Canonical Allele Identifier: CA340816970

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216155G>C (hg19) ; chr1:g.75750470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750470G>C , CM000663.2:g.75750470G>C	GRCh38
NC_000001.10:g.76216155G>C , CM000663.1:g.76216155G>C	GRCh37
NC_000001.9:g.75988743G>C	NCBI36
NG_007045.2:g.31113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.869G>C MANE Select	ENSP00000359878.5:p.Gly290Ala
ENST00000473018.3:n.2993G>C
ENST00000532207.6:n.1758G>C
ENST00000541113.6:c.849+911G>C	ENSP00000442324.2:n.849+911G>C
ENST00000679509.1:n.1831G>C
ENST00000679530.1:c.*637G>C	ENSP00000506454.1:n.*637G>C
ENST00000679615.1:n.2884G>C
ENST00000679687.1:c.431G>C	ENSP00000506598.1:p.Gly144Ala
ENST00000679704.1:c.*635G>C	ENSP00000505117.1:n.*635G>C
ENST00000679709.1:c.*832G>C	ENSP00000506623.1:n.*832G>C
ENST00000679976.1:c.*453G>C	ENSP00000505565.1:n.*453G>C
ENST00000680166.1:n.4158G>C
ENST00000680315.1:n.752G>C
ENST00000680517.1:c.*257G>C	ENSP00000505803.1:n.*257G>C
ENST00000680582.1:n.1831G>C
ENST00000680613.1:c.*240G>C	ENSP00000506114.1:n.*240G>C
ENST00000680662.1:c.*783G>C	ENSP00000505080.1:n.*783G>C
ENST00000680691.1:c.*532G>C	ENSP00000506487.1:n.*532G>C
ENST00000680694.1:c.*457G>C	ENSP00000505658.1:n.*457G>C
ENST00000680743.1:c.*536G>C	ENSP00000505073.1:n.*536G>C
ENST00000680749.1:c.*154G>C	ENSP00000505122.1:n.*154G>C
ENST00000680798.1:c.*344G>C	ENSP00000505670.1:n.*344G>C
ENST00000680805.1:c.728G>C	ENSP00000505447.1:p.Gly243Ala
ENST00000680844.1:c.*653G>C	ENSP00000506541.1:n.*653G>C
ENST00000680948.1:c.*736G>C	ENSP00000505441.1:n.*736G>C
ENST00000680964.1:c.869G>C	ENSP00000505961.1:p.Gly290Ala
ENST00000681037.1:c.*2353G>C	ENSP00000506025.1:n.*2353G>C
ENST00000681063.1:c.*16G>C	ENSP00000506616.1:n.*16G>C
ENST00000681209.1:c.*524G>C	ENSP00000505877.1:n.*524G>C
ENST00000681278.1:n.1226G>C
ENST00000681289.1:n.4864G>C
ENST00000681361.1:c.*536G>C	ENSP00000506679.1:n.*536G>C
ENST00000681430.1:c.869G>C	ENSP00000506301.1:p.Gly290Ala
ENST00000681446.1:c.*451G>C	ENSP00000506244.1:n.*451G>C
ENST00000681450.1:c.*540G>C	ENSP00000505660.1:n.*540G>C
ENST00000681548.1:c.*455G>C	ENSP00000505275.1:n.*455G>C
ENST00000681616.1:c.*528G>C	ENSP00000505111.1:n.*528G>C
ENST00000681621.1:c.*453G>C	ENSP00000505770.1:n.*453G>C
ENST00000681680.1:n.2964G>C
ENST00000681720.1:c.*324G>C	ENSP00000505438.1:n.*324G>C
ENST00000681730.1:n.1091G>C
ENST00000681790.1:c.611G>C	ENSP00000505130.1:p.Gly204Ala
ENST00000681837.1:n.1485G>C
ENST00000681913.1:n.2993G>C
ENST00000681916.1:c.*637G>C	ENSP00000506477.1:n.*637G>C
ENST00000681930.1:n.2993G>C
ENST00000370834.9:c.968G>C	ENSP00000359871.5:p.Gly323Ala
ENST00000370841.8:c.869G>C	ENSP00000359878.4:p.Gly290Ala
ENST00000420607.6:c.881G>C	ENSP00000409612.2:p.Gly294Ala
ENST00000481374.1:n.20G>C
ENST00000525808.5:c.*455G>C	ENSP00000434823.1:n.*455G>C
ENST00000526129.5:c.*653G>C	ENSP00000434092.1:n.*653G>C
ENST00000526196.5:c.*637G>C	ENSP00000431953.1:n.*637G>C
ENST00000528016.1:c.83G>C	ENSP00000434284.1:p.Gly28Ala
ENST00000529059.5:n.778G>C
ENST00000532207.5:n.599G>C
ENST00000534334.5:c.*453G>C	ENSP00000435584.1:n.*453G>C
ENST00000541113.5:c.761G>C	ENSP00000442324.1:p.Gly254Ala
NM_000016.5:c.869G>C	NP_000007.1:p.Gly290Ala
NM_001127328.2:c.881G>C	NP_001120800.1:p.Gly294Ala
NM_001286042.1:c.761G>C	NP_001272971.1:p.Gly254Ala
NM_001286043.1:c.968G>C	NP_001272972.1:p.Gly323Ala
NM_001286044.1:c.302G>C	NP_001272973.1:p.Gly101Ala
NM_000016.6:c.869G>C MANE Select	NP_000007.1:p.Gly290Ala
NM_001127328.3:c.881G>C	NP_001120800.1:p.Gly294Ala
NM_001286042.2:c.761G>C	NP_001272971.1:p.Gly254Ala
NM_001286043.2:c.968G>C	NP_001272972.1:p.Gly323Ala
NM_001286044.2:c.302G>C	NP_001272973.1:p.Gly101Ala