Canonical Allele Identifier: CA340818117

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226937C>A (hg19) ; chr1:g.75761252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761252C>A , CM000663.2:g.75761252C>A	GRCh38
NC_000001.10:g.76226937C>A , CM000663.1:g.76226937C>A	GRCh37
NC_000001.9:g.75999525C>A	NCBI36
NG_007045.2:g.41895C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1076C>A MANE Select	ENSP00000359878.5:p.Ala359Glu
ENST00000473018.3:n.3200C>A
ENST00000532207.6:n.2087C>A
ENST00000541113.6:c.980C>A	ENSP00000442324.2:p.Ala327Glu
ENST00000679509.1:n.2038C>A
ENST00000679530.1:c.*844C>A	ENSP00000506454.1:n.*844C>A
ENST00000679615.1:n.3091C>A
ENST00000679687.1:c.638C>A	ENSP00000506598.1:p.Ala213Glu
ENST00000679704.1:c.*842C>A	ENSP00000505117.1:n.*842C>A
ENST00000679709.1:c.*1039C>A	ENSP00000506623.1:n.*1039C>A
ENST00000679976.1:c.*660C>A	ENSP00000505565.1:n.*660C>A
ENST00000680166.1:n.4365C>A
ENST00000680315.1:n.959C>A
ENST00000680517.1:c.*464C>A	ENSP00000505803.1:n.*464C>A
ENST00000680582.1:n.2038C>A
ENST00000680613.1:c.*569C>A	ENSP00000506114.1:n.*569C>A
ENST00000680662.1:c.*990C>A	ENSP00000505080.1:n.*990C>A
ENST00000680691.1:c.*739C>A	ENSP00000506487.1:n.*739C>A
ENST00000680694.1:c.*664C>A	ENSP00000505658.1:n.*664C>A
ENST00000680743.1:c.*865C>A	ENSP00000505073.1:n.*865C>A
ENST00000680749.1:c.*361C>A	ENSP00000505122.1:n.*361C>A
ENST00000680798.1:c.*551C>A	ENSP00000505670.1:n.*551C>A
ENST00000680805.1:c.935C>A	ENSP00000505447.1:p.Ala312Glu
ENST00000680844.1:c.*860C>A	ENSP00000506541.1:n.*860C>A
ENST00000680948.1:c.*943C>A	ENSP00000505441.1:n.*943C>A
ENST00000680964.1:c.*169C>A	ENSP00000505961.1:n.*169C>A
ENST00000681037.1:c.*2560C>A	ENSP00000506025.1:n.*2560C>A
ENST00000681063.1:c.*345C>A	ENSP00000506616.1:n.*345C>A
ENST00000681209.1:c.*731C>A	ENSP00000505877.1:n.*731C>A
ENST00000681278.1:n.1778C>A
ENST00000681289.1:n.5071C>A
ENST00000681361.1:c.*743C>A	ENSP00000506679.1:n.*743C>A
ENST00000681430.1:c.*169C>A	ENSP00000506301.1:n.*169C>A
ENST00000681446.1:c.*780C>A	ENSP00000506244.1:n.*780C>A
ENST00000681450.1:c.*747C>A	ENSP00000505660.1:n.*747C>A
ENST00000681548.1:c.*662C>A	ENSP00000505275.1:n.*662C>A
ENST00000681616.1:c.*735C>A	ENSP00000505111.1:n.*735C>A
ENST00000681621.1:c.*660C>A	ENSP00000505770.1:n.*660C>A
ENST00000681680.1:n.3171C>A
ENST00000681720.1:c.*531C>A	ENSP00000505438.1:n.*531C>A
ENST00000681730.1:n.1298C>A
ENST00000681790.1:c.818C>A	ENSP00000505130.1:p.Ala273Glu
ENST00000681837.1:n.1692C>A
ENST00000681913.1:n.3322C>A
ENST00000681916.1:c.*844C>A	ENSP00000506477.1:n.*844C>A
ENST00000681930.1:n.3200C>A
ENST00000370834.9:c.1175C>A	ENSP00000359871.5:p.Ala392Glu
ENST00000370841.8:c.1076C>A	ENSP00000359878.4:p.Ala359Glu
ENST00000420607.6:c.1088C>A	ENSP00000409612.2:p.Ala363Glu
ENST00000481374.1:n.349C>A
ENST00000525808.5:c.*662C>A	ENSP00000434823.1:n.*662C>A
ENST00000526129.5:c.*860C>A	ENSP00000434092.1:n.*860C>A
ENST00000526196.5:c.*844C>A	ENSP00000431953.1:n.*844C>A
ENST00000528016.1:c.160-7925C>A	ENSP00000434284.1:n.160-7925C>A
ENST00000529059.5:n.985C>A
ENST00000541113.5:c.968C>A	ENSP00000442324.1:p.Ala323Glu
NM_000016.5:c.1076C>A	NP_000007.1:p.Ala359Glu
NM_001127328.2:c.1088C>A	NP_001120800.1:p.Ala363Glu
NM_001286042.1:c.968C>A	NP_001272971.1:p.Ala323Glu
NM_001286043.1:c.1175C>A	NP_001272972.1:p.Ala392Glu
NM_001286044.1:c.509C>A	NP_001272973.1:p.Ala170Glu
NM_000016.6:c.1076C>A MANE Select	NP_000007.1:p.Ala359Glu
NM_001127328.3:c.1088C>A	NP_001120800.1:p.Ala363Glu
NM_001286042.2:c.968C>A	NP_001272971.1:p.Ala323Glu
NM_001286043.2:c.1175C>A	NP_001272972.1:p.Ala392Glu
NM_001286044.2:c.509C>A	NP_001272973.1:p.Ala170Glu