Canonical Allele Identifier: CA340818034

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226896T>G (hg19) ; chr1:g.75761211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761211T>G , CM000663.2:g.75761211T>G	GRCh38
NC_000001.10:g.76226896T>G , CM000663.1:g.76226896T>G	GRCh37
NC_000001.9:g.75999484T>G	NCBI36
NG_007045.2:g.41854T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1035T>G MANE Select	ENSP00000359878.5:p.Asp345Glu
ENST00000473018.3:n.3159T>G
ENST00000532207.6:n.2046T>G
ENST00000541113.6:c.939T>G	ENSP00000442324.2:p.Asp313Glu
ENST00000679509.1:n.1997T>G
ENST00000679530.1:c.*803T>G	ENSP00000506454.1:n.*803T>G
ENST00000679615.1:n.3050T>G
ENST00000679687.1:c.597T>G	ENSP00000506598.1:p.Asp199Glu
ENST00000679704.1:c.*801T>G	ENSP00000505117.1:n.*801T>G
ENST00000679709.1:c.*998T>G	ENSP00000506623.1:n.*998T>G
ENST00000679976.1:c.*619T>G	ENSP00000505565.1:n.*619T>G
ENST00000680166.1:n.4324T>G
ENST00000680315.1:n.918T>G
ENST00000680517.1:c.*423T>G	ENSP00000505803.1:n.*423T>G
ENST00000680582.1:n.1997T>G
ENST00000680613.1:c.*528T>G	ENSP00000506114.1:n.*528T>G
ENST00000680662.1:c.*949T>G	ENSP00000505080.1:n.*949T>G
ENST00000680691.1:c.*698T>G	ENSP00000506487.1:n.*698T>G
ENST00000680694.1:c.*623T>G	ENSP00000505658.1:n.*623T>G
ENST00000680743.1:c.*824T>G	ENSP00000505073.1:n.*824T>G
ENST00000680749.1:c.*320T>G	ENSP00000505122.1:n.*320T>G
ENST00000680798.1:c.*510T>G	ENSP00000505670.1:n.*510T>G
ENST00000680805.1:c.894T>G	ENSP00000505447.1:p.Asp298Glu
ENST00000680844.1:c.*819T>G	ENSP00000506541.1:n.*819T>G
ENST00000680948.1:c.*902T>G	ENSP00000505441.1:n.*902T>G
ENST00000680964.1:c.*128T>G	ENSP00000505961.1:n.*128T>G
ENST00000681037.1:c.*2519T>G	ENSP00000506025.1:n.*2519T>G
ENST00000681063.1:c.*304T>G	ENSP00000506616.1:n.*304T>G
ENST00000681209.1:c.*690T>G	ENSP00000505877.1:n.*690T>G
ENST00000681278.1:n.1737T>G
ENST00000681289.1:n.5030T>G
ENST00000681361.1:c.*702T>G	ENSP00000506679.1:n.*702T>G
ENST00000681430.1:c.*128T>G	ENSP00000506301.1:n.*128T>G
ENST00000681446.1:c.*739T>G	ENSP00000506244.1:n.*739T>G
ENST00000681450.1:c.*706T>G	ENSP00000505660.1:n.*706T>G
ENST00000681548.1:c.*621T>G	ENSP00000505275.1:n.*621T>G
ENST00000681616.1:c.*694T>G	ENSP00000505111.1:n.*694T>G
ENST00000681621.1:c.*619T>G	ENSP00000505770.1:n.*619T>G
ENST00000681680.1:n.3130T>G
ENST00000681720.1:c.*490T>G	ENSP00000505438.1:n.*490T>G
ENST00000681730.1:n.1257T>G
ENST00000681790.1:c.777T>G	ENSP00000505130.1:p.Asp259Glu
ENST00000681837.1:n.1651T>G
ENST00000681913.1:n.3281T>G
ENST00000681916.1:c.*803T>G	ENSP00000506477.1:n.*803T>G
ENST00000681930.1:n.3159T>G
ENST00000370834.9:c.1134T>G	ENSP00000359871.5:p.Asp378Glu
ENST00000370841.8:c.1035T>G	ENSP00000359878.4:p.Asp345Glu
ENST00000420607.6:c.1047T>G	ENSP00000409612.2:p.Asp349Glu
ENST00000481374.1:n.308T>G
ENST00000525808.5:c.*621T>G	ENSP00000434823.1:n.*621T>G
ENST00000526129.5:c.*819T>G	ENSP00000434092.1:n.*819T>G
ENST00000526196.5:c.*803T>G	ENSP00000431953.1:n.*803T>G
ENST00000528016.1:c.160-7966T>G	ENSP00000434284.1:n.160-7966T>G
ENST00000529059.5:n.944T>G
ENST00000534334.5:c.*776T>G	ENSP00000435584.1:n.*776T>G
ENST00000541113.5:c.927T>G	ENSP00000442324.1:p.Asp309Glu
NM_000016.5:c.1035T>G	NP_000007.1:p.Asp345Glu
NM_001127328.2:c.1047T>G	NP_001120800.1:p.Asp349Glu
NM_001286042.1:c.927T>G	NP_001272971.1:p.Asp309Glu
NM_001286043.1:c.1134T>G	NP_001272972.1:p.Asp378Glu
NM_001286044.1:c.468T>G	NP_001272973.1:p.Asp156Glu
NM_000016.6:c.1035T>G MANE Select	NP_000007.1:p.Asp345Glu
NM_001127328.3:c.1047T>G	NP_001120800.1:p.Asp349Glu
NM_001286042.2:c.927T>G	NP_001272971.1:p.Asp309Glu
NM_001286043.2:c.1134T>G	NP_001272972.1:p.Asp378Glu
NM_001286044.2:c.468T>G	NP_001272973.1:p.Asp156Glu