Canonical Allele Identifier: CA340818291

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227018C>G (hg19) ; chr1:g.75761333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761333C>G , CM000663.2:g.75761333C>G	GRCh38
NC_000001.10:g.76227018C>G , CM000663.1:g.76227018C>G	GRCh37
NC_000001.9:g.75999606C>G	NCBI36
NG_007045.2:g.41976C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1157C>G MANE Select	ENSP00000359878.5:p.Pro386Arg
ENST00000473018.3:n.3281C>G
ENST00000532207.6:n.2168C>G
ENST00000541113.6:c.1061C>G	ENSP00000442324.2:p.Pro354Arg
ENST00000679509.1:n.2119C>G
ENST00000679530.1:c.*925C>G	ENSP00000506454.1:n.*925C>G
ENST00000679615.1:n.3172C>G
ENST00000679687.1:c.719C>G	ENSP00000506598.1:p.Pro240Arg
ENST00000679704.1:c.*923C>G	ENSP00000505117.1:n.*923C>G
ENST00000679709.1:c.*1120C>G	ENSP00000506623.1:n.*1120C>G
ENST00000679976.1:c.*741C>G	ENSP00000505565.1:n.*741C>G
ENST00000680166.1:n.4446C>G
ENST00000680315.1:n.1040C>G
ENST00000680517.1:c.*545C>G	ENSP00000505803.1:n.*545C>G
ENST00000680582.1:n.2119C>G
ENST00000680613.1:c.*650C>G	ENSP00000506114.1:n.*650C>G
ENST00000680662.1:c.*1071C>G	ENSP00000505080.1:n.*1071C>G
ENST00000680691.1:c.*820C>G	ENSP00000506487.1:n.*820C>G
ENST00000680694.1:c.*745C>G	ENSP00000505658.1:n.*745C>G
ENST00000680743.1:c.*946C>G	ENSP00000505073.1:n.*946C>G
ENST00000680749.1:c.*442C>G	ENSP00000505122.1:n.*442C>G
ENST00000680798.1:c.*632C>G	ENSP00000505670.1:n.*632C>G
ENST00000680805.1:c.1016C>G	ENSP00000505447.1:p.Pro339Arg
ENST00000680844.1:c.*941C>G	ENSP00000506541.1:n.*941C>G
ENST00000680948.1:c.*1024C>G	ENSP00000505441.1:n.*1024C>G
ENST00000680964.1:c.*250C>G	ENSP00000505961.1:n.*250C>G
ENST00000681037.1:c.*2641C>G	ENSP00000506025.1:n.*2641C>G
ENST00000681063.1:c.*426C>G	ENSP00000506616.1:n.*426C>G
ENST00000681209.1:c.*812C>G	ENSP00000505877.1:n.*812C>G
ENST00000681278.1:n.1859C>G
ENST00000681289.1:n.5152C>G
ENST00000681361.1:c.*824C>G	ENSP00000506679.1:n.*824C>G
ENST00000681430.1:c.*250C>G	ENSP00000506301.1:n.*250C>G
ENST00000681446.1:c.*861C>G	ENSP00000506244.1:n.*861C>G
ENST00000681450.1:c.*828C>G	ENSP00000505660.1:n.*828C>G
ENST00000681548.1:c.*743C>G	ENSP00000505275.1:n.*743C>G
ENST00000681616.1:c.*816C>G	ENSP00000505111.1:n.*816C>G
ENST00000681621.1:c.*741C>G	ENSP00000505770.1:n.*741C>G
ENST00000681680.1:n.3252C>G
ENST00000681720.1:c.*612C>G	ENSP00000505438.1:n.*612C>G
ENST00000681730.1:n.1379C>G
ENST00000681790.1:c.899C>G	ENSP00000505130.1:p.Pro300Arg
ENST00000681837.1:n.1773C>G
ENST00000681913.1:n.3403C>G
ENST00000681916.1:c.*925C>G	ENSP00000506477.1:n.*925C>G
ENST00000681930.1:n.3281C>G
ENST00000370834.9:c.1256C>G	ENSP00000359871.5:p.Pro419Arg
ENST00000370841.8:c.1157C>G	ENSP00000359878.4:p.Pro386Arg
ENST00000420607.6:c.1169C>G	ENSP00000409612.2:p.Pro390Arg
ENST00000481374.1:n.430C>G
ENST00000525808.5:c.*743C>G	ENSP00000434823.1:n.*743C>G
ENST00000526129.5:c.*941C>G	ENSP00000434092.1:n.*941C>G
ENST00000526196.5:c.*925C>G	ENSP00000431953.1:n.*925C>G
ENST00000528016.1:c.160-7844C>G	ENSP00000434284.1:n.160-7844C>G
ENST00000529059.5:n.1066C>G
ENST00000541113.5:c.1049C>G	ENSP00000442324.1:p.Pro350Arg
NM_000016.5:c.1157C>G	NP_000007.1:p.Pro386Arg
NM_001127328.2:c.1169C>G	NP_001120800.1:p.Pro390Arg
NM_001286042.1:c.1049C>G	NP_001272971.1:p.Pro350Arg
NM_001286043.1:c.1256C>G	NP_001272972.1:p.Pro419Arg
NM_001286044.1:c.590C>G	NP_001272973.1:p.Pro197Arg
NM_000016.6:c.1157C>G MANE Select	NP_000007.1:p.Pro386Arg
NM_001127328.3:c.1169C>G	NP_001120800.1:p.Pro390Arg
NM_001286042.2:c.1049C>G	NP_001272971.1:p.Pro350Arg
NM_001286043.2:c.1256C>G	NP_001272972.1:p.Pro419Arg
NM_001286044.2:c.590C>G	NP_001272973.1:p.Pro197Arg