Canonical Allele Identifier: CA340818215

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226984A>T (hg19) ; chr1:g.75761299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761299A>T , CM000663.2:g.75761299A>T	GRCh38
NC_000001.10:g.76226984A>T , CM000663.1:g.76226984A>T	GRCh37
NC_000001.9:g.75999572A>T	NCBI36
NG_007045.2:g.41942A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1123A>T MANE Select	ENSP00000359878.5:p.Ile375Leu
ENST00000473018.3:n.3247A>T
ENST00000532207.6:n.2134A>T
ENST00000541113.6:c.1027A>T	ENSP00000442324.2:p.Ile343Leu
ENST00000679509.1:n.2085A>T
ENST00000679530.1:c.*891A>T	ENSP00000506454.1:n.*891A>T
ENST00000679615.1:n.3138A>T
ENST00000679687.1:c.685A>T	ENSP00000506598.1:p.Ile229Leu
ENST00000679704.1:c.*889A>T	ENSP00000505117.1:n.*889A>T
ENST00000679709.1:c.*1086A>T	ENSP00000506623.1:n.*1086A>T
ENST00000679976.1:c.*707A>T	ENSP00000505565.1:n.*707A>T
ENST00000680166.1:n.4412A>T
ENST00000680315.1:n.1006A>T
ENST00000680517.1:c.*511A>T	ENSP00000505803.1:n.*511A>T
ENST00000680582.1:n.2085A>T
ENST00000680613.1:c.*616A>T	ENSP00000506114.1:n.*616A>T
ENST00000680662.1:c.*1037A>T	ENSP00000505080.1:n.*1037A>T
ENST00000680691.1:c.*786A>T	ENSP00000506487.1:n.*786A>T
ENST00000680694.1:c.*711A>T	ENSP00000505658.1:n.*711A>T
ENST00000680743.1:c.*912A>T	ENSP00000505073.1:n.*912A>T
ENST00000680749.1:c.*408A>T	ENSP00000505122.1:n.*408A>T
ENST00000680798.1:c.*598A>T	ENSP00000505670.1:n.*598A>T
ENST00000680805.1:c.982A>T	ENSP00000505447.1:p.Ile328Leu
ENST00000680844.1:c.*907A>T	ENSP00000506541.1:n.*907A>T
ENST00000680948.1:c.*990A>T	ENSP00000505441.1:n.*990A>T
ENST00000680964.1:c.*216A>T	ENSP00000505961.1:n.*216A>T
ENST00000681037.1:c.*2607A>T	ENSP00000506025.1:n.*2607A>T
ENST00000681063.1:c.*392A>T	ENSP00000506616.1:n.*392A>T
ENST00000681209.1:c.*778A>T	ENSP00000505877.1:n.*778A>T
ENST00000681278.1:n.1825A>T
ENST00000681289.1:n.5118A>T
ENST00000681361.1:c.*790A>T	ENSP00000506679.1:n.*790A>T
ENST00000681430.1:c.*216A>T	ENSP00000506301.1:n.*216A>T
ENST00000681446.1:c.*827A>T	ENSP00000506244.1:n.*827A>T
ENST00000681450.1:c.*794A>T	ENSP00000505660.1:n.*794A>T
ENST00000681548.1:c.*709A>T	ENSP00000505275.1:n.*709A>T
ENST00000681616.1:c.*782A>T	ENSP00000505111.1:n.*782A>T
ENST00000681621.1:c.*707A>T	ENSP00000505770.1:n.*707A>T
ENST00000681680.1:n.3218A>T
ENST00000681720.1:c.*578A>T	ENSP00000505438.1:n.*578A>T
ENST00000681730.1:n.1345A>T
ENST00000681790.1:c.865A>T	ENSP00000505130.1:p.Ile289Leu
ENST00000681837.1:n.1739A>T
ENST00000681913.1:n.3369A>T
ENST00000681916.1:c.*891A>T	ENSP00000506477.1:n.*891A>T
ENST00000681930.1:n.3247A>T
ENST00000370834.9:c.1222A>T	ENSP00000359871.5:p.Ile408Leu
ENST00000370841.8:c.1123A>T	ENSP00000359878.4:p.Ile375Leu
ENST00000420607.6:c.1135A>T	ENSP00000409612.2:p.Ile379Leu
ENST00000481374.1:n.396A>T
ENST00000525808.5:c.*709A>T	ENSP00000434823.1:n.*709A>T
ENST00000526129.5:c.*907A>T	ENSP00000434092.1:n.*907A>T
ENST00000526196.5:c.*891A>T	ENSP00000431953.1:n.*891A>T
ENST00000528016.1:c.160-7878A>T	ENSP00000434284.1:n.160-7878A>T
ENST00000529059.5:n.1032A>T
ENST00000541113.5:c.1015A>T	ENSP00000442324.1:p.Ile339Leu
NM_000016.5:c.1123A>T	NP_000007.1:p.Ile375Leu
NM_001127328.2:c.1135A>T	NP_001120800.1:p.Ile379Leu
NM_001286042.1:c.1015A>T	NP_001272971.1:p.Ile339Leu
NM_001286043.1:c.1222A>T	NP_001272972.1:p.Ile408Leu
NM_001286044.1:c.556A>T	NP_001272973.1:p.Ile186Leu
NM_000016.6:c.1123A>T MANE Select	NP_000007.1:p.Ile375Leu
NM_001127328.3:c.1135A>T	NP_001120800.1:p.Ile379Leu
NM_001286042.2:c.1015A>T	NP_001272971.1:p.Ile339Leu
NM_001286043.2:c.1222A>T	NP_001272972.1:p.Ile408Leu
NM_001286044.2:c.556A>T	NP_001272973.1:p.Ile186Leu