Canonical Allele Identifier: CA340815422

Gene: ACADM

Linked Data

• dbSNP Id: rs778535261
• gnomAD v4: 1-75740093-C-G
• MyVariant Identifiers: chr1:g.76205778C>G (hg19) ; chr1:g.75740093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740093C>G , CM000663.2:g.75740093C>G	GRCh38
NC_000001.10:g.76205778C>G , CM000663.1:g.76205778C>G	GRCh37
NC_000001.9:g.75978366C>G	NCBI36
NG_007045.2:g.20736C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.582C>G MANE Select	ENSP00000359878.5:p.Asn194Lys
ENST00000473018.3:n.2706C>G
ENST00000541113.6:c.582C>G	ENSP00000442324.2:p.Asn194Lys
ENST00000679509.1:n.1544C>G
ENST00000679530.1:c.*350C>G	ENSP00000506454.1:n.*350C>G
ENST00000679615.1:n.2706C>G
ENST00000679687.1:c.144C>G	ENSP00000506598.1:p.Asn48Lys
ENST00000679704.1:c.*348C>G	ENSP00000505117.1:n.*348C>G
ENST00000679709.1:c.*545C>G	ENSP00000506623.1:n.*545C>G
ENST00000679804.1:n.321C>G
ENST00000679976.1:c.*166C>G	ENSP00000505565.1:n.*166C>G
ENST00000680166.1:n.3871C>G
ENST00000680517.1:c.*79C>G	ENSP00000505803.1:n.*79C>G
ENST00000680582.1:n.1544C>G
ENST00000680613.1:c.582C>G	ENSP00000506114.1:p.Asn194Lys
ENST00000680662.1:c.*496C>G	ENSP00000505080.1:n.*496C>G
ENST00000680691.1:c.*245C>G	ENSP00000506487.1:n.*245C>G
ENST00000680694.1:c.*170C>G	ENSP00000505658.1:n.*170C>G
ENST00000680743.1:c.*249C>G	ENSP00000505073.1:n.*249C>G
ENST00000680749.1:c.582C>G	ENSP00000505122.1:p.Asn194Lys
ENST00000680798.1:c.*166C>G	ENSP00000505670.1:n.*166C>G
ENST00000680805.1:c.582C>G	ENSP00000505447.1:p.Asn194Lys
ENST00000680844.1:c.*366C>G	ENSP00000506541.1:n.*366C>G
ENST00000680948.1:c.*449C>G	ENSP00000505441.1:n.*449C>G
ENST00000680964.1:c.582C>G	ENSP00000505961.1:p.Asn194Lys
ENST00000681037.1:c.582C>G	ENSP00000506025.1:p.Asn194Lys
ENST00000681063.1:c.582C>G	ENSP00000506616.1:p.Asn194Lys
ENST00000681209.1:c.*346C>G	ENSP00000505877.1:n.*346C>G
ENST00000681278.1:n.939C>G
ENST00000681289.1:n.939C>G
ENST00000681361.1:c.*249C>G	ENSP00000506679.1:n.*249C>G
ENST00000681430.1:c.582C>G	ENSP00000506301.1:p.Asn194Lys
ENST00000681446.1:c.*164C>G	ENSP00000506244.1:n.*164C>G
ENST00000681450.1:c.*253C>G	ENSP00000505660.1:n.*253C>G
ENST00000681548.1:c.*168C>G	ENSP00000505275.1:n.*168C>G
ENST00000681616.1:c.*350C>G	ENSP00000505111.1:n.*350C>G
ENST00000681621.1:c.*166C>G	ENSP00000505770.1:n.*166C>G
ENST00000681680.1:n.2706C>G
ENST00000681720.1:c.*55-5713C>G	ENSP00000505438.1:n.*55-5713C>G
ENST00000681730.1:n.804C>G
ENST00000681790.1:c.324C>G	ENSP00000505130.1:p.Asn108Lys
ENST00000681837.1:n.1198C>G
ENST00000681913.1:n.2706C>G
ENST00000681916.1:c.*350C>G	ENSP00000506477.1:n.*350C>G
ENST00000681930.1:n.2706C>G
ENST00000370834.9:c.681C>G	ENSP00000359871.5:p.Asn227Lys
ENST00000370841.8:c.582C>G	ENSP00000359878.4:p.Asn194Lys
ENST00000420607.6:c.594C>G	ENSP00000409612.2:p.Asn198Lys
ENST00000525808.5:c.*168C>G	ENSP00000434823.1:n.*168C>G
ENST00000526129.5:c.*366C>G	ENSP00000434092.1:n.*366C>G
ENST00000526196.5:c.*350C>G	ENSP00000431953.1:n.*350C>G
ENST00000526930.1:n.355C>G
ENST00000529059.5:n.491C>G
ENST00000530953.6:c.*79C>G	ENSP00000431372.1:n.*79C>G
ENST00000532509.5:c.*346C>G	ENSP00000432522.1:n.*346C>G
ENST00000534334.5:c.*166C>G	ENSP00000435584.1:n.*166C>G
ENST00000541113.5:c.474C>G	ENSP00000442324.1:p.Asn158Lys
NM_000016.5:c.582C>G	NP_000007.1:p.Asn194Lys
NM_001127328.2:c.594C>G	NP_001120800.1:p.Asn198Lys
NM_001286042.1:c.474C>G	NP_001272971.1:p.Asn158Lys
NM_001286043.1:c.681C>G	NP_001272972.1:p.Asn227Lys
NM_001286044.1:c.15C>G	NP_001272973.1:p.Asn5Lys
NM_000016.6:c.582C>G MANE Select	NP_000007.1:p.Asn194Lys
NM_001127328.3:c.594C>G	NP_001120800.1:p.Asn198Lys
NM_001286042.2:c.474C>G	NP_001272971.1:p.Asn158Lys
NM_001286043.2:c.681C>G	NP_001272972.1:p.Asn227Lys
NM_001286044.2:c.15C>G	NP_001272973.1:p.Asn5Lys