Canonical Allele Identifier: CA340815943

Gene: ACADM

Linked Data

• COSMIC: COSM912147 ; COSM6224528
• MyVariant Identifiers: chr1:g.76211529C>T (hg19) ; chr1:g.75745844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745844C>T , CM000663.2:g.75745844C>T	GRCh38
NC_000001.10:g.76211529C>T , CM000663.1:g.76211529C>T	GRCh37
NC_000001.9:g.75984117C>T	NCBI36
NG_007045.2:g.26487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.638C>T MANE Select	ENSP00000359878.5:p.Ala213Val
ENST00000473018.3:n.2762C>T
ENST00000532207.6:n.1527C>T
ENST00000541113.6:c.638C>T	ENSP00000442324.2:p.Ala213Val
ENST00000679509.1:n.1600C>T
ENST00000679530.1:c.*406C>T	ENSP00000506454.1:n.*406C>T
ENST00000679615.1:n.2724-3575C>T
ENST00000679687.1:c.200C>T	ENSP00000506598.1:p.Ala67Val
ENST00000679704.1:c.*404C>T	ENSP00000505117.1:n.*404C>T
ENST00000679709.1:c.*601C>T	ENSP00000506623.1:n.*601C>T
ENST00000679976.1:c.*222C>T	ENSP00000505565.1:n.*222C>T
ENST00000680166.1:n.3927C>T
ENST00000680517.1:c.*97-3575C>T	ENSP00000505803.1:n.*97-3575C>T
ENST00000680582.1:n.1600C>T
ENST00000680613.1:c.*9C>T	ENSP00000506114.1:n.*9C>T
ENST00000680662.1:c.*552C>T	ENSP00000505080.1:n.*552C>T
ENST00000680691.1:c.*301C>T	ENSP00000506487.1:n.*301C>T
ENST00000680694.1:c.*226C>T	ENSP00000505658.1:n.*226C>T
ENST00000680743.1:c.*305C>T	ENSP00000505073.1:n.*305C>T
ENST00000680749.1:c.600-3575C>T	ENSP00000505122.1:n.600-3575C>T
ENST00000680798.1:c.*184-3575C>T	ENSP00000505670.1:n.*184-3575C>T
ENST00000680805.1:c.638C>T	ENSP00000505447.1:p.Ala213Val
ENST00000680844.1:c.*422C>T	ENSP00000506541.1:n.*422C>T
ENST00000680948.1:c.*505C>T	ENSP00000505441.1:n.*505C>T
ENST00000680964.1:c.638C>T	ENSP00000505961.1:p.Ala213Val
ENST00000681037.1:c.*2122C>T	ENSP00000506025.1:n.*2122C>T
ENST00000681063.1:c.600-4607C>T	ENSP00000506616.1:n.600-4607C>T
ENST00000681209.1:c.*364-3575C>T	ENSP00000505877.1:n.*364-3575C>T
ENST00000681278.1:n.995C>T
ENST00000681289.1:n.4633C>T
ENST00000681361.1:c.*305C>T	ENSP00000506679.1:n.*305C>T
ENST00000681430.1:c.638C>T	ENSP00000506301.1:p.Ala213Val
ENST00000681446.1:c.*220C>T	ENSP00000506244.1:n.*220C>T
ENST00000681450.1:c.*309C>T	ENSP00000505660.1:n.*309C>T
ENST00000681548.1:c.*224C>T	ENSP00000505275.1:n.*224C>T
ENST00000681616.1:c.*368-3575C>T	ENSP00000505111.1:n.*368-3575C>T
ENST00000681621.1:c.*222C>T	ENSP00000505770.1:n.*222C>T
ENST00000681680.1:n.2733C>T
ENST00000681720.1:c.*93C>T	ENSP00000505438.1:n.*93C>T
ENST00000681730.1:n.860C>T
ENST00000681790.1:c.380C>T	ENSP00000505130.1:p.Ala127Val
ENST00000681837.1:n.1254C>T
ENST00000681913.1:n.2762C>T
ENST00000681916.1:c.*406C>T	ENSP00000506477.1:n.*406C>T
ENST00000681930.1:n.2762C>T
ENST00000370834.9:c.737C>T	ENSP00000359871.5:p.Ala246Val
ENST00000370841.8:c.638C>T	ENSP00000359878.4:p.Ala213Val
ENST00000420607.6:c.650C>T	ENSP00000409612.2:p.Ala217Val
ENST00000525808.5:c.*224C>T	ENSP00000434823.1:n.*224C>T
ENST00000526129.5:c.*422C>T	ENSP00000434092.1:n.*422C>T
ENST00000526196.5:c.*406C>T	ENSP00000431953.1:n.*406C>T
ENST00000526930.1:n.411C>T
ENST00000529059.5:n.547C>T
ENST00000530953.6:c.*135C>T	ENSP00000431372.1:n.*135C>T
ENST00000532207.5:n.368C>T
ENST00000532509.5:c.*402C>T	ENSP00000432522.1:n.*402C>T
ENST00000534334.5:c.*222C>T	ENSP00000435584.1:n.*222C>T
ENST00000541113.5:c.530C>T	ENSP00000442324.1:p.Ala177Val
NM_000016.5:c.638C>T	NP_000007.1:p.Ala213Val
NM_001127328.2:c.650C>T	NP_001120800.1:p.Ala217Val
NM_001286042.1:c.530C>T	NP_001272971.1:p.Ala177Val
NM_001286043.1:c.737C>T	NP_001272972.1:p.Ala246Val
NM_001286044.1:c.71C>T	NP_001272973.1:p.Ala24Val
NM_000016.6:c.638C>T MANE Select	NP_000007.1:p.Ala213Val
NM_001127328.3:c.650C>T	NP_001120800.1:p.Ala217Val
NM_001286042.2:c.530C>T	NP_001272971.1:p.Ala177Val
NM_001286043.2:c.737C>T	NP_001272972.1:p.Ala246Val
NM_001286044.2:c.71C>T	NP_001272973.1:p.Ala24Val