Canonical Allele Identifier: CA340816554

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215127T>A (hg19) ; chr1:g.75749442T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749442T>A , CM000663.2:g.75749442T>A	GRCh38
NC_000001.10:g.76215127T>A , CM000663.1:g.76215127T>A	GRCh37
NC_000001.9:g.75987715T>A	NCBI36
NG_007045.2:g.30085T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.732T>A MANE Select	ENSP00000359878.5:p.Cys244Ter
ENST00000473018.3:n.2856T>A
ENST00000532207.6:n.1621T>A
ENST00000541113.6:c.732T>A	ENSP00000442324.2:p.Cys244Ter
ENST00000679509.1:n.1694T>A
ENST00000679530.1:c.*500T>A	ENSP00000506454.1:n.*500T>A
ENST00000679615.1:n.2747T>A
ENST00000679687.1:c.294T>A	ENSP00000506598.1:p.Cys98Ter
ENST00000679704.1:c.*498T>A	ENSP00000505117.1:n.*498T>A
ENST00000679709.1:c.*695T>A	ENSP00000506623.1:n.*695T>A
ENST00000679976.1:c.*316T>A	ENSP00000505565.1:n.*316T>A
ENST00000680166.1:n.4021T>A
ENST00000680517.1:c.*120T>A	ENSP00000505803.1:n.*120T>A
ENST00000680582.1:n.1694T>A
ENST00000680613.1:c.*103T>A	ENSP00000506114.1:n.*103T>A
ENST00000680662.1:c.*646T>A	ENSP00000505080.1:n.*646T>A
ENST00000680691.1:c.*395T>A	ENSP00000506487.1:n.*395T>A
ENST00000680694.1:c.*320T>A	ENSP00000505658.1:n.*320T>A
ENST00000680743.1:c.*399T>A	ENSP00000505073.1:n.*399T>A
ENST00000680749.1:c.*17T>A	ENSP00000505122.1:n.*17T>A
ENST00000680798.1:c.*207T>A	ENSP00000505670.1:n.*207T>A
ENST00000680805.1:c.709-1009T>A	ENSP00000505447.1:n.709-1009T>A
ENST00000680844.1:c.*516T>A	ENSP00000506541.1:n.*516T>A
ENST00000680948.1:c.*599T>A	ENSP00000505441.1:n.*599T>A
ENST00000680964.1:c.732T>A	ENSP00000505961.1:p.Cys244Ter
ENST00000681037.1:c.*2216T>A	ENSP00000506025.1:n.*2216T>A
ENST00000681063.1:c.600-1009T>A	ENSP00000506616.1:n.600-1009T>A
ENST00000681209.1:c.*387T>A	ENSP00000505877.1:n.*387T>A
ENST00000681278.1:n.1089T>A
ENST00000681289.1:n.4727T>A
ENST00000681361.1:c.*399T>A	ENSP00000506679.1:n.*399T>A
ENST00000681430.1:c.732T>A	ENSP00000506301.1:p.Cys244Ter
ENST00000681446.1:c.*314T>A	ENSP00000506244.1:n.*314T>A
ENST00000681450.1:c.*403T>A	ENSP00000505660.1:n.*403T>A
ENST00000681548.1:c.*318T>A	ENSP00000505275.1:n.*318T>A
ENST00000681616.1:c.*391T>A	ENSP00000505111.1:n.*391T>A
ENST00000681621.1:c.*316T>A	ENSP00000505770.1:n.*316T>A
ENST00000681680.1:n.2827T>A
ENST00000681720.1:c.*187T>A	ENSP00000505438.1:n.*187T>A
ENST00000681730.1:n.954T>A
ENST00000681790.1:c.474T>A	ENSP00000505130.1:p.Cys158Ter
ENST00000681837.1:n.1348T>A
ENST00000681913.1:n.2856T>A
ENST00000681916.1:c.*500T>A	ENSP00000506477.1:n.*500T>A
ENST00000681930.1:n.2856T>A
ENST00000370834.9:c.831T>A	ENSP00000359871.5:p.Cys277Ter
ENST00000370841.8:c.732T>A	ENSP00000359878.4:p.Cys244Ter
ENST00000420607.6:c.744T>A	ENSP00000409612.2:p.Cys248Ter
ENST00000525808.5:c.*318T>A	ENSP00000434823.1:n.*318T>A
ENST00000526129.5:c.*516T>A	ENSP00000434092.1:n.*516T>A
ENST00000526196.5:c.*500T>A	ENSP00000431953.1:n.*500T>A
ENST00000526930.1:n.505T>A
ENST00000529059.5:n.641T>A
ENST00000530953.6:c.*229T>A	ENSP00000431372.1:n.*229T>A
ENST00000532207.5:n.462T>A
ENST00000532509.5:c.*496T>A	ENSP00000432522.1:n.*496T>A
ENST00000534334.5:c.*316T>A	ENSP00000435584.1:n.*316T>A
ENST00000541113.5:c.624T>A	ENSP00000442324.1:p.Cys208Ter
NM_000016.5:c.732T>A	NP_000007.1:p.Cys244Ter
NM_001127328.2:c.744T>A	NP_001120800.1:p.Cys248Ter
NM_001286042.1:c.624T>A	NP_001272971.1:p.Cys208Ter
NM_001286043.1:c.831T>A	NP_001272972.1:p.Cys277Ter
NM_001286044.1:c.165T>A	NP_001272973.1:p.Cys55Ter
NM_000016.6:c.732T>A MANE Select	NP_000007.1:p.Cys244Ter
NM_001127328.3:c.744T>A	NP_001120800.1:p.Cys248Ter
NM_001286042.2:c.624T>A	NP_001272971.1:p.Cys208Ter
NM_001286043.2:c.831T>A	NP_001272972.1:p.Cys277Ter
NM_001286044.2:c.165T>A	NP_001272973.1:p.Cys55Ter