Canonical Allele Identifier: CA340816684

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215188G>C (hg19) ; chr1:g.75749503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749503G>C , CM000663.2:g.75749503G>C	GRCh38
NC_000001.10:g.76215188G>C , CM000663.1:g.76215188G>C	GRCh37
NC_000001.9:g.75987776G>C	NCBI36
NG_007045.2:g.30146G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.793G>C MANE Select	ENSP00000359878.5:p.Gly265Arg
ENST00000473018.3:n.2917G>C
ENST00000532207.6:n.1682G>C
ENST00000541113.6:c.793G>C	ENSP00000442324.2:p.Gly265Arg
ENST00000679509.1:n.1755G>C
ENST00000679530.1:c.*561G>C	ENSP00000506454.1:n.*561G>C
ENST00000679615.1:n.2808G>C
ENST00000679687.1:c.355G>C	ENSP00000506598.1:p.Gly119Arg
ENST00000679704.1:c.*559G>C	ENSP00000505117.1:n.*559G>C
ENST00000679709.1:c.*756G>C	ENSP00000506623.1:n.*756G>C
ENST00000679976.1:c.*377G>C	ENSP00000505565.1:n.*377G>C
ENST00000680166.1:n.4082G>C
ENST00000680517.1:c.*181G>C	ENSP00000505803.1:n.*181G>C
ENST00000680582.1:n.1755G>C
ENST00000680613.1:c.*164G>C	ENSP00000506114.1:n.*164G>C
ENST00000680662.1:c.*707G>C	ENSP00000505080.1:n.*707G>C
ENST00000680691.1:c.*456G>C	ENSP00000506487.1:n.*456G>C
ENST00000680694.1:c.*381G>C	ENSP00000505658.1:n.*381G>C
ENST00000680743.1:c.*460G>C	ENSP00000505073.1:n.*460G>C
ENST00000680749.1:c.*78G>C	ENSP00000505122.1:n.*78G>C
ENST00000680798.1:c.*268G>C	ENSP00000505670.1:n.*268G>C
ENST00000680805.1:c.709-948G>C	ENSP00000505447.1:n.709-948G>C
ENST00000680844.1:c.*577G>C	ENSP00000506541.1:n.*577G>C
ENST00000680948.1:c.*660G>C	ENSP00000505441.1:n.*660G>C
ENST00000680964.1:c.793G>C	ENSP00000505961.1:p.Gly265Arg
ENST00000681037.1:c.*2277G>C	ENSP00000506025.1:n.*2277G>C
ENST00000681063.1:c.600-948G>C	ENSP00000506616.1:n.600-948G>C
ENST00000681209.1:c.*448G>C	ENSP00000505877.1:n.*448G>C
ENST00000681278.1:n.1150G>C
ENST00000681289.1:n.4788G>C
ENST00000681361.1:c.*460G>C	ENSP00000506679.1:n.*460G>C
ENST00000681430.1:c.793G>C	ENSP00000506301.1:p.Gly265Arg
ENST00000681446.1:c.*375G>C	ENSP00000506244.1:n.*375G>C
ENST00000681450.1:c.*464G>C	ENSP00000505660.1:n.*464G>C
ENST00000681548.1:c.*379G>C	ENSP00000505275.1:n.*379G>C
ENST00000681616.1:c.*452G>C	ENSP00000505111.1:n.*452G>C
ENST00000681621.1:c.*377G>C	ENSP00000505770.1:n.*377G>C
ENST00000681680.1:n.2888G>C
ENST00000681720.1:c.*248G>C	ENSP00000505438.1:n.*248G>C
ENST00000681730.1:n.1015G>C
ENST00000681790.1:c.535G>C	ENSP00000505130.1:p.Gly179Arg
ENST00000681837.1:n.1409G>C
ENST00000681913.1:n.2917G>C
ENST00000681916.1:c.*561G>C	ENSP00000506477.1:n.*561G>C
ENST00000681930.1:n.2917G>C
ENST00000370834.9:c.892G>C	ENSP00000359871.5:p.Gly298Arg
ENST00000370841.8:c.793G>C	ENSP00000359878.4:p.Gly265Arg
ENST00000420607.6:c.805G>C	ENSP00000409612.2:p.Gly269Arg
ENST00000525808.5:c.*379G>C	ENSP00000434823.1:n.*379G>C
ENST00000526129.5:c.*577G>C	ENSP00000434092.1:n.*577G>C
ENST00000526196.5:c.*561G>C	ENSP00000431953.1:n.*561G>C
ENST00000526930.1:n.566G>C
ENST00000528016.1:c.7G>C	ENSP00000434284.1:p.Gly3Arg
ENST00000529059.5:n.702G>C
ENST00000530953.6:c.*290G>C	ENSP00000431372.1:n.*290G>C
ENST00000532207.5:n.523G>C
ENST00000532509.5:c.*557G>C	ENSP00000432522.1:n.*557G>C
ENST00000534334.5:c.*377G>C	ENSP00000435584.1:n.*377G>C
ENST00000541113.5:c.685G>C	ENSP00000442324.1:p.Gly229Arg
NM_000016.5:c.793G>C	NP_000007.1:p.Gly265Arg
NM_001127328.2:c.805G>C	NP_001120800.1:p.Gly269Arg
NM_001286042.1:c.685G>C	NP_001272971.1:p.Gly229Arg
NM_001286043.1:c.892G>C	NP_001272972.1:p.Gly298Arg
NM_001286044.1:c.226G>C	NP_001272973.1:p.Gly76Arg
NM_000016.6:c.793G>C MANE Select	NP_000007.1:p.Gly265Arg
NM_001127328.3:c.805G>C	NP_001120800.1:p.Gly269Arg
NM_001286042.2:c.685G>C	NP_001272971.1:p.Gly229Arg
NM_001286043.2:c.892G>C	NP_001272972.1:p.Gly298Arg
NM_001286044.2:c.226G>C	NP_001272973.1:p.Gly76Arg