Canonical Allele Identifier: CA340818128

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226942G>C (hg19) ; chr1:g.75761257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761257G>C , CM000663.2:g.75761257G>C	GRCh38
NC_000001.10:g.76226942G>C , CM000663.1:g.76226942G>C	GRCh37
NC_000001.9:g.75999530G>C	NCBI36
NG_007045.2:g.41900G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1081G>C MANE Select	ENSP00000359878.5:p.Ala361Pro
ENST00000473018.3:n.3205G>C
ENST00000532207.6:n.2092G>C
ENST00000541113.6:c.985G>C	ENSP00000442324.2:p.Ala329Pro
ENST00000679509.1:n.2043G>C
ENST00000679530.1:c.*849G>C	ENSP00000506454.1:n.*849G>C
ENST00000679615.1:n.3096G>C
ENST00000679687.1:c.643G>C	ENSP00000506598.1:p.Ala215Pro
ENST00000679704.1:c.*847G>C	ENSP00000505117.1:n.*847G>C
ENST00000679709.1:c.*1044G>C	ENSP00000506623.1:n.*1044G>C
ENST00000679976.1:c.*665G>C	ENSP00000505565.1:n.*665G>C
ENST00000680166.1:n.4370G>C
ENST00000680315.1:n.964G>C
ENST00000680517.1:c.*469G>C	ENSP00000505803.1:n.*469G>C
ENST00000680582.1:n.2043G>C
ENST00000680613.1:c.*574G>C	ENSP00000506114.1:n.*574G>C
ENST00000680662.1:c.*995G>C	ENSP00000505080.1:n.*995G>C
ENST00000680691.1:c.*744G>C	ENSP00000506487.1:n.*744G>C
ENST00000680694.1:c.*669G>C	ENSP00000505658.1:n.*669G>C
ENST00000680743.1:c.*870G>C	ENSP00000505073.1:n.*870G>C
ENST00000680749.1:c.*366G>C	ENSP00000505122.1:n.*366G>C
ENST00000680798.1:c.*556G>C	ENSP00000505670.1:n.*556G>C
ENST00000680805.1:c.940G>C	ENSP00000505447.1:p.Ala314Pro
ENST00000680844.1:c.*865G>C	ENSP00000506541.1:n.*865G>C
ENST00000680948.1:c.*948G>C	ENSP00000505441.1:n.*948G>C
ENST00000680964.1:c.*174G>C	ENSP00000505961.1:n.*174G>C
ENST00000681037.1:c.*2565G>C	ENSP00000506025.1:n.*2565G>C
ENST00000681063.1:c.*350G>C	ENSP00000506616.1:n.*350G>C
ENST00000681209.1:c.*736G>C	ENSP00000505877.1:n.*736G>C
ENST00000681278.1:n.1783G>C
ENST00000681289.1:n.5076G>C
ENST00000681361.1:c.*748G>C	ENSP00000506679.1:n.*748G>C
ENST00000681430.1:c.*174G>C	ENSP00000506301.1:n.*174G>C
ENST00000681446.1:c.*785G>C	ENSP00000506244.1:n.*785G>C
ENST00000681450.1:c.*752G>C	ENSP00000505660.1:n.*752G>C
ENST00000681548.1:c.*667G>C	ENSP00000505275.1:n.*667G>C
ENST00000681616.1:c.*740G>C	ENSP00000505111.1:n.*740G>C
ENST00000681621.1:c.*665G>C	ENSP00000505770.1:n.*665G>C
ENST00000681680.1:n.3176G>C
ENST00000681720.1:c.*536G>C	ENSP00000505438.1:n.*536G>C
ENST00000681730.1:n.1303G>C
ENST00000681790.1:c.823G>C	ENSP00000505130.1:p.Ala275Pro
ENST00000681837.1:n.1697G>C
ENST00000681913.1:n.3327G>C
ENST00000681916.1:c.*849G>C	ENSP00000506477.1:n.*849G>C
ENST00000681930.1:n.3205G>C
ENST00000370834.9:c.1180G>C	ENSP00000359871.5:p.Ala394Pro
ENST00000370841.8:c.1081G>C	ENSP00000359878.4:p.Ala361Pro
ENST00000420607.6:c.1093G>C	ENSP00000409612.2:p.Ala365Pro
ENST00000481374.1:n.354G>C
ENST00000525808.5:c.*667G>C	ENSP00000434823.1:n.*667G>C
ENST00000526129.5:c.*865G>C	ENSP00000434092.1:n.*865G>C
ENST00000526196.5:c.*849G>C	ENSP00000431953.1:n.*849G>C
ENST00000528016.1:c.160-7920G>C	ENSP00000434284.1:n.160-7920G>C
ENST00000529059.5:n.990G>C
ENST00000541113.5:c.973G>C	ENSP00000442324.1:p.Ala325Pro
NM_000016.5:c.1081G>C	NP_000007.1:p.Ala361Pro
NM_001127328.2:c.1093G>C	NP_001120800.1:p.Ala365Pro
NM_001286042.1:c.973G>C	NP_001272971.1:p.Ala325Pro
NM_001286043.1:c.1180G>C	NP_001272972.1:p.Ala394Pro
NM_001286044.1:c.514G>C	NP_001272973.1:p.Ala172Pro
NM_000016.6:c.1081G>C MANE Select	NP_000007.1:p.Ala361Pro
NM_001127328.3:c.1093G>C	NP_001120800.1:p.Ala365Pro
NM_001286042.2:c.973G>C	NP_001272971.1:p.Ala325Pro
NM_001286043.2:c.1180G>C	NP_001272972.1:p.Ala394Pro
NM_001286044.2:c.514G>C	NP_001272973.1:p.Ala172Pro