Canonical Allele Identifier: CA220167

Gene: ACADM

Linked Data

• ClinVar Variation Id: 92255
• ClinVar RCV Id: RCV000077879
• dbSNP Id: rs398123071
• MyVariant Identifiers: chr1:g.76194173G>C (hg19) ; chr1:g.75728488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75728488G>C , CM000663.2:g.75728488G>C	GRCh38
NC_000001.10:g.76194173G>C , CM000663.1:g.76194173G>C	GRCh37
NC_000001.9:g.75966761G>C	NCBI36
NG_007045.2:g.9131G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.118G>C MANE Select	ENSP00000359878.5:p.Glu40Gln
ENST00000473018.3:n.475G>C
ENST00000525881.6:n.475G>C
ENST00000541113.6:c.118G>C	ENSP00000442324.2:p.Glu40Gln
ENST00000679509.1:n.475G>C
ENST00000679530.1:c.118G>C	ENSP00000506454.1:p.Glu40Gln
ENST00000679615.1:n.475G>C
ENST00000679687.1:c.30+3671G>C	ENSP00000506598.1:n.30+3671G>C
ENST00000679704.1:c.30+3671G>C	ENSP00000505117.1:n.30+3671G>C
ENST00000679709.1:c.*81G>C	ENSP00000506623.1:n.*81G>C
ENST00000679804.1:n.39+3671G>C
ENST00000679976.1:c.118G>C	ENSP00000505565.1:p.Glu40Gln
ENST00000680166.1:n.1640G>C
ENST00000680517.1:c.118G>C	ENSP00000505803.1:p.Glu40Gln
ENST00000680582.1:n.475G>C
ENST00000680613.1:c.118G>C	ENSP00000506114.1:p.Glu40Gln
ENST00000680662.1:c.118G>C	ENSP00000505080.1:p.Gly40Arg
ENST00000680691.1:c.118G>C	ENSP00000506487.1:p.Glu40Gln
ENST00000680694.1:c.118G>C	ENSP00000505658.1:p.Glu40Gln
ENST00000680743.1:c.30+3671G>C	ENSP00000505073.1:n.30+3671G>C
ENST00000680749.1:c.118G>C	ENSP00000505122.1:p.Glu40Gln
ENST00000680798.1:c.118G>C	ENSP00000505670.1:p.Glu40Gln
ENST00000680805.1:c.118G>C	ENSP00000505447.1:p.Glu40Gln
ENST00000680844.1:c.30+3671G>C	ENSP00000506541.1:n.30+3671G>C
ENST00000680948.1:c.30+3671G>C	ENSP00000505441.1:n.30+3671G>C
ENST00000680964.1:c.118G>C	ENSP00000505961.1:p.Glu40Gln
ENST00000681037.1:c.118G>C	ENSP00000506025.1:p.Glu40Gln
ENST00000681063.1:c.118G>C	ENSP00000506616.1:p.Glu40Gln
ENST00000681209.1:c.118G>C	ENSP00000505877.1:p.Glu40Gln
ENST00000681278.1:n.475G>C
ENST00000681289.1:n.475G>C
ENST00000681361.1:c.30+3671G>C	ENSP00000506679.1:n.30+3671G>C
ENST00000681430.1:c.118G>C	ENSP00000506301.1:p.Glu40Gln
ENST00000681446.1:c.118G>C	ENSP00000506244.1:p.Glu40Gln
ENST00000681450.1:c.30+3671G>C	ENSP00000505660.1:n.30+3671G>C
ENST00000681548.1:c.30+3671G>C	ENSP00000505275.1:n.30+3671G>C
ENST00000681616.1:c.30+3671G>C	ENSP00000505111.1:n.30+3671G>C
ENST00000681621.1:c.118G>C	ENSP00000505770.1:p.Glu40Gln
ENST00000681680.1:n.475G>C
ENST00000681720.1:c.30+3671G>C	ENSP00000505438.1:n.30+3671G>C
ENST00000681790.1:c.-249-3246G>C	ENSP00000505130.1:n.-249-3246G>C
ENST00000681837.1:n.129+3671G>C
ENST00000681913.1:n.475G>C
ENST00000681916.1:c.30+3671G>C	ENSP00000506477.1:n.30+3671G>C
ENST00000681930.1:n.475G>C
ENST00000370834.9:c.118G>C	ENSP00000359871.5:p.Glu40Gln
ENST00000370841.8:c.118G>C	ENSP00000359878.4:p.Glu40Gln
ENST00000420607.6:c.130G>C	ENSP00000409612.2:p.Glu44Gln
ENST00000473018.2:n.151G>C
ENST00000525808.5:c.30+3671G>C	ENSP00000434823.1:n.30+3671G>C
ENST00000525881.5:n.127+3671G>C
ENST00000526129.5:c.118G>C	ENSP00000434092.1:p.Glu40Gln
ENST00000526196.5:c.30+3671G>C	ENSP00000431953.1:n.30+3671G>C
ENST00000530953.6:c.118G>C	ENSP00000431372.1:p.Gly40Arg
ENST00000532509.5:c.118G>C	ENSP00000432522.1:p.Val40Leu
ENST00000534146.5:n.197G>C
ENST00000534334.5:c.118G>C	ENSP00000435584.1:p.Glu40Gln
ENST00000541113.5:c.10+3671G>C	ENSP00000442324.1:n.10+3671G>C
NM_000016.5:c.118G>C	NP_000007.1:p.Glu40Gln
NM_001127328.2:c.130G>C	NP_001120800.1:p.Glu44Gln
NM_001286042.1:c.10+3671G>C	NP_001272971.1:n.10+3671G>C
NM_001286043.1:c.118G>C	NP_001272972.1:p.Glu40Gln
NM_001286044.1:c.-268+3671G>C	NP_001272973.1:n.-268+3671G>C
NM_000016.6:c.118G>C MANE Select	NP_000007.1:p.Glu40Gln
NM_001127328.3:c.130G>C	NP_001120800.1:p.Glu44Gln
NM_001286042.2:c.10+3671G>C	NP_001272971.1:n.10+3671G>C
NM_001286043.2:c.118G>C	NP_001272972.1:p.Glu40Gln
NM_001286044.2:c.-268+3671G>C	NP_001272973.1:n.-268+3671G>C