Canonical Allele Identifier: CA340816725

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215198C>T (hg19) ; chr1:g.75749513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749513C>T , CM000663.2:g.75749513C>T	GRCh38
NC_000001.10:g.76215198C>T , CM000663.1:g.76215198C>T	GRCh37
NC_000001.9:g.75987786C>T	NCBI36
NG_007045.2:g.30156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.803C>T MANE Select	ENSP00000359878.5:p.Ala268Val
ENST00000473018.3:n.2927C>T
ENST00000532207.6:n.1692C>T
ENST00000541113.6:c.803C>T	ENSP00000442324.2:p.Ala268Val
ENST00000679509.1:n.1765C>T
ENST00000679530.1:c.*571C>T	ENSP00000506454.1:n.*571C>T
ENST00000679615.1:n.2818C>T
ENST00000679687.1:c.365C>T	ENSP00000506598.1:p.Ala122Val
ENST00000679704.1:c.*569C>T	ENSP00000505117.1:n.*569C>T
ENST00000679709.1:c.*766C>T	ENSP00000506623.1:n.*766C>T
ENST00000679976.1:c.*387C>T	ENSP00000505565.1:n.*387C>T
ENST00000680166.1:n.4092C>T
ENST00000680517.1:c.*191C>T	ENSP00000505803.1:n.*191C>T
ENST00000680582.1:n.1765C>T
ENST00000680613.1:c.*174C>T	ENSP00000506114.1:n.*174C>T
ENST00000680662.1:c.*717C>T	ENSP00000505080.1:n.*717C>T
ENST00000680691.1:c.*466C>T	ENSP00000506487.1:n.*466C>T
ENST00000680694.1:c.*391C>T	ENSP00000505658.1:n.*391C>T
ENST00000680743.1:c.*470C>T	ENSP00000505073.1:n.*470C>T
ENST00000680749.1:c.*88C>T	ENSP00000505122.1:n.*88C>T
ENST00000680798.1:c.*278C>T	ENSP00000505670.1:n.*278C>T
ENST00000680805.1:c.709-938C>T	ENSP00000505447.1:n.709-938C>T
ENST00000680844.1:c.*587C>T	ENSP00000506541.1:n.*587C>T
ENST00000680948.1:c.*670C>T	ENSP00000505441.1:n.*670C>T
ENST00000680964.1:c.803C>T	ENSP00000505961.1:p.Ala268Val
ENST00000681037.1:c.*2287C>T	ENSP00000506025.1:n.*2287C>T
ENST00000681063.1:c.600-938C>T	ENSP00000506616.1:n.600-938C>T
ENST00000681209.1:c.*458C>T	ENSP00000505877.1:n.*458C>T
ENST00000681278.1:n.1160C>T
ENST00000681289.1:n.4798C>T
ENST00000681361.1:c.*470C>T	ENSP00000506679.1:n.*470C>T
ENST00000681430.1:c.803C>T	ENSP00000506301.1:p.Ala268Val
ENST00000681446.1:c.*385C>T	ENSP00000506244.1:n.*385C>T
ENST00000681450.1:c.*474C>T	ENSP00000505660.1:n.*474C>T
ENST00000681548.1:c.*389C>T	ENSP00000505275.1:n.*389C>T
ENST00000681616.1:c.*462C>T	ENSP00000505111.1:n.*462C>T
ENST00000681621.1:c.*387C>T	ENSP00000505770.1:n.*387C>T
ENST00000681680.1:n.2898C>T
ENST00000681720.1:c.*258C>T	ENSP00000505438.1:n.*258C>T
ENST00000681730.1:n.1025C>T
ENST00000681790.1:c.545C>T	ENSP00000505130.1:p.Ala182Val
ENST00000681837.1:n.1419C>T
ENST00000681913.1:n.2927C>T
ENST00000681916.1:c.*571C>T	ENSP00000506477.1:n.*571C>T
ENST00000681930.1:n.2927C>T
ENST00000370834.9:c.902C>T	ENSP00000359871.5:p.Ala301Val
ENST00000370841.8:c.803C>T	ENSP00000359878.4:p.Ala268Val
ENST00000420607.6:c.815C>T	ENSP00000409612.2:p.Ala272Val
ENST00000525808.5:c.*389C>T	ENSP00000434823.1:n.*389C>T
ENST00000526129.5:c.*587C>T	ENSP00000434092.1:n.*587C>T
ENST00000526196.5:c.*571C>T	ENSP00000431953.1:n.*571C>T
ENST00000526930.1:n.576C>T
ENST00000528016.1:c.17C>T	ENSP00000434284.1:p.Ala6Val
ENST00000529059.5:n.712C>T
ENST00000530953.6:c.*300C>T	ENSP00000431372.1:n.*300C>T
ENST00000532207.5:n.533C>T
ENST00000532509.5:c.*567C>T	ENSP00000432522.1:n.*567C>T
ENST00000534334.5:c.*387C>T	ENSP00000435584.1:n.*387C>T
ENST00000541113.5:c.695C>T	ENSP00000442324.1:p.Ala232Val
NM_000016.5:c.803C>T	NP_000007.1:p.Ala268Val
NM_001127328.2:c.815C>T	NP_001120800.1:p.Ala272Val
NM_001286042.1:c.695C>T	NP_001272971.1:p.Ala232Val
NM_001286043.1:c.902C>T	NP_001272972.1:p.Ala301Val
NM_001286044.1:c.236C>T	NP_001272973.1:p.Ala79Val
NM_000016.6:c.803C>T MANE Select	NP_000007.1:p.Ala268Val
NM_001127328.3:c.815C>T	NP_001120800.1:p.Ala272Val
NM_001286042.2:c.695C>T	NP_001272971.1:p.Ala232Val
NM_001286043.2:c.902C>T	NP_001272972.1:p.Ala301Val
NM_001286044.2:c.236C>T	NP_001272973.1:p.Ala79Val