Canonical Allele Identifier: CA418707784

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227022A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761337A>C , CM000663.2:g.75761337A>C	GRCh38
NC_000001.10:g.76227022A>C , CM000663.1:g.76227022A>C	GRCh37
NC_000001.9:g.75999610A>C	NCBI36
NG_007045.2:g.41980A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1161A>C MANE Select	ENSP00000359878.5:p.Val387=
ENST00000473018.3:n.3285A>C
ENST00000532207.6:n.2172A>C
ENST00000541113.6:c.1065A>C	ENSP00000442324.2:p.Val355=
ENST00000679509.1:n.2123A>C
ENST00000679530.1:c.*929A>C	ENSP00000506454.1:n.*929A>C
ENST00000679615.1:n.3176A>C
ENST00000679687.1:c.723A>C	ENSP00000506598.1:p.Val241=
ENST00000679704.1:c.*927A>C	ENSP00000505117.1:n.*927A>C
ENST00000679709.1:c.*1124A>C	ENSP00000506623.1:n.*1124A>C
ENST00000679976.1:c.*745A>C	ENSP00000505565.1:n.*745A>C
ENST00000680166.1:n.4450A>C
ENST00000680315.1:n.1044A>C
ENST00000680517.1:c.*549A>C	ENSP00000505803.1:n.*549A>C
ENST00000680582.1:n.2123A>C
ENST00000680613.1:c.*654A>C	ENSP00000506114.1:n.*654A>C
ENST00000680662.1:c.*1075A>C	ENSP00000505080.1:n.*1075A>C
ENST00000680691.1:c.*824A>C	ENSP00000506487.1:n.*824A>C
ENST00000680694.1:c.*749A>C	ENSP00000505658.1:n.*749A>C
ENST00000680743.1:c.*950A>C	ENSP00000505073.1:n.*950A>C
ENST00000680749.1:c.*446A>C	ENSP00000505122.1:n.*446A>C
ENST00000680798.1:c.*636A>C	ENSP00000505670.1:n.*636A>C
ENST00000680805.1:c.1020A>C	ENSP00000505447.1:p.Val340=
ENST00000680844.1:c.*945A>C	ENSP00000506541.1:n.*945A>C
ENST00000680948.1:c.*1028A>C	ENSP00000505441.1:n.*1028A>C
ENST00000680964.1:c.*254A>C	ENSP00000505961.1:n.*254A>C
ENST00000681037.1:c.*2645A>C	ENSP00000506025.1:n.*2645A>C
ENST00000681063.1:c.*430A>C	ENSP00000506616.1:n.*430A>C
ENST00000681209.1:c.*816A>C	ENSP00000505877.1:n.*816A>C
ENST00000681278.1:n.1863A>C
ENST00000681289.1:n.5156A>C
ENST00000681361.1:c.*828A>C	ENSP00000506679.1:n.*828A>C
ENST00000681430.1:c.*254A>C	ENSP00000506301.1:n.*254A>C
ENST00000681446.1:c.*865A>C	ENSP00000506244.1:n.*865A>C
ENST00000681450.1:c.*832A>C	ENSP00000505660.1:n.*832A>C
ENST00000681548.1:c.*747A>C	ENSP00000505275.1:n.*747A>C
ENST00000681616.1:c.*820A>C	ENSP00000505111.1:n.*820A>C
ENST00000681621.1:c.*745A>C	ENSP00000505770.1:n.*745A>C
ENST00000681680.1:n.3256A>C
ENST00000681720.1:c.*616A>C	ENSP00000505438.1:n.*616A>C
ENST00000681730.1:n.1383A>C
ENST00000681790.1:c.903A>C	ENSP00000505130.1:p.Val301=
ENST00000681837.1:n.1777A>C
ENST00000681913.1:n.3407A>C
ENST00000681916.1:c.*929A>C	ENSP00000506477.1:n.*929A>C
ENST00000681930.1:n.3285A>C
ENST00000370834.9:c.1260A>C	ENSP00000359871.5:p.Val420=
ENST00000370841.8:c.1161A>C	ENSP00000359878.4:p.Val387=
ENST00000420607.6:c.1173A>C	ENSP00000409612.2:p.Val391=
ENST00000481374.1:n.434A>C
ENST00000525808.5:c.*747A>C	ENSP00000434823.1:n.*747A>C
ENST00000526129.5:c.*945A>C	ENSP00000434092.1:n.*945A>C
ENST00000526196.5:c.*929A>C	ENSP00000431953.1:n.*929A>C
ENST00000528016.1:c.160-7840A>C	ENSP00000434284.1:n.160-7840A>C
ENST00000529059.5:n.1070A>C
ENST00000541113.5:c.1053A>C	ENSP00000442324.1:p.Val351=
NM_000016.5:c.1161A>C	NP_000007.1:p.Val387=
NM_001127328.2:c.1173A>C	NP_001120800.1:p.Val391=
NM_001286042.1:c.1053A>C	NP_001272971.1:p.Val351=
NM_001286043.1:c.1260A>C	NP_001272972.1:p.Val420=
NM_001286044.1:c.594A>C	NP_001272973.1:p.Val198=
NM_000016.6:c.1161A>C MANE Select	NP_000007.1:p.Val387=
NM_001127328.3:c.1173A>C	NP_001120800.1:p.Val391=
NM_001286042.2:c.1053A>C	NP_001272971.1:p.Val351=
NM_001286043.2:c.1260A>C	NP_001272972.1:p.Val420=
NM_001286044.2:c.594A>C	NP_001272973.1:p.Val198=