Canonical Allele Identifier: CA340817887

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226831G>C (hg19) ; chr1:g.75761146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761146G>C , CM000663.2:g.75761146G>C	GRCh38
NC_000001.10:g.76226831G>C , CM000663.1:g.76226831G>C	GRCh37
NC_000001.9:g.75999419G>C	NCBI36
NG_007045.2:g.41789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.970G>C MANE Select	ENSP00000359878.5:p.Ala324Pro
ENST00000473018.3:n.3094G>C
ENST00000532207.6:n.1981G>C
ENST00000541113.6:c.874G>C	ENSP00000442324.2:p.Ala292Pro
ENST00000679509.1:n.1932G>C
ENST00000679530.1:c.*738G>C	ENSP00000506454.1:n.*738G>C
ENST00000679615.1:n.2985G>C
ENST00000679687.1:c.532G>C	ENSP00000506598.1:p.Ala178Pro
ENST00000679704.1:c.*736G>C	ENSP00000505117.1:n.*736G>C
ENST00000679709.1:c.*933G>C	ENSP00000506623.1:n.*933G>C
ENST00000679976.1:c.*554G>C	ENSP00000505565.1:n.*554G>C
ENST00000680166.1:n.4259G>C
ENST00000680315.1:n.853G>C
ENST00000680517.1:c.*358G>C	ENSP00000505803.1:n.*358G>C
ENST00000680582.1:n.1932G>C
ENST00000680613.1:c.*463G>C	ENSP00000506114.1:n.*463G>C
ENST00000680662.1:c.*884G>C	ENSP00000505080.1:n.*884G>C
ENST00000680691.1:c.*633G>C	ENSP00000506487.1:n.*633G>C
ENST00000680694.1:c.*558G>C	ENSP00000505658.1:n.*558G>C
ENST00000680743.1:c.*759G>C	ENSP00000505073.1:n.*759G>C
ENST00000680749.1:c.*255G>C	ENSP00000505122.1:n.*255G>C
ENST00000680798.1:c.*445G>C	ENSP00000505670.1:n.*445G>C
ENST00000680805.1:c.829G>C	ENSP00000505447.1:p.Ala277Pro
ENST00000680844.1:c.*754G>C	ENSP00000506541.1:n.*754G>C
ENST00000680948.1:c.*837G>C	ENSP00000505441.1:n.*837G>C
ENST00000680964.1:c.*63G>C	ENSP00000505961.1:n.*63G>C
ENST00000681037.1:c.*2454G>C	ENSP00000506025.1:n.*2454G>C
ENST00000681063.1:c.*239G>C	ENSP00000506616.1:n.*239G>C
ENST00000681209.1:c.*625G>C	ENSP00000505877.1:n.*625G>C
ENST00000681278.1:n.1672G>C
ENST00000681289.1:n.4965G>C
ENST00000681361.1:c.*637G>C	ENSP00000506679.1:n.*637G>C
ENST00000681430.1:c.*63G>C	ENSP00000506301.1:n.*63G>C
ENST00000681446.1:c.*674G>C	ENSP00000506244.1:n.*674G>C
ENST00000681450.1:c.*641G>C	ENSP00000505660.1:n.*641G>C
ENST00000681548.1:c.*556G>C	ENSP00000505275.1:n.*556G>C
ENST00000681616.1:c.*629G>C	ENSP00000505111.1:n.*629G>C
ENST00000681621.1:c.*554G>C	ENSP00000505770.1:n.*554G>C
ENST00000681680.1:n.3065G>C
ENST00000681720.1:c.*425G>C	ENSP00000505438.1:n.*425G>C
ENST00000681730.1:n.1192G>C
ENST00000681790.1:c.712G>C	ENSP00000505130.1:p.Ala238Pro
ENST00000681837.1:n.1586G>C
ENST00000681913.1:n.3216G>C
ENST00000681916.1:c.*738G>C	ENSP00000506477.1:n.*738G>C
ENST00000681930.1:n.3094G>C
ENST00000370834.9:c.1069G>C	ENSP00000359871.5:p.Ala357Pro
ENST00000370841.8:c.970G>C	ENSP00000359878.4:p.Ala324Pro
ENST00000420607.6:c.982G>C	ENSP00000409612.2:p.Ala328Pro
ENST00000481374.1:n.243G>C
ENST00000525808.5:c.*556G>C	ENSP00000434823.1:n.*556G>C
ENST00000526129.5:c.*754G>C	ENSP00000434092.1:n.*754G>C
ENST00000526196.5:c.*738G>C	ENSP00000431953.1:n.*738G>C
ENST00000528016.1:c.160-8031G>C	ENSP00000434284.1:n.160-8031G>C
ENST00000529059.5:n.879G>C
ENST00000532207.5:n.700G>C
ENST00000534334.5:c.*711G>C	ENSP00000435584.1:n.*711G>C
ENST00000541113.5:c.862G>C	ENSP00000442324.1:p.Ala288Pro
NM_000016.5:c.970G>C	NP_000007.1:p.Ala324Pro
NM_001127328.2:c.982G>C	NP_001120800.1:p.Ala328Pro
NM_001286042.1:c.862G>C	NP_001272971.1:p.Ala288Pro
NM_001286043.1:c.1069G>C	NP_001272972.1:p.Ala357Pro
NM_001286044.1:c.403G>C	NP_001272973.1:p.Ala135Pro
NM_000016.6:c.970G>C MANE Select	NP_000007.1:p.Ala324Pro
NM_001127328.3:c.982G>C	NP_001120800.1:p.Ala328Pro
NM_001286042.2:c.862G>C	NP_001272971.1:p.Ala288Pro
NM_001286043.2:c.1069G>C	NP_001272972.1:p.Ala357Pro
NM_001286044.2:c.403G>C	NP_001272973.1:p.Ala135Pro