Canonical Allele Identifier: CA340817849

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761129-C-A
• MyVariant Identifiers: chr1:g.76226814C>A (hg19) ; chr1:g.75761129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761129C>A , CM000663.2:g.75761129C>A	GRCh38
NC_000001.10:g.76226814C>A , CM000663.1:g.76226814C>A	GRCh37
NC_000001.9:g.75999402C>A	NCBI36
NG_007045.2:g.41772C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.953C>A MANE Select	ENSP00000359878.5:p.Ala318Glu
ENST00000473018.3:n.3077C>A
ENST00000532207.6:n.1964C>A
ENST00000541113.6:c.857C>A	ENSP00000442324.2:p.Ala286Glu
ENST00000679509.1:n.1915C>A
ENST00000679530.1:c.*721C>A	ENSP00000506454.1:n.*721C>A
ENST00000679615.1:n.2968C>A
ENST00000679687.1:c.515C>A	ENSP00000506598.1:p.Ala172Glu
ENST00000679704.1:c.*719C>A	ENSP00000505117.1:n.*719C>A
ENST00000679709.1:c.*916C>A	ENSP00000506623.1:n.*916C>A
ENST00000679976.1:c.*537C>A	ENSP00000505565.1:n.*537C>A
ENST00000680166.1:n.4242C>A
ENST00000680315.1:n.836C>A
ENST00000680517.1:c.*341C>A	ENSP00000505803.1:n.*341C>A
ENST00000680582.1:n.1915C>A
ENST00000680613.1:c.*446C>A	ENSP00000506114.1:n.*446C>A
ENST00000680662.1:c.*867C>A	ENSP00000505080.1:n.*867C>A
ENST00000680691.1:c.*616C>A	ENSP00000506487.1:n.*616C>A
ENST00000680694.1:c.*541C>A	ENSP00000505658.1:n.*541C>A
ENST00000680743.1:c.*742C>A	ENSP00000505073.1:n.*742C>A
ENST00000680749.1:c.*238C>A	ENSP00000505122.1:n.*238C>A
ENST00000680798.1:c.*428C>A	ENSP00000505670.1:n.*428C>A
ENST00000680805.1:c.812C>A	ENSP00000505447.1:p.Ala271Glu
ENST00000680844.1:c.*737C>A	ENSP00000506541.1:n.*737C>A
ENST00000680948.1:c.*820C>A	ENSP00000505441.1:n.*820C>A
ENST00000680964.1:c.*46C>A	ENSP00000505961.1:n.*46C>A
ENST00000681037.1:c.*2437C>A	ENSP00000506025.1:n.*2437C>A
ENST00000681063.1:c.*222C>A	ENSP00000506616.1:n.*222C>A
ENST00000681209.1:c.*608C>A	ENSP00000505877.1:n.*608C>A
ENST00000681278.1:n.1655C>A
ENST00000681289.1:n.4948C>A
ENST00000681361.1:c.*620C>A	ENSP00000506679.1:n.*620C>A
ENST00000681430.1:c.*46C>A	ENSP00000506301.1:n.*46C>A
ENST00000681446.1:c.*657C>A	ENSP00000506244.1:n.*657C>A
ENST00000681450.1:c.*624C>A	ENSP00000505660.1:n.*624C>A
ENST00000681548.1:c.*539C>A	ENSP00000505275.1:n.*539C>A
ENST00000681616.1:c.*612C>A	ENSP00000505111.1:n.*612C>A
ENST00000681621.1:c.*537C>A	ENSP00000505770.1:n.*537C>A
ENST00000681680.1:n.3048C>A
ENST00000681720.1:c.*408C>A	ENSP00000505438.1:n.*408C>A
ENST00000681730.1:n.1175C>A
ENST00000681790.1:c.695C>A	ENSP00000505130.1:p.Ala232Glu
ENST00000681837.1:n.1569C>A
ENST00000681913.1:n.3199C>A
ENST00000681916.1:c.*721C>A	ENSP00000506477.1:n.*721C>A
ENST00000681930.1:n.3077C>A
ENST00000370834.9:c.1052C>A	ENSP00000359871.5:p.Ala351Glu
ENST00000370841.8:c.953C>A	ENSP00000359878.4:p.Ala318Glu
ENST00000420607.6:c.965C>A	ENSP00000409612.2:p.Ala322Glu
ENST00000481374.1:n.226C>A
ENST00000525808.5:c.*539C>A	ENSP00000434823.1:n.*539C>A
ENST00000526129.5:c.*737C>A	ENSP00000434092.1:n.*737C>A
ENST00000526196.5:c.*721C>A	ENSP00000431953.1:n.*721C>A
ENST00000528016.1:c.160-8048C>A	ENSP00000434284.1:n.160-8048C>A
ENST00000529059.5:n.862C>A
ENST00000532207.5:n.683C>A
ENST00000534334.5:c.*694C>A	ENSP00000435584.1:n.*694C>A
ENST00000541113.5:c.845C>A	ENSP00000442324.1:p.Ala282Glu
NM_000016.5:c.953C>A	NP_000007.1:p.Ala318Glu
NM_001127328.2:c.965C>A	NP_001120800.1:p.Ala322Glu
NM_001286042.1:c.845C>A	NP_001272971.1:p.Ala282Glu
NM_001286043.1:c.1052C>A	NP_001272972.1:p.Ala351Glu
NM_001286044.1:c.386C>A	NP_001272973.1:p.Ala129Glu
NM_000016.6:c.953C>A MANE Select	NP_000007.1:p.Ala318Glu
NM_001127328.3:c.965C>A	NP_001120800.1:p.Ala322Glu
NM_001286042.2:c.845C>A	NP_001272971.1:p.Ala282Glu
NM_001286043.2:c.1052C>A	NP_001272972.1:p.Ala351Glu
NM_001286044.2:c.386C>A	NP_001272973.1:p.Ala129Glu