Canonical Allele Identifier: CA340818268

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227008A>G (hg19) ; chr1:g.75761323A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761323A>G , CM000663.2:g.75761323A>G	GRCh38
NC_000001.10:g.76227008A>G , CM000663.1:g.76227008A>G	GRCh37
NC_000001.9:g.75999596A>G	NCBI36
NG_007045.2:g.41966A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1147A>G MANE Select	ENSP00000359878.5:p.Thr383Ala
ENST00000473018.3:n.3271A>G
ENST00000532207.6:n.2158A>G
ENST00000541113.6:c.1051A>G	ENSP00000442324.2:p.Thr351Ala
ENST00000679509.1:n.2109A>G
ENST00000679530.1:c.*915A>G	ENSP00000506454.1:n.*915A>G
ENST00000679615.1:n.3162A>G
ENST00000679687.1:c.709A>G	ENSP00000506598.1:p.Thr237Ala
ENST00000679704.1:c.*913A>G	ENSP00000505117.1:n.*913A>G
ENST00000679709.1:c.*1110A>G	ENSP00000506623.1:n.*1110A>G
ENST00000679976.1:c.*731A>G	ENSP00000505565.1:n.*731A>G
ENST00000680166.1:n.4436A>G
ENST00000680315.1:n.1030A>G
ENST00000680517.1:c.*535A>G	ENSP00000505803.1:n.*535A>G
ENST00000680582.1:n.2109A>G
ENST00000680613.1:c.*640A>G	ENSP00000506114.1:n.*640A>G
ENST00000680662.1:c.*1061A>G	ENSP00000505080.1:n.*1061A>G
ENST00000680691.1:c.*810A>G	ENSP00000506487.1:n.*810A>G
ENST00000680694.1:c.*735A>G	ENSP00000505658.1:n.*735A>G
ENST00000680743.1:c.*936A>G	ENSP00000505073.1:n.*936A>G
ENST00000680749.1:c.*432A>G	ENSP00000505122.1:n.*432A>G
ENST00000680798.1:c.*622A>G	ENSP00000505670.1:n.*622A>G
ENST00000680805.1:c.1006A>G	ENSP00000505447.1:p.Thr336Ala
ENST00000680844.1:c.*931A>G	ENSP00000506541.1:n.*931A>G
ENST00000680948.1:c.*1014A>G	ENSP00000505441.1:n.*1014A>G
ENST00000680964.1:c.*240A>G	ENSP00000505961.1:n.*240A>G
ENST00000681037.1:c.*2631A>G	ENSP00000506025.1:n.*2631A>G
ENST00000681063.1:c.*416A>G	ENSP00000506616.1:n.*416A>G
ENST00000681209.1:c.*802A>G	ENSP00000505877.1:n.*802A>G
ENST00000681278.1:n.1849A>G
ENST00000681289.1:n.5142A>G
ENST00000681361.1:c.*814A>G	ENSP00000506679.1:n.*814A>G
ENST00000681430.1:c.*240A>G	ENSP00000506301.1:n.*240A>G
ENST00000681446.1:c.*851A>G	ENSP00000506244.1:n.*851A>G
ENST00000681450.1:c.*818A>G	ENSP00000505660.1:n.*818A>G
ENST00000681548.1:c.*733A>G	ENSP00000505275.1:n.*733A>G
ENST00000681616.1:c.*806A>G	ENSP00000505111.1:n.*806A>G
ENST00000681621.1:c.*731A>G	ENSP00000505770.1:n.*731A>G
ENST00000681680.1:n.3242A>G
ENST00000681720.1:c.*602A>G	ENSP00000505438.1:n.*602A>G
ENST00000681730.1:n.1369A>G
ENST00000681790.1:c.889A>G	ENSP00000505130.1:p.Thr297Ala
ENST00000681837.1:n.1763A>G
ENST00000681913.1:n.3393A>G
ENST00000681916.1:c.*915A>G	ENSP00000506477.1:n.*915A>G
ENST00000681930.1:n.3271A>G
ENST00000370834.9:c.1246A>G	ENSP00000359871.5:p.Thr416Ala
ENST00000370841.8:c.1147A>G	ENSP00000359878.4:p.Thr383Ala
ENST00000420607.6:c.1159A>G	ENSP00000409612.2:p.Thr387Ala
ENST00000481374.1:n.420A>G
ENST00000525808.5:c.*733A>G	ENSP00000434823.1:n.*733A>G
ENST00000526129.5:c.*931A>G	ENSP00000434092.1:n.*931A>G
ENST00000526196.5:c.*915A>G	ENSP00000431953.1:n.*915A>G
ENST00000528016.1:c.160-7854A>G	ENSP00000434284.1:n.160-7854A>G
ENST00000529059.5:n.1056A>G
ENST00000541113.5:c.1039A>G	ENSP00000442324.1:p.Thr347Ala
NM_000016.5:c.1147A>G	NP_000007.1:p.Thr383Ala
NM_001127328.2:c.1159A>G	NP_001120800.1:p.Thr387Ala
NM_001286042.1:c.1039A>G	NP_001272971.1:p.Thr347Ala
NM_001286043.1:c.1246A>G	NP_001272972.1:p.Thr416Ala
NM_001286044.1:c.580A>G	NP_001272973.1:p.Thr194Ala
NM_000016.6:c.1147A>G MANE Select	NP_000007.1:p.Thr383Ala
NM_001127328.3:c.1159A>G	NP_001120800.1:p.Thr387Ala
NM_001286042.2:c.1039A>G	NP_001272971.1:p.Thr347Ala
NM_001286043.2:c.1246A>G	NP_001272972.1:p.Thr416Ala
NM_001286044.2:c.580A>G	NP_001272973.1:p.Thr194Ala