Canonical Allele Identifier: CA340816650

Gene: ACADM

Linked Data

• gnomAD v4: 1-75749488-G-C
• MyVariant Identifiers: chr1:g.76215173G>C (hg19) ; chr1:g.75749488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749488G>C , CM000663.2:g.75749488G>C	GRCh38
NC_000001.10:g.76215173G>C , CM000663.1:g.76215173G>C	GRCh37
NC_000001.9:g.75987761G>C	NCBI36
NG_007045.2:g.30131G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.778G>C MANE Select	ENSP00000359878.5:p.Glu260Gln
ENST00000473018.3:n.2902G>C
ENST00000532207.6:n.1667G>C
ENST00000541113.6:c.778G>C	ENSP00000442324.2:p.Glu260Gln
ENST00000679509.1:n.1740G>C
ENST00000679530.1:c.*546G>C	ENSP00000506454.1:n.*546G>C
ENST00000679615.1:n.2793G>C
ENST00000679687.1:c.340G>C	ENSP00000506598.1:p.Glu114Gln
ENST00000679704.1:c.*544G>C	ENSP00000505117.1:n.*544G>C
ENST00000679709.1:c.*741G>C	ENSP00000506623.1:n.*741G>C
ENST00000679976.1:c.*362G>C	ENSP00000505565.1:n.*362G>C
ENST00000680166.1:n.4067G>C
ENST00000680517.1:c.*166G>C	ENSP00000505803.1:n.*166G>C
ENST00000680582.1:n.1740G>C
ENST00000680613.1:c.*149G>C	ENSP00000506114.1:n.*149G>C
ENST00000680662.1:c.*692G>C	ENSP00000505080.1:n.*692G>C
ENST00000680691.1:c.*441G>C	ENSP00000506487.1:n.*441G>C
ENST00000680694.1:c.*366G>C	ENSP00000505658.1:n.*366G>C
ENST00000680743.1:c.*445G>C	ENSP00000505073.1:n.*445G>C
ENST00000680749.1:c.*63G>C	ENSP00000505122.1:n.*63G>C
ENST00000680798.1:c.*253G>C	ENSP00000505670.1:n.*253G>C
ENST00000680805.1:c.709-963G>C	ENSP00000505447.1:n.709-963G>C
ENST00000680844.1:c.*562G>C	ENSP00000506541.1:n.*562G>C
ENST00000680948.1:c.*645G>C	ENSP00000505441.1:n.*645G>C
ENST00000680964.1:c.778G>C	ENSP00000505961.1:p.Glu260Gln
ENST00000681037.1:c.*2262G>C	ENSP00000506025.1:n.*2262G>C
ENST00000681063.1:c.600-963G>C	ENSP00000506616.1:n.600-963G>C
ENST00000681209.1:c.*433G>C	ENSP00000505877.1:n.*433G>C
ENST00000681278.1:n.1135G>C
ENST00000681289.1:n.4773G>C
ENST00000681361.1:c.*445G>C	ENSP00000506679.1:n.*445G>C
ENST00000681430.1:c.778G>C	ENSP00000506301.1:p.Glu260Gln
ENST00000681446.1:c.*360G>C	ENSP00000506244.1:n.*360G>C
ENST00000681450.1:c.*449G>C	ENSP00000505660.1:n.*449G>C
ENST00000681548.1:c.*364G>C	ENSP00000505275.1:n.*364G>C
ENST00000681616.1:c.*437G>C	ENSP00000505111.1:n.*437G>C
ENST00000681621.1:c.*362G>C	ENSP00000505770.1:n.*362G>C
ENST00000681680.1:n.2873G>C
ENST00000681720.1:c.*233G>C	ENSP00000505438.1:n.*233G>C
ENST00000681730.1:n.1000G>C
ENST00000681790.1:c.520G>C	ENSP00000505130.1:p.Glu174Gln
ENST00000681837.1:n.1394G>C
ENST00000681913.1:n.2902G>C
ENST00000681916.1:c.*546G>C	ENSP00000506477.1:n.*546G>C
ENST00000681930.1:n.2902G>C
ENST00000370834.9:c.877G>C	ENSP00000359871.5:p.Glu293Gln
ENST00000370841.8:c.778G>C	ENSP00000359878.4:p.Glu260Gln
ENST00000420607.6:c.790G>C	ENSP00000409612.2:p.Glu264Gln
ENST00000525808.5:c.*364G>C	ENSP00000434823.1:n.*364G>C
ENST00000526129.5:c.*562G>C	ENSP00000434092.1:n.*562G>C
ENST00000526196.5:c.*546G>C	ENSP00000431953.1:n.*546G>C
ENST00000526930.1:n.551G>C
ENST00000529059.5:n.687G>C
ENST00000530953.6:c.*275G>C	ENSP00000431372.1:n.*275G>C
ENST00000532207.5:n.508G>C
ENST00000532509.5:c.*542G>C	ENSP00000432522.1:n.*542G>C
ENST00000534334.5:c.*362G>C	ENSP00000435584.1:n.*362G>C
ENST00000541113.5:c.670G>C	ENSP00000442324.1:p.Glu224Gln
NM_000016.5:c.778G>C	NP_000007.1:p.Glu260Gln
NM_001127328.2:c.790G>C	NP_001120800.1:p.Glu264Gln
NM_001286042.1:c.670G>C	NP_001272971.1:p.Glu224Gln
NM_001286043.1:c.877G>C	NP_001272972.1:p.Glu293Gln
NM_001286044.1:c.211G>C	NP_001272973.1:p.Glu71Gln
NM_000016.6:c.778G>C MANE Select	NP_000007.1:p.Glu260Gln
NM_001127328.3:c.790G>C	NP_001120800.1:p.Glu264Gln
NM_001286042.2:c.670G>C	NP_001272971.1:p.Glu224Gln
NM_001286043.2:c.877G>C	NP_001272972.1:p.Glu293Gln
NM_001286044.2:c.211G>C	NP_001272973.1:p.Glu71Gln