>T	ENSP00000505803.1:n.*193G>T
ENST00000680582.1:n.1767G>T
ENST00000680613.1:c.*176G>T	ENSP00000506114.1:n.*176G>T
ENST00000680662.1:c.*719G>T	ENSP00000505080.1:n.*719G>T
ENST00000680691.1:c.*468G>T	ENSP00000506487.1:n.*468G>T
ENST00000680694.1:c.*393G>T	ENSP00000505658.1:n.*393G>T
ENST00000680743.1:c.*472G>T	ENSP00000505073.1:n.*472G>T
ENST00000680749.1:c.*90G>T	ENSP00000505122.1:n.*90G>T
ENST00000680798.1:c.*280G>T	ENSP00000505670.1:n.*280G>T
ENST00000680805.1:c.709-936G>T	ENSP00000505447.1:n.709-936G>T
ENST00000680844.1:c.*589G>T	ENSP00000506541.1:n.*589G>T
ENST00000680948.1:c.*672G>T	ENSP00000505441.1:n.*672G>T
ENST00000680964.1:c.805G>T	ENSP00000505961.1:p.Gly269Cys
ENST00000681037.1:c.*2289G>T	ENSP00000506025.1:n.*2289G>T
ENST00000681063.1:c.600-936G>T	ENSP00000506616.1:n.600-936G>T
ENST00000681209.1:c.*460G>T	ENSP00000505877.1:n.*460G>T
ENST00000681278.1:n.1162G>T
ENST00000681289.1:n.4800G>T
ENST00000681361.1:c.*472G>T	ENSP00000506679.1:n.*472G>T
ENST00000681430.1:c.805G>T	ENSP00000506301.1:p.Gly269Cys
ENST00000681446.1:c.*387G>T	ENSP00000506244.1:n.*387G>T
ENST00000681450.1:c.*476G>T	ENSP00000505660.1:n.*476G>T
ENST00000681548.1:c.*391G>T	ENSP00000505275.1:n.*391G>T
ENST00000681616.1:c.*464G>T	ENSP00000505111.1:n.*464G>T
ENST00000681621.1:c.*389G>T	ENSP00000505770.1:n.*389G>T
ENST00000681680.1:n.2900G>T
ENST00000681720.1:c.*260G>T	ENSP00000505438.1:n.*260G>T
ENST00000681730.1:n.1027G>T
ENST00000681790.1:c.547G>T	ENSP00000505130.1:p.Gly183Cys
ENST00000681837.1:n.1421G>T
ENST00000681913.1:n.2929G>T
ENST00000681916.1:c.*573G>T	ENSP00000506477.1:n.*573G>T
ENST00000681930.1:n.2929G>T
ENST00000370834.9:c.904G>T	ENSP00000359871.5:p.Gly302Cys
ENST00000370841.8:c.805G>T	ENSP00000359878.4:p.Gly269Cys
ENST00000420607.6:c.817G>T	ENSP00000409612.2:p.Gly273Cys
ENST00000525808.5:c.*391G>T	ENSP00000434823.1:n.*391G>T
ENST00000526129.5:c.*589G>T	ENSP00000434092.1:n.*589G>T
ENST00000526196.5:c.*573G>T	ENSP00000431953.1:n.*573G>T
ENST00000526930.1:n.578G>T
ENST00000528016.1:c.19G>T	ENSP00000434284.1:p.Gly7Cys
ENST00000529059.5:n.714G>T
ENST00000530953.6:c.*302G>T	ENSP00000431372.1:n.*302G>T
ENST00000532207.5:n.535G>T
ENST00000532509.5:c.*569G>T	ENSP00000432522.1:n.*569G>T
ENST00000534334.5:c.*389G>T	ENSP00000435584.1:n.*389G>T
ENST00000541113.5:c.697G>T	ENSP00000442324.1:p.Gly233Cys
NM_000016.5:c.805G>T	NP_000007.1:p.Gly269Cys
NM_001127328.2:c.817G>T	NP_001120800.1:p.Gly273Cys
NM_001286042.1:c.697G>T	NP_001272971.1:p.Gly233Cys
NM_001286043.1:c.904G>T	NP_001272972.1:p.Gly302Cys
NM_001286044.1:c.238G>T	NP_001272973.1:p.Gly80Cys
NM_000016.6:c.805G>T MANE Select	NP_000007.1:p.Gly269Cys
NM_001127328.3:c.817G>T	NP_001120800.1:p.Gly273Cys
NM_001286042.2:c.697G>T	NP_001272971.1:p.Gly233Cys
NM_001286043.2:c.904G>T	NP_001272972.1:p.Gly302Cys
NM_001286044.2:c.238G>T	NP_001272973.1:p.Gly80Cys