Canonical Allele Identifier: CA340815385

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205768G>T (hg19) ; chr1:g.75740083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740083G>T , CM000663.2:g.75740083G>T	GRCh38
NC_000001.10:g.76205768G>T , CM000663.1:g.76205768G>T	GRCh37
NC_000001.9:g.75978356G>T	NCBI36
NG_007045.2:g.20726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.572G>T MANE Select	ENSP00000359878.5:p.Trp191Leu
ENST00000473018.3:n.2696G>T
ENST00000541113.6:c.572G>T	ENSP00000442324.2:p.Trp191Leu
ENST00000679509.1:n.1534G>T
ENST00000679530.1:c.*340G>T	ENSP00000506454.1:n.*340G>T
ENST00000679615.1:n.2696G>T
ENST00000679687.1:c.134G>T	ENSP00000506598.1:p.Trp45Leu
ENST00000679704.1:c.*338G>T	ENSP00000505117.1:n.*338G>T
ENST00000679709.1:c.*535G>T	ENSP00000506623.1:n.*535G>T
ENST00000679804.1:n.311G>T
ENST00000679976.1:c.*156G>T	ENSP00000505565.1:n.*156G>T
ENST00000680166.1:n.3861G>T
ENST00000680517.1:c.*69G>T	ENSP00000505803.1:n.*69G>T
ENST00000680582.1:n.1534G>T
ENST00000680613.1:c.572G>T	ENSP00000506114.1:p.Trp191Leu
ENST00000680662.1:c.*486G>T	ENSP00000505080.1:n.*486G>T
ENST00000680691.1:c.*235G>T	ENSP00000506487.1:n.*235G>T
ENST00000680694.1:c.*160G>T	ENSP00000505658.1:n.*160G>T
ENST00000680743.1:c.*239G>T	ENSP00000505073.1:n.*239G>T
ENST00000680749.1:c.572G>T	ENSP00000505122.1:p.Trp191Leu
ENST00000680798.1:c.*156G>T	ENSP00000505670.1:n.*156G>T
ENST00000680805.1:c.572G>T	ENSP00000505447.1:p.Trp191Leu
ENST00000680844.1:c.*356G>T	ENSP00000506541.1:n.*356G>T
ENST00000680948.1:c.*439G>T	ENSP00000505441.1:n.*439G>T
ENST00000680964.1:c.572G>T	ENSP00000505961.1:p.Trp191Leu
ENST00000681037.1:c.572G>T	ENSP00000506025.1:p.Trp191Leu
ENST00000681063.1:c.572G>T	ENSP00000506616.1:p.Trp191Leu
ENST00000681209.1:c.*336G>T	ENSP00000505877.1:n.*336G>T
ENST00000681278.1:n.929G>T
ENST00000681289.1:n.929G>T
ENST00000681361.1:c.*239G>T	ENSP00000506679.1:n.*239G>T
ENST00000681430.1:c.572G>T	ENSP00000506301.1:p.Trp191Leu
ENST00000681446.1:c.*154G>T	ENSP00000506244.1:n.*154G>T
ENST00000681450.1:c.*243G>T	ENSP00000505660.1:n.*243G>T
ENST00000681548.1:c.*158G>T	ENSP00000505275.1:n.*158G>T
ENST00000681616.1:c.*340G>T	ENSP00000505111.1:n.*340G>T
ENST00000681621.1:c.*156G>T	ENSP00000505770.1:n.*156G>T
ENST00000681680.1:n.2696G>T
ENST00000681720.1:c.*55-5723G>T	ENSP00000505438.1:n.*55-5723G>T
ENST00000681730.1:n.794G>T
ENST00000681790.1:c.314G>T	ENSP00000505130.1:p.Trp105Leu
ENST00000681837.1:n.1188G>T
ENST00000681913.1:n.2696G>T
ENST00000681916.1:c.*340G>T	ENSP00000506477.1:n.*340G>T
ENST00000681930.1:n.2696G>T
ENST00000370834.9:c.671G>T	ENSP00000359871.5:p.Trp224Leu
ENST00000370841.8:c.572G>T	ENSP00000359878.4:p.Trp191Leu
ENST00000420607.6:c.584G>T	ENSP00000409612.2:p.Trp195Leu
ENST00000525808.5:c.*158G>T	ENSP00000434823.1:n.*158G>T
ENST00000526129.5:c.*356G>T	ENSP00000434092.1:n.*356G>T
ENST00000526196.5:c.*340G>T	ENSP00000431953.1:n.*340G>T
ENST00000526930.1:n.345G>T
ENST00000529059.5:n.481G>T
ENST00000530953.6:c.*69G>T	ENSP00000431372.1:n.*69G>T
ENST00000532509.5:c.*336G>T	ENSP00000432522.1:n.*336G>T
ENST00000534334.5:c.*156G>T	ENSP00000435584.1:n.*156G>T
ENST00000541113.5:c.464G>T	ENSP00000442324.1:p.Trp155Leu
NM_000016.5:c.572G>T	NP_000007.1:p.Trp191Leu
NM_001127328.2:c.584G>T	NP_001120800.1:p.Trp195Leu
NM_001286042.1:c.464G>T	NP_001272971.1:p.Trp155Leu
NM_001286043.1:c.671G>T	NP_001272972.1:p.Trp224Leu
NM_001286044.1:c.5G>T	NP_001272973.1:p.Trp2Leu
NM_000016.6:c.572G>T MANE Select	NP_000007.1:p.Trp191Leu
NM_001127328.3:c.584G>T	NP_001120800.1:p.Trp195Leu
NM_001286042.2:c.464G>T	NP_001272971.1:p.Trp155Leu
NM_001286043.2:c.671G>T	NP_001272972.1:p.Trp224Leu
NM_001286044.2:c.5G>T	NP_001272973.1:p.Trp2Leu