Canonical Allele Identifier: CA340818107

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226933A>C (hg19) ; chr1:g.75761248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761248A>C , CM000663.2:g.75761248A>C	GRCh38
NC_000001.10:g.76226933A>C , CM000663.1:g.76226933A>C	GRCh37
NC_000001.9:g.75999521A>C	NCBI36
NG_007045.2:g.41891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1072A>C MANE Select	ENSP00000359878.5:p.Lys358Gln
ENST00000473018.3:n.3196A>C
ENST00000532207.6:n.2083A>C
ENST00000541113.6:c.976A>C	ENSP00000442324.2:p.Lys326Gln
ENST00000679509.1:n.2034A>C
ENST00000679530.1:c.*840A>C	ENSP00000506454.1:n.*840A>C
ENST00000679615.1:n.3087A>C
ENST00000679687.1:c.634A>C	ENSP00000506598.1:p.Lys212Gln
ENST00000679704.1:c.*838A>C	ENSP00000505117.1:n.*838A>C
ENST00000679709.1:c.*1035A>C	ENSP00000506623.1:n.*1035A>C
ENST00000679976.1:c.*656A>C	ENSP00000505565.1:n.*656A>C
ENST00000680166.1:n.4361A>C
ENST00000680315.1:n.955A>C
ENST00000680517.1:c.*460A>C	ENSP00000505803.1:n.*460A>C
ENST00000680582.1:n.2034A>C
ENST00000680613.1:c.*565A>C	ENSP00000506114.1:n.*565A>C
ENST00000680662.1:c.*986A>C	ENSP00000505080.1:n.*986A>C
ENST00000680691.1:c.*735A>C	ENSP00000506487.1:n.*735A>C
ENST00000680694.1:c.*660A>C	ENSP00000505658.1:n.*660A>C
ENST00000680743.1:c.*861A>C	ENSP00000505073.1:n.*861A>C
ENST00000680749.1:c.*357A>C	ENSP00000505122.1:n.*357A>C
ENST00000680798.1:c.*547A>C	ENSP00000505670.1:n.*547A>C
ENST00000680805.1:c.931A>C	ENSP00000505447.1:p.Lys311Gln
ENST00000680844.1:c.*856A>C	ENSP00000506541.1:n.*856A>C
ENST00000680948.1:c.*939A>C	ENSP00000505441.1:n.*939A>C
ENST00000680964.1:c.*165A>C	ENSP00000505961.1:n.*165A>C
ENST00000681037.1:c.*2556A>C	ENSP00000506025.1:n.*2556A>C
ENST00000681063.1:c.*341A>C	ENSP00000506616.1:n.*341A>C
ENST00000681209.1:c.*727A>C	ENSP00000505877.1:n.*727A>C
ENST00000681278.1:n.1774A>C
ENST00000681289.1:n.5067A>C
ENST00000681361.1:c.*739A>C	ENSP00000506679.1:n.*739A>C
ENST00000681430.1:c.*165A>C	ENSP00000506301.1:n.*165A>C
ENST00000681446.1:c.*776A>C	ENSP00000506244.1:n.*776A>C
ENST00000681450.1:c.*743A>C	ENSP00000505660.1:n.*743A>C
ENST00000681548.1:c.*658A>C	ENSP00000505275.1:n.*658A>C
ENST00000681616.1:c.*731A>C	ENSP00000505111.1:n.*731A>C
ENST00000681621.1:c.*656A>C	ENSP00000505770.1:n.*656A>C
ENST00000681680.1:n.3167A>C
ENST00000681720.1:c.*527A>C	ENSP00000505438.1:n.*527A>C
ENST00000681730.1:n.1294A>C
ENST00000681790.1:c.814A>C	ENSP00000505130.1:p.Lys272Gln
ENST00000681837.1:n.1688A>C
ENST00000681913.1:n.3318A>C
ENST00000681916.1:c.*840A>C	ENSP00000506477.1:n.*840A>C
ENST00000681930.1:n.3196A>C
ENST00000370834.9:c.1171A>C	ENSP00000359871.5:p.Lys391Gln
ENST00000370841.8:c.1072A>C	ENSP00000359878.4:p.Lys358Gln
ENST00000420607.6:c.1084A>C	ENSP00000409612.2:p.Lys362Gln
ENST00000481374.1:n.345A>C
ENST00000525808.5:c.*658A>C	ENSP00000434823.1:n.*658A>C
ENST00000526129.5:c.*856A>C	ENSP00000434092.1:n.*856A>C
ENST00000526196.5:c.*840A>C	ENSP00000431953.1:n.*840A>C
ENST00000528016.1:c.160-7929A>C	ENSP00000434284.1:n.160-7929A>C
ENST00000529059.5:n.981A>C
ENST00000534334.5:c.*813A>C	ENSP00000435584.1:n.*813A>C
ENST00000541113.5:c.964A>C	ENSP00000442324.1:p.Lys322Gln
NM_000016.5:c.1072A>C	NP_000007.1:p.Lys358Gln
NM_001127328.2:c.1084A>C	NP_001120800.1:p.Lys362Gln
NM_001286042.1:c.964A>C	NP_001272971.1:p.Lys322Gln
NM_001286043.1:c.1171A>C	NP_001272972.1:p.Lys391Gln
NM_001286044.1:c.505A>C	NP_001272973.1:p.Lys169Gln
NM_000016.6:c.1072A>C MANE Select	NP_000007.1:p.Lys358Gln
NM_001127328.3:c.1084A>C	NP_001120800.1:p.Lys362Gln
NM_001286042.2:c.964A>C	NP_001272971.1:p.Lys322Gln
NM_001286043.2:c.1171A>C	NP_001272972.1:p.Lys391Gln
NM_001286044.2:c.505A>C	NP_001272973.1:p.Lys169Gln