Canonical Allele Identifier: CA418544916

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215211T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749526T>G , CM000663.2:g.75749526T>G	GRCh38
NC_000001.10:g.76215211T>G , CM000663.1:g.76215211T>G	GRCh37
NC_000001.9:g.75987799T>G	NCBI36
NG_007045.2:g.30169T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.816T>G MANE Select	ENSP00000359878.5:p.Val272=
ENST00000473018.3:n.2940T>G
ENST00000532207.6:n.1705T>G
ENST00000541113.6:c.816T>G	ENSP00000442324.2:p.Val272=
ENST00000679509.1:n.1778T>G
ENST00000679530.1:c.*584T>G	ENSP00000506454.1:n.*584T>G
ENST00000679615.1:n.2831T>G
ENST00000679687.1:c.378T>G	ENSP00000506598.1:p.Val126=
ENST00000679704.1:c.*582T>G	ENSP00000505117.1:n.*582T>G
ENST00000679709.1:c.*779T>G	ENSP00000506623.1:n.*779T>G
ENST00000679976.1:c.*400T>G	ENSP00000505565.1:n.*400T>G
ENST00000680166.1:n.4105T>G
ENST00000680517.1:c.*204T>G	ENSP00000505803.1:n.*204T>G
ENST00000680582.1:n.1778T>G
ENST00000680613.1:c.*187T>G	ENSP00000506114.1:n.*187T>G
ENST00000680662.1:c.*730T>G	ENSP00000505080.1:n.*730T>G
ENST00000680691.1:c.*479T>G	ENSP00000506487.1:n.*479T>G
ENST00000680694.1:c.*404T>G	ENSP00000505658.1:n.*404T>G
ENST00000680743.1:c.*483T>G	ENSP00000505073.1:n.*483T>G
ENST00000680749.1:c.*101T>G	ENSP00000505122.1:n.*101T>G
ENST00000680798.1:c.*291T>G	ENSP00000505670.1:n.*291T>G
ENST00000680805.1:c.709-925T>G	ENSP00000505447.1:n.709-925T>G
ENST00000680844.1:c.*600T>G	ENSP00000506541.1:n.*600T>G
ENST00000680948.1:c.*683T>G	ENSP00000505441.1:n.*683T>G
ENST00000680964.1:c.816T>G	ENSP00000505961.1:p.Val272=
ENST00000681037.1:c.*2300T>G	ENSP00000506025.1:n.*2300T>G
ENST00000681063.1:c.600-925T>G	ENSP00000506616.1:n.600-925T>G
ENST00000681209.1:c.*471T>G	ENSP00000505877.1:n.*471T>G
ENST00000681278.1:n.1173T>G
ENST00000681289.1:n.4811T>G
ENST00000681361.1:c.*483T>G	ENSP00000506679.1:n.*483T>G
ENST00000681430.1:c.816T>G	ENSP00000506301.1:p.Val272=
ENST00000681446.1:c.*398T>G	ENSP00000506244.1:n.*398T>G
ENST00000681450.1:c.*487T>G	ENSP00000505660.1:n.*487T>G
ENST00000681548.1:c.*402T>G	ENSP00000505275.1:n.*402T>G
ENST00000681616.1:c.*475T>G	ENSP00000505111.1:n.*475T>G
ENST00000681621.1:c.*400T>G	ENSP00000505770.1:n.*400T>G
ENST00000681680.1:n.2911T>G
ENST00000681720.1:c.*271T>G	ENSP00000505438.1:n.*271T>G
ENST00000681730.1:n.1038T>G
ENST00000681790.1:c.558T>G	ENSP00000505130.1:p.Val186=
ENST00000681837.1:n.1432T>G
ENST00000681913.1:n.2940T>G
ENST00000681916.1:c.*584T>G	ENSP00000506477.1:n.*584T>G
ENST00000681930.1:n.2940T>G
ENST00000370834.9:c.915T>G	ENSP00000359871.5:p.Val305=
ENST00000370841.8:c.816T>G	ENSP00000359878.4:p.Val272=
ENST00000420607.6:c.828T>G	ENSP00000409612.2:p.Val276=
ENST00000525808.5:c.*402T>G	ENSP00000434823.1:n.*402T>G
ENST00000526129.5:c.*600T>G	ENSP00000434092.1:n.*600T>G
ENST00000526196.5:c.*584T>G	ENSP00000431953.1:n.*584T>G
ENST00000528016.1:c.30T>G	ENSP00000434284.1:p.Val10=
ENST00000529059.5:n.725T>G
ENST00000530953.6:c.*313T>G	ENSP00000431372.1:n.*313T>G
ENST00000532207.5:n.546T>G
ENST00000532509.5:c.*580T>G	ENSP00000432522.1:n.*580T>G
ENST00000534334.5:c.*400T>G	ENSP00000435584.1:n.*400T>G
ENST00000541113.5:c.708T>G	ENSP00000442324.1:p.Val236=
NM_000016.5:c.816T>G	NP_000007.1:p.Val272=
NM_001127328.2:c.828T>G	NP_001120800.1:p.Val276=
NM_001286042.1:c.708T>G	NP_001272971.1:p.Val236=
NM_001286043.1:c.915T>G	NP_001272972.1:p.Val305=
NM_001286044.1:c.249T>G	NP_001272973.1:p.Val83=
NM_000016.6:c.816T>G MANE Select	NP_000007.1:p.Val272=
NM_001127328.3:c.828T>G	NP_001120800.1:p.Val276=
NM_001286042.2:c.708T>G	NP_001272971.1:p.Val236=
NM_001286043.2:c.915T>G	NP_001272972.1:p.Val305=
NM_001286044.2:c.249T>G	NP_001272973.1:p.Val83=