Canonical Allele Identifier: CA340817850

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226814C>T (hg19) ; chr1:g.75761129C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.953C>T MANE Select	ENSP00000359878.5:p.Ala318Val
ENST00000473018.3:n.3077C>T
ENST00000532207.6:n.1964C>T
ENST00000541113.6:c.857C>T	ENSP00000442324.2:p.Ala286Val
ENST00000679509.1:n.1915C>T
ENST00000679530.1:c.*721C>T	ENSP00000506454.1:n.*721C>T
ENST00000679615.1:n.2968C>T
ENST00000679687.1:c.515C>T	ENSP00000506598.1:p.Ala172Val
ENST00000679704.1:c.*719C>T	ENSP00000505117.1:n.*719C>T
ENST00000679709.1:c.*916C>T	ENSP00000506623.1:n.*916C>T
ENST00000679976.1:c.*537C>T	ENSP00000505565.1:n.*537C>T
ENST00000680166.1:n.4242C>T
ENST00000680315.1:n.836C>T
ENST00000680517.1:c.*341C>T	ENSP00000505803.1:n.*341C>T
ENST00000680582.1:n.1915C>T
ENST00000680613.1:c.*446C>T	ENSP00000506114.1:n.*446C>T
ENST00000680662.1:c.*867C>T	ENSP00000505080.1:n.*867C>T
ENST00000680691.1:c.*616C>T	ENSP00000506487.1:n.*616C>T
ENST00000680694.1:c.*541C>T	ENSP00000505658.1:n.*541C>T
ENST00000680743.1:c.*742C>T	ENSP00000505073.1:n.*742C>T
ENST00000680749.1:c.*238C>T	ENSP00000505122.1:n.*238C>T
ENST00000680798.1:c.*428C>T	ENSP00000505670.1:n.*428C>T
ENST00000680805.1:c.812C>T	ENSP00000505447.1:p.Ala271Val
ENST00000680844.1:c.*737C>T	ENSP00000506541.1:n.*737C>T
ENST00000680948.1:c.*820C>T	ENSP00000505441.1:n.*820C>T
ENST00000680964.1:c.*46C>T	ENSP00000505961.1:n.*46C>T
ENST00000681037.1:c.*2437C>T	ENSP00000506025.1:n.*2437C>T
ENST00000681063.1:c.*222C>T	ENSP00000506616.1:n.*222C>T
ENST00000681209.1:c.*608C>T	ENSP00000505877.1:n.*608C>T
ENST00000681278.1:n.1655C>T
ENST00000681289.1:n.4948C>T
ENST00000681361.1:c.*620C>T	ENSP00000506679.1:n.*620C>T
ENST00000681430.1:c.*46C>T	ENSP00000506301.1:n.*46C>T
ENST00000681446.1:c.*657C>T	ENSP00000506244.1:n.*657C>T
ENST00000681450.1:c.*624C>T	ENSP00000505660.1:n.*624C>T
ENST00000681548.1:c.*539C>T	ENSP00000505275.1:n.*539C>T
ENST00000681616.1:c.*612C>T	ENSP00000505111.1:n.*612C>T
ENST00000681621.1:c.*537C>T	ENSP00000505770.1:n.*537C>T
ENST00000681680.1:n.3048C>T
ENST00000681720.1:c.*408C>T	ENSP00000505438.1:n.*408C>T
ENST00000681730.1:n.1175C>T
ENST00000681790.1:c.695C>T	ENSP00000505130.1:p.Ala232Val
ENST00000681837.1:n.1569C>T
ENST00000681913.1:n.3199C>T
ENST00000681916.1:c.*721C>T	ENSP00000506477.1:n.*721C>T
ENST00000681930.1:n.3077C>T
ENST00000370834.9:c.1052C>T	ENSP00000359871.5:p.Ala351Val
ENST00000370841.8:c.953C>T	ENSP00000359878.4:p.Ala318Val
ENST00000420607.6:c.965C>T	ENSP00000409612.2:p.Ala322Val
ENST00000481374.1:n.226C>T
ENST00000525808.5:c.*539C>T	ENSP00000434823.1:n.*539C>T
ENST00000526129.5:c.*737C>T	ENSP00000434092.1:n.*737C>T
ENST00000526196.5:c.*721C>T	ENSP00000431953.1:n.*721C>T
ENST00000528016.1:c.160-8048C>T	ENSP00000434284.1:n.160-8048C>T
ENST00000529059.5:n.862C>T
ENST00000532207.5:n.683C>T
ENST00000534334.5:c.*694C>T	ENSP00000435584.1:n.*694C>T
ENST00000541113.5:c.845C>T	ENSP00000442324.1:p.Ala282Val
NM_000016.5:c.953C>T	NP_000007.1:p.Ala318Val
NM_001127328.2:c.965C>T	NP_001120800.1:p.Ala322Val
NM_001286042.1:c.845C>T	NP_001272971.1:p.Ala282Val
NM_001286043.1:c.1052C>T	NP_001272972.1:p.Ala351Val
NM_001286044.1:c.386C>T	NP_001272973.1:p.Ala129Val
NM_000016.6:c.953C>T MANE Select	NP_000007.1:p.Ala318Val
NM_001127328.3:c.965C>T	NP_001120800.1:p.Ala322Val
NM_001286042.2:c.845C>T	NP_001272971.1:p.Ala282Val
NM_001286043.2:c.1052C>T	NP_001272972.1:p.Ala351Val
NM_001286044.2:c.386C>T	NP_001272973.1:p.Ala129Val