Canonical Allele Identifier: CA340816069

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1985821
• ClinVar RCV Id: RCV002781034
• MyVariant Identifiers: chr1:g.76211550C>G (hg19) ; chr1:g.75745865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745865C>G , CM000663.2:g.75745865C>G	GRCh38
NC_000001.10:g.76211550C>G , CM000663.1:g.76211550C>G	GRCh37
NC_000001.9:g.75984138C>G	NCBI36
NG_007045.2:g.26508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.659C>G MANE Select	ENSP00000359878.5:p.Thr220Ser
ENST00000473018.3:n.2783C>G
ENST00000532207.6:n.1548C>G
ENST00000541113.6:c.659C>G	ENSP00000442324.2:p.Thr220Ser
ENST00000679509.1:n.1621C>G
ENST00000679530.1:c.*427C>G	ENSP00000506454.1:n.*427C>G
ENST00000679615.1:n.2724-3554C>G
ENST00000679687.1:c.221C>G	ENSP00000506598.1:p.Thr74Ser
ENST00000679704.1:c.*425C>G	ENSP00000505117.1:n.*425C>G
ENST00000679709.1:c.*622C>G	ENSP00000506623.1:n.*622C>G
ENST00000679976.1:c.*243C>G	ENSP00000505565.1:n.*243C>G
ENST00000680166.1:n.3948C>G
ENST00000680517.1:c.*97-3554C>G	ENSP00000505803.1:n.*97-3554C>G
ENST00000680582.1:n.1621C>G
ENST00000680613.1:c.*30C>G	ENSP00000506114.1:n.*30C>G
ENST00000680662.1:c.*573C>G	ENSP00000505080.1:n.*573C>G
ENST00000680691.1:c.*322C>G	ENSP00000506487.1:n.*322C>G
ENST00000680694.1:c.*247C>G	ENSP00000505658.1:n.*247C>G
ENST00000680743.1:c.*326C>G	ENSP00000505073.1:n.*326C>G
ENST00000680749.1:c.600-3554C>G	ENSP00000505122.1:n.600-3554C>G
ENST00000680798.1:c.*184-3554C>G	ENSP00000505670.1:n.*184-3554C>G
ENST00000680805.1:c.659C>G	ENSP00000505447.1:p.Thr220Ser
ENST00000680844.1:c.*443C>G	ENSP00000506541.1:n.*443C>G
ENST00000680948.1:c.*526C>G	ENSP00000505441.1:n.*526C>G
ENST00000680964.1:c.659C>G	ENSP00000505961.1:p.Thr220Ser
ENST00000681037.1:c.*2143C>G	ENSP00000506025.1:n.*2143C>G
ENST00000681063.1:c.600-4586C>G	ENSP00000506616.1:n.600-4586C>G
ENST00000681209.1:c.*364-3554C>G	ENSP00000505877.1:n.*364-3554C>G
ENST00000681278.1:n.1016C>G
ENST00000681289.1:n.4654C>G
ENST00000681361.1:c.*326C>G	ENSP00000506679.1:n.*326C>G
ENST00000681430.1:c.659C>G	ENSP00000506301.1:p.Thr220Ser
ENST00000681446.1:c.*241C>G	ENSP00000506244.1:n.*241C>G
ENST00000681450.1:c.*330C>G	ENSP00000505660.1:n.*330C>G
ENST00000681548.1:c.*245C>G	ENSP00000505275.1:n.*245C>G
ENST00000681616.1:c.*368-3554C>G	ENSP00000505111.1:n.*368-3554C>G
ENST00000681621.1:c.*243C>G	ENSP00000505770.1:n.*243C>G
ENST00000681680.1:n.2754C>G
ENST00000681720.1:c.*114C>G	ENSP00000505438.1:n.*114C>G
ENST00000681730.1:n.881C>G
ENST00000681790.1:c.401C>G	ENSP00000505130.1:p.Thr134Ser
ENST00000681837.1:n.1275C>G
ENST00000681913.1:n.2783C>G
ENST00000681916.1:c.*427C>G	ENSP00000506477.1:n.*427C>G
ENST00000681930.1:n.2783C>G
ENST00000370834.9:c.758C>G	ENSP00000359871.5:p.Thr253Ser
ENST00000370841.8:c.659C>G	ENSP00000359878.4:p.Thr220Ser
ENST00000420607.6:c.671C>G	ENSP00000409612.2:p.Thr224Ser
ENST00000525808.5:c.*245C>G	ENSP00000434823.1:n.*245C>G
ENST00000526129.5:c.*443C>G	ENSP00000434092.1:n.*443C>G
ENST00000526196.5:c.*427C>G	ENSP00000431953.1:n.*427C>G
ENST00000526930.1:n.432C>G
ENST00000529059.5:n.568C>G
ENST00000530953.6:c.*156C>G	ENSP00000431372.1:n.*156C>G
ENST00000532207.5:n.389C>G
ENST00000532509.5:c.*423C>G	ENSP00000432522.1:n.*423C>G
ENST00000534334.5:c.*243C>G	ENSP00000435584.1:n.*243C>G
ENST00000541113.5:c.551C>G	ENSP00000442324.1:p.Thr184Ser
NM_000016.5:c.659C>G	NP_000007.1:p.Thr220Ser
NM_001127328.2:c.671C>G	NP_001120800.1:p.Thr224Ser
NM_001286042.1:c.551C>G	NP_001272971.1:p.Thr184Ser
NM_001286043.1:c.758C>G	NP_001272972.1:p.Thr253Ser
NM_001286044.1:c.92C>G	NP_001272973.1:p.Thr31Ser
NM_000016.6:c.659C>G MANE Select	NP_000007.1:p.Thr220Ser
NM_001127328.3:c.671C>G	NP_001120800.1:p.Thr224Ser
NM_001286042.2:c.551C>G	NP_001272971.1:p.Thr184Ser
NM_001286043.2:c.758C>G	NP_001272972.1:p.Thr253Ser
NM_001286044.2:c.92C>G	NP_001272973.1:p.Thr31Ser