Canonical Allele Identifier: CA340817841

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226811A>C (hg19) ; chr1:g.75761126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761126A>C , CM000663.2:g.75761126A>C	GRCh38
NC_000001.10:g.76226811A>C , CM000663.1:g.76226811A>C	GRCh37
NC_000001.9:g.75999399A>C	NCBI36
NG_007045.2:g.41769A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.950A>C MANE Select	ENSP00000359878.5:p.Gln317Pro
ENST00000473018.3:n.3074A>C
ENST00000532207.6:n.1961A>C
ENST00000541113.6:c.854A>C	ENSP00000442324.2:p.Gln285Pro
ENST00000679509.1:n.1912A>C
ENST00000679530.1:c.*718A>C	ENSP00000506454.1:n.*718A>C
ENST00000679615.1:n.2965A>C
ENST00000679687.1:c.512A>C	ENSP00000506598.1:p.Gln171Pro
ENST00000679704.1:c.*716A>C	ENSP00000505117.1:n.*716A>C
ENST00000679709.1:c.*913A>C	ENSP00000506623.1:n.*913A>C
ENST00000679976.1:c.*534A>C	ENSP00000505565.1:n.*534A>C
ENST00000680166.1:n.4239A>C
ENST00000680315.1:n.833A>C
ENST00000680517.1:c.*338A>C	ENSP00000505803.1:n.*338A>C
ENST00000680582.1:n.1912A>C
ENST00000680613.1:c.*443A>C	ENSP00000506114.1:n.*443A>C
ENST00000680662.1:c.*864A>C	ENSP00000505080.1:n.*864A>C
ENST00000680691.1:c.*613A>C	ENSP00000506487.1:n.*613A>C
ENST00000680694.1:c.*538A>C	ENSP00000505658.1:n.*538A>C
ENST00000680743.1:c.*739A>C	ENSP00000505073.1:n.*739A>C
ENST00000680749.1:c.*235A>C	ENSP00000505122.1:n.*235A>C
ENST00000680798.1:c.*425A>C	ENSP00000505670.1:n.*425A>C
ENST00000680805.1:c.809A>C	ENSP00000505447.1:p.Gln270Pro
ENST00000680844.1:c.*734A>C	ENSP00000506541.1:n.*734A>C
ENST00000680948.1:c.*817A>C	ENSP00000505441.1:n.*817A>C
ENST00000680964.1:c.*43A>C	ENSP00000505961.1:n.*43A>C
ENST00000681037.1:c.*2434A>C	ENSP00000506025.1:n.*2434A>C
ENST00000681063.1:c.*219A>C	ENSP00000506616.1:n.*219A>C
ENST00000681209.1:c.*605A>C	ENSP00000505877.1:n.*605A>C
ENST00000681278.1:n.1652A>C
ENST00000681289.1:n.4945A>C
ENST00000681361.1:c.*617A>C	ENSP00000506679.1:n.*617A>C
ENST00000681430.1:c.*43A>C	ENSP00000506301.1:n.*43A>C
ENST00000681446.1:c.*654A>C	ENSP00000506244.1:n.*654A>C
ENST00000681450.1:c.*621A>C	ENSP00000505660.1:n.*621A>C
ENST00000681548.1:c.*536A>C	ENSP00000505275.1:n.*536A>C
ENST00000681616.1:c.*609A>C	ENSP00000505111.1:n.*609A>C
ENST00000681621.1:c.*534A>C	ENSP00000505770.1:n.*534A>C
ENST00000681680.1:n.3045A>C
ENST00000681720.1:c.*405A>C	ENSP00000505438.1:n.*405A>C
ENST00000681730.1:n.1172A>C
ENST00000681790.1:c.692A>C	ENSP00000505130.1:p.Gln231Pro
ENST00000681837.1:n.1566A>C
ENST00000681913.1:n.3196A>C
ENST00000681916.1:c.*718A>C	ENSP00000506477.1:n.*718A>C
ENST00000681930.1:n.3074A>C
ENST00000370834.9:c.1049A>C	ENSP00000359871.5:p.Gln350Pro
ENST00000370841.8:c.950A>C	ENSP00000359878.4:p.Gln317Pro
ENST00000420607.6:c.962A>C	ENSP00000409612.2:p.Gln321Pro
ENST00000481374.1:n.223A>C
ENST00000525808.5:c.*536A>C	ENSP00000434823.1:n.*536A>C
ENST00000526129.5:c.*734A>C	ENSP00000434092.1:n.*734A>C
ENST00000526196.5:c.*718A>C	ENSP00000431953.1:n.*718A>C
ENST00000528016.1:c.160-8051A>C	ENSP00000434284.1:n.160-8051A>C
ENST00000529059.5:n.859A>C
ENST00000532207.5:n.680A>C
ENST00000534334.5:c.*691A>C	ENSP00000435584.1:n.*691A>C
ENST00000541113.5:c.842A>C	ENSP00000442324.1:p.Gln281Pro
NM_000016.5:c.950A>C	NP_000007.1:p.Gln317Pro
NM_001127328.2:c.962A>C	NP_001120800.1:p.Gln321Pro
NM_001286042.1:c.842A>C	NP_001272971.1:p.Gln281Pro
NM_001286043.1:c.1049A>C	NP_001272972.1:p.Gln350Pro
NM_001286044.1:c.383A>C	NP_001272973.1:p.Gln128Pro
NM_000016.6:c.950A>C MANE Select	NP_000007.1:p.Gln317Pro
NM_001127328.3:c.962A>C	NP_001120800.1:p.Gln321Pro
NM_001286042.2:c.842A>C	NP_001272971.1:p.Gln281Pro
NM_001286043.2:c.1049A>C	NP_001272972.1:p.Gln350Pro
NM_001286044.2:c.383A>C	NP_001272973.1:p.Gln128Pro