Canonical Allele Identifier: CA340817900

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226837A>T (hg19) ; chr1:g.75761152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761152A>T , CM000663.2:g.75761152A>T	GRCh38
NC_000001.10:g.76226837A>T , CM000663.1:g.76226837A>T	GRCh37
NC_000001.9:g.75999425A>T	NCBI36
NG_007045.2:g.41795A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.976A>T MANE Select	ENSP00000359878.5:p.Met326Leu
ENST00000473018.3:n.3100A>T
ENST00000532207.6:n.1987A>T
ENST00000541113.6:c.880A>T	ENSP00000442324.2:p.Met294Leu
ENST00000679509.1:n.1938A>T
ENST00000679530.1:c.*744A>T	ENSP00000506454.1:n.*744A>T
ENST00000679615.1:n.2991A>T
ENST00000679687.1:c.538A>T	ENSP00000506598.1:p.Met180Leu
ENST00000679704.1:c.*742A>T	ENSP00000505117.1:n.*742A>T
ENST00000679709.1:c.*939A>T	ENSP00000506623.1:n.*939A>T
ENST00000679976.1:c.*560A>T	ENSP00000505565.1:n.*560A>T
ENST00000680166.1:n.4265A>T
ENST00000680315.1:n.859A>T
ENST00000680517.1:c.*364A>T	ENSP00000505803.1:n.*364A>T
ENST00000680582.1:n.1938A>T
ENST00000680613.1:c.*469A>T	ENSP00000506114.1:n.*469A>T
ENST00000680662.1:c.*890A>T	ENSP00000505080.1:n.*890A>T
ENST00000680691.1:c.*639A>T	ENSP00000506487.1:n.*639A>T
ENST00000680694.1:c.*564A>T	ENSP00000505658.1:n.*564A>T
ENST00000680743.1:c.*765A>T	ENSP00000505073.1:n.*765A>T
ENST00000680749.1:c.*261A>T	ENSP00000505122.1:n.*261A>T
ENST00000680798.1:c.*451A>T	ENSP00000505670.1:n.*451A>T
ENST00000680805.1:c.835A>T	ENSP00000505447.1:p.Met279Leu
ENST00000680844.1:c.*760A>T	ENSP00000506541.1:n.*760A>T
ENST00000680948.1:c.*843A>T	ENSP00000505441.1:n.*843A>T
ENST00000680964.1:c.*69A>T	ENSP00000505961.1:n.*69A>T
ENST00000681037.1:c.*2460A>T	ENSP00000506025.1:n.*2460A>T
ENST00000681063.1:c.*245A>T	ENSP00000506616.1:n.*245A>T
ENST00000681209.1:c.*631A>T	ENSP00000505877.1:n.*631A>T
ENST00000681278.1:n.1678A>T
ENST00000681289.1:n.4971A>T
ENST00000681361.1:c.*643A>T	ENSP00000506679.1:n.*643A>T
ENST00000681430.1:c.*69A>T	ENSP00000506301.1:n.*69A>T
ENST00000681446.1:c.*680A>T	ENSP00000506244.1:n.*680A>T
ENST00000681450.1:c.*647A>T	ENSP00000505660.1:n.*647A>T
ENST00000681548.1:c.*562A>T	ENSP00000505275.1:n.*562A>T
ENST00000681616.1:c.*635A>T	ENSP00000505111.1:n.*635A>T
ENST00000681621.1:c.*560A>T	ENSP00000505770.1:n.*560A>T
ENST00000681680.1:n.3071A>T
ENST00000681720.1:c.*431A>T	ENSP00000505438.1:n.*431A>T
ENST00000681730.1:n.1198A>T
ENST00000681790.1:c.718A>T	ENSP00000505130.1:p.Met240Leu
ENST00000681837.1:n.1592A>T
ENST00000681913.1:n.3222A>T
ENST00000681916.1:c.*744A>T	ENSP00000506477.1:n.*744A>T
ENST00000681930.1:n.3100A>T
ENST00000370834.9:c.1075A>T	ENSP00000359871.5:p.Met359Leu
ENST00000370841.8:c.976A>T	ENSP00000359878.4:p.Met326Leu
ENST00000420607.6:c.988A>T	ENSP00000409612.2:p.Met330Leu
ENST00000481374.1:n.249A>T
ENST00000525808.5:c.*562A>T	ENSP00000434823.1:n.*562A>T
ENST00000526129.5:c.*760A>T	ENSP00000434092.1:n.*760A>T
ENST00000526196.5:c.*744A>T	ENSP00000431953.1:n.*744A>T
ENST00000528016.1:c.160-8025A>T	ENSP00000434284.1:n.160-8025A>T
ENST00000529059.5:n.885A>T
ENST00000532207.5:n.706A>T
ENST00000534334.5:c.*717A>T	ENSP00000435584.1:n.*717A>T
ENST00000541113.5:c.868A>T	ENSP00000442324.1:p.Met290Leu
NM_000016.5:c.976A>T	NP_000007.1:p.Met326Leu
NM_001127328.2:c.988A>T	NP_001120800.1:p.Met330Leu
NM_001286042.1:c.868A>T	NP_001272971.1:p.Met290Leu
NM_001286043.1:c.1075A>T	NP_001272972.1:p.Met359Leu
NM_001286044.1:c.409A>T	NP_001272973.1:p.Met137Leu
NM_000016.6:c.976A>T MANE Select	NP_000007.1:p.Met326Leu
NM_001127328.3:c.988A>T	NP_001120800.1:p.Met330Leu
NM_001286042.2:c.868A>T	NP_001272971.1:p.Met290Leu
NM_001286043.2:c.1075A>T	NP_001272972.1:p.Met359Leu
NM_001286044.2:c.409A>T	NP_001272973.1:p.Met137Leu