Canonical Allele Identifier: CA340817839

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226810C>A (hg19) ; chr1:g.75761125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761125C>A , CM000663.2:g.75761125C>A	GRCh38
NC_000001.10:g.76226810C>A , CM000663.1:g.76226810C>A	GRCh37
NC_000001.9:g.75999398C>A	NCBI36
NG_007045.2:g.41768C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.949C>A MANE Select	ENSP00000359878.5:p.Gln317Lys
ENST00000473018.3:n.3073C>A
ENST00000532207.6:n.1960C>A
ENST00000541113.6:c.853C>A	ENSP00000442324.2:p.Gln285Lys
ENST00000679509.1:n.1911C>A
ENST00000679530.1:c.*717C>A	ENSP00000506454.1:n.*717C>A
ENST00000679615.1:n.2964C>A
ENST00000679687.1:c.511C>A	ENSP00000506598.1:p.Gln171Lys
ENST00000679704.1:c.*715C>A	ENSP00000505117.1:n.*715C>A
ENST00000679709.1:c.*912C>A	ENSP00000506623.1:n.*912C>A
ENST00000679976.1:c.*533C>A	ENSP00000505565.1:n.*533C>A
ENST00000680166.1:n.4238C>A
ENST00000680315.1:n.832C>A
ENST00000680517.1:c.*337C>A	ENSP00000505803.1:n.*337C>A
ENST00000680582.1:n.1911C>A
ENST00000680613.1:c.*442C>A	ENSP00000506114.1:n.*442C>A
ENST00000680662.1:c.*863C>A	ENSP00000505080.1:n.*863C>A
ENST00000680691.1:c.*612C>A	ENSP00000506487.1:n.*612C>A
ENST00000680694.1:c.*537C>A	ENSP00000505658.1:n.*537C>A
ENST00000680743.1:c.*738C>A	ENSP00000505073.1:n.*738C>A
ENST00000680749.1:c.*234C>A	ENSP00000505122.1:n.*234C>A
ENST00000680798.1:c.*424C>A	ENSP00000505670.1:n.*424C>A
ENST00000680805.1:c.808C>A	ENSP00000505447.1:p.Gln270Lys
ENST00000680844.1:c.*733C>A	ENSP00000506541.1:n.*733C>A
ENST00000680948.1:c.*816C>A	ENSP00000505441.1:n.*816C>A
ENST00000680964.1:c.*42C>A	ENSP00000505961.1:n.*42C>A
ENST00000681037.1:c.*2433C>A	ENSP00000506025.1:n.*2433C>A
ENST00000681063.1:c.*218C>A	ENSP00000506616.1:n.*218C>A
ENST00000681209.1:c.*604C>A	ENSP00000505877.1:n.*604C>A
ENST00000681278.1:n.1651C>A
ENST00000681289.1:n.4944C>A
ENST00000681361.1:c.*616C>A	ENSP00000506679.1:n.*616C>A
ENST00000681430.1:c.*42C>A	ENSP00000506301.1:n.*42C>A
ENST00000681446.1:c.*653C>A	ENSP00000506244.1:n.*653C>A
ENST00000681450.1:c.*620C>A	ENSP00000505660.1:n.*620C>A
ENST00000681548.1:c.*535C>A	ENSP00000505275.1:n.*535C>A
ENST00000681616.1:c.*608C>A	ENSP00000505111.1:n.*608C>A
ENST00000681621.1:c.*533C>A	ENSP00000505770.1:n.*533C>A
ENST00000681680.1:n.3044C>A
ENST00000681720.1:c.*404C>A	ENSP00000505438.1:n.*404C>A
ENST00000681730.1:n.1171C>A
ENST00000681790.1:c.691C>A	ENSP00000505130.1:p.Gln231Lys
ENST00000681837.1:n.1565C>A
ENST00000681913.1:n.3195C>A
ENST00000681916.1:c.*717C>A	ENSP00000506477.1:n.*717C>A
ENST00000681930.1:n.3073C>A
ENST00000370834.9:c.1048C>A	ENSP00000359871.5:p.Gln350Lys
ENST00000370841.8:c.949C>A	ENSP00000359878.4:p.Gln317Lys
ENST00000420607.6:c.961C>A	ENSP00000409612.2:p.Gln321Lys
ENST00000481374.1:n.222C>A
ENST00000525808.5:c.*535C>A	ENSP00000434823.1:n.*535C>A
ENST00000526129.5:c.*733C>A	ENSP00000434092.1:n.*733C>A
ENST00000526196.5:c.*717C>A	ENSP00000431953.1:n.*717C>A
ENST00000528016.1:c.160-8052C>A	ENSP00000434284.1:n.160-8052C>A
ENST00000529059.5:n.858C>A
ENST00000532207.5:n.679C>A
ENST00000534334.5:c.*690C>A	ENSP00000435584.1:n.*690C>A
ENST00000541113.5:c.841C>A	ENSP00000442324.1:p.Gln281Lys
NM_000016.5:c.949C>A	NP_000007.1:p.Gln317Lys
NM_001127328.2:c.961C>A	NP_001120800.1:p.Gln321Lys
NM_001286042.1:c.841C>A	NP_001272971.1:p.Gln281Lys
NM_001286043.1:c.1048C>A	NP_001272972.1:p.Gln350Lys
NM_001286044.1:c.382C>A	NP_001272973.1:p.Gln128Lys
NM_000016.6:c.949C>A MANE Select	NP_000007.1:p.Gln317Lys
NM_001127328.3:c.961C>A	NP_001120800.1:p.Gln321Lys
NM_001286042.2:c.841C>A	NP_001272971.1:p.Gln281Lys
NM_001286043.2:c.1048C>A	NP_001272972.1:p.Gln350Lys
NM_001286044.2:c.382C>A	NP_001272973.1:p.Gln128Lys