Canonical Allele Identifier: CA340818020

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226889A>T (hg19) ; chr1:g.75761204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761204A>T , CM000663.2:g.75761204A>T	GRCh38
NC_000001.10:g.76226889A>T , CM000663.1:g.76226889A>T	GRCh37
NC_000001.9:g.75999477A>T	NCBI36
NG_007045.2:g.41847A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1028A>T MANE Select	ENSP00000359878.5:p.Glu343Val
ENST00000473018.3:n.3152A>T
ENST00000532207.6:n.2039A>T
ENST00000541113.6:c.932A>T	ENSP00000442324.2:p.Glu311Val
ENST00000679509.1:n.1990A>T
ENST00000679530.1:c.*796A>T	ENSP00000506454.1:n.*796A>T
ENST00000679615.1:n.3043A>T
ENST00000679687.1:c.590A>T	ENSP00000506598.1:p.Glu197Val
ENST00000679704.1:c.*794A>T	ENSP00000505117.1:n.*794A>T
ENST00000679709.1:c.*991A>T	ENSP00000506623.1:n.*991A>T
ENST00000679976.1:c.*612A>T	ENSP00000505565.1:n.*612A>T
ENST00000680166.1:n.4317A>T
ENST00000680315.1:n.911A>T
ENST00000680517.1:c.*416A>T	ENSP00000505803.1:n.*416A>T
ENST00000680582.1:n.1990A>T
ENST00000680613.1:c.*521A>T	ENSP00000506114.1:n.*521A>T
ENST00000680662.1:c.*942A>T	ENSP00000505080.1:n.*942A>T
ENST00000680691.1:c.*691A>T	ENSP00000506487.1:n.*691A>T
ENST00000680694.1:c.*616A>T	ENSP00000505658.1:n.*616A>T
ENST00000680743.1:c.*817A>T	ENSP00000505073.1:n.*817A>T
ENST00000680749.1:c.*313A>T	ENSP00000505122.1:n.*313A>T
ENST00000680798.1:c.*503A>T	ENSP00000505670.1:n.*503A>T
ENST00000680805.1:c.887A>T	ENSP00000505447.1:p.Glu296Val
ENST00000680844.1:c.*812A>T	ENSP00000506541.1:n.*812A>T
ENST00000680948.1:c.*895A>T	ENSP00000505441.1:n.*895A>T
ENST00000680964.1:c.*121A>T	ENSP00000505961.1:n.*121A>T
ENST00000681037.1:c.*2512A>T	ENSP00000506025.1:n.*2512A>T
ENST00000681063.1:c.*297A>T	ENSP00000506616.1:n.*297A>T
ENST00000681209.1:c.*683A>T	ENSP00000505877.1:n.*683A>T
ENST00000681278.1:n.1730A>T
ENST00000681289.1:n.5023A>T
ENST00000681361.1:c.*695A>T	ENSP00000506679.1:n.*695A>T
ENST00000681430.1:c.*121A>T	ENSP00000506301.1:n.*121A>T
ENST00000681446.1:c.*732A>T	ENSP00000506244.1:n.*732A>T
ENST00000681450.1:c.*699A>T	ENSP00000505660.1:n.*699A>T
ENST00000681548.1:c.*614A>T	ENSP00000505275.1:n.*614A>T
ENST00000681616.1:c.*687A>T	ENSP00000505111.1:n.*687A>T
ENST00000681621.1:c.*612A>T	ENSP00000505770.1:n.*612A>T
ENST00000681680.1:n.3123A>T
ENST00000681720.1:c.*483A>T	ENSP00000505438.1:n.*483A>T
ENST00000681730.1:n.1250A>T
ENST00000681790.1:c.770A>T	ENSP00000505130.1:p.Glu257Val
ENST00000681837.1:n.1644A>T
ENST00000681913.1:n.3274A>T
ENST00000681916.1:c.*796A>T	ENSP00000506477.1:n.*796A>T
ENST00000681930.1:n.3152A>T
ENST00000370834.9:c.1127A>T	ENSP00000359871.5:p.Glu376Val
ENST00000370841.8:c.1028A>T	ENSP00000359878.4:p.Glu343Val
ENST00000420607.6:c.1040A>T	ENSP00000409612.2:p.Glu347Val
ENST00000481374.1:n.301A>T
ENST00000525808.5:c.*614A>T	ENSP00000434823.1:n.*614A>T
ENST00000526129.5:c.*812A>T	ENSP00000434092.1:n.*812A>T
ENST00000526196.5:c.*796A>T	ENSP00000431953.1:n.*796A>T
ENST00000528016.1:c.160-7973A>T	ENSP00000434284.1:n.160-7973A>T
ENST00000529059.5:n.937A>T
ENST00000532207.5:n.758A>T
ENST00000534334.5:c.*769A>T	ENSP00000435584.1:n.*769A>T
ENST00000541113.5:c.920A>T	ENSP00000442324.1:p.Glu307Val
NM_000016.5:c.1028A>T	NP_000007.1:p.Glu343Val
NM_001127328.2:c.1040A>T	NP_001120800.1:p.Glu347Val
NM_001286042.1:c.920A>T	NP_001272971.1:p.Glu307Val
NM_001286043.1:c.1127A>T	NP_001272972.1:p.Glu376Val
NM_001286044.1:c.461A>T	NP_001272973.1:p.Glu154Val
NM_000016.6:c.1028A>T MANE Select	NP_000007.1:p.Glu343Val
NM_001127328.3:c.1040A>T	NP_001120800.1:p.Glu347Val
NM_001286042.2:c.920A>T	NP_001272971.1:p.Glu307Val
NM_001286043.2:c.1127A>T	NP_001272972.1:p.Glu376Val
NM_001286044.2:c.461A>T	NP_001272973.1:p.Glu154Val