Canonical Allele Identifier: CA340815788

Gene: ACADM

Linked Data

• dbSNP Id: rs992092720
• gnomAD v2: 1-76211494-T-G
• gnomAD v4: 1-75745809-T-G
• MyVariant Identifiers: chr1:g.76211494T>G (hg19) ; chr1:g.75745809T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745809T>G , CM000663.2:g.75745809T>G	GRCh38
NC_000001.10:g.76211494T>G , CM000663.1:g.76211494T>G	GRCh37
NC_000001.9:g.75984082T>G	NCBI36
NG_007045.2:g.26452T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.603T>G MANE Select	ENSP00000359878.5:p.Tyr201Ter
ENST00000473018.3:n.2727T>G
ENST00000532207.6:n.1492T>G
ENST00000541113.6:c.603T>G	ENSP00000442324.2:p.Tyr201Ter
ENST00000679509.1:n.1565T>G
ENST00000679530.1:c.*371T>G	ENSP00000506454.1:n.*371T>G
ENST00000679615.1:n.2724-3610T>G
ENST00000679687.1:c.165T>G	ENSP00000506598.1:p.Tyr55Ter
ENST00000679704.1:c.*369T>G	ENSP00000505117.1:n.*369T>G
ENST00000679709.1:c.*566T>G	ENSP00000506623.1:n.*566T>G
ENST00000679976.1:c.*187T>G	ENSP00000505565.1:n.*187T>G
ENST00000680166.1:n.3892T>G
ENST00000680517.1:c.*97-3610T>G	ENSP00000505803.1:n.*97-3610T>G
ENST00000680582.1:n.1565T>G
ENST00000680613.1:c.600-26T>G	ENSP00000506114.1:n.600-26T>G
ENST00000680662.1:c.*517T>G	ENSP00000505080.1:n.*517T>G
ENST00000680691.1:c.*266T>G	ENSP00000506487.1:n.*266T>G
ENST00000680694.1:c.*191T>G	ENSP00000505658.1:n.*191T>G
ENST00000680743.1:c.*270T>G	ENSP00000505073.1:n.*270T>G
ENST00000680749.1:c.600-3610T>G	ENSP00000505122.1:n.600-3610T>G
ENST00000680798.1:c.*184-3610T>G	ENSP00000505670.1:n.*184-3610T>G
ENST00000680805.1:c.603T>G	ENSP00000505447.1:p.Tyr201Ter
ENST00000680844.1:c.*387T>G	ENSP00000506541.1:n.*387T>G
ENST00000680948.1:c.*470T>G	ENSP00000505441.1:n.*470T>G
ENST00000680964.1:c.603T>G	ENSP00000505961.1:p.Tyr201Ter
ENST00000681037.1:c.*2113-26T>G	ENSP00000506025.1:n.*2113-26T>G
ENST00000681063.1:c.600-4642T>G	ENSP00000506616.1:n.600-4642T>G
ENST00000681209.1:c.*364-3610T>G	ENSP00000505877.1:n.*364-3610T>G
ENST00000681278.1:n.960T>G
ENST00000681289.1:n.4598T>G
ENST00000681361.1:c.*270T>G	ENSP00000506679.1:n.*270T>G
ENST00000681430.1:c.603T>G	ENSP00000506301.1:p.Tyr201Ter
ENST00000681446.1:c.*185T>G	ENSP00000506244.1:n.*185T>G
ENST00000681450.1:c.*274T>G	ENSP00000505660.1:n.*274T>G
ENST00000681548.1:c.*189T>G	ENSP00000505275.1:n.*189T>G
ENST00000681616.1:c.*368-3610T>G	ENSP00000505111.1:n.*368-3610T>G
ENST00000681621.1:c.*187T>G	ENSP00000505770.1:n.*187T>G
ENST00000681680.1:n.2724-26T>G
ENST00000681720.1:c.*58T>G	ENSP00000505438.1:n.*58T>G
ENST00000681730.1:n.825T>G
ENST00000681790.1:c.345T>G	ENSP00000505130.1:p.Tyr115Ter
ENST00000681837.1:n.1219T>G
ENST00000681913.1:n.2727T>G
ENST00000681916.1:c.*371T>G	ENSP00000506477.1:n.*371T>G
ENST00000681930.1:n.2727T>G
ENST00000370834.9:c.702T>G	ENSP00000359871.5:p.Tyr234Ter
ENST00000370841.8:c.603T>G	ENSP00000359878.4:p.Tyr201Ter
ENST00000420607.6:c.615T>G	ENSP00000409612.2:p.Tyr205Ter
ENST00000525808.5:c.*189T>G	ENSP00000434823.1:n.*189T>G
ENST00000526129.5:c.*387T>G	ENSP00000434092.1:n.*387T>G
ENST00000526196.5:c.*371T>G	ENSP00000431953.1:n.*371T>G
ENST00000526930.1:n.376T>G
ENST00000529059.5:n.512T>G
ENST00000530953.6:c.*100T>G	ENSP00000431372.1:n.*100T>G
ENST00000532207.5:n.333T>G
ENST00000532509.5:c.*367T>G	ENSP00000432522.1:n.*367T>G
ENST00000534334.5:c.*187T>G	ENSP00000435584.1:n.*187T>G
ENST00000541113.5:c.495T>G	ENSP00000442324.1:p.Tyr165Ter
NM_000016.5:c.603T>G	NP_000007.1:p.Tyr201Ter
NM_001127328.2:c.615T>G	NP_001120800.1:p.Tyr205Ter
NM_001286042.1:c.495T>G	NP_001272971.1:p.Tyr165Ter
NM_001286043.1:c.702T>G	NP_001272972.1:p.Tyr234Ter
NM_001286044.1:c.36T>G	NP_001272973.1:p.Tyr12Ter
NM_000016.6:c.603T>G MANE Select	NP_000007.1:p.Tyr201Ter
NM_001127328.3:c.615T>G	NP_001120800.1:p.Tyr205Ter
NM_001286042.2:c.495T>G	NP_001272971.1:p.Tyr165Ter
NM_001286043.2:c.702T>G	NP_001272972.1:p.Tyr234Ter
NM_001286044.2:c.36T>G	NP_001272973.1:p.Tyr12Ter