Canonical Allele Identifier: CA340814913

Gene: ACADM

Linked Data

• ClinVar Variation Id: 853833
• ClinVar RCV Id: RCV001058728
• dbSNP Id: rs1260394550
• gnomAD v4: 1-75740005-C-T
• MyVariant Identifiers: chr1:g.76205690C>T (hg19) ; chr1:g.75740005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740005C>T , CM000663.2:g.75740005C>T	GRCh38
NC_000001.10:g.76205690C>T , CM000663.1:g.76205690C>T	GRCh37
NC_000001.9:g.75978278C>T	NCBI36
NG_007045.2:g.20648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.494C>T MANE Select	ENSP00000359878.5:p.Ala165Val
ENST00000473018.3:n.2618C>T
ENST00000541113.6:c.494C>T	ENSP00000442324.2:p.Ala165Val
ENST00000679509.1:n.1456C>T
ENST00000679530.1:c.*262C>T	ENSP00000506454.1:n.*262C>T
ENST00000679615.1:n.2618C>T
ENST00000679687.1:c.56C>T	ENSP00000506598.1:p.Ala19Val
ENST00000679704.1:c.*260C>T	ENSP00000505117.1:n.*260C>T
ENST00000679709.1:c.*457C>T	ENSP00000506623.1:n.*457C>T
ENST00000679804.1:n.233C>T
ENST00000679976.1:c.*78C>T	ENSP00000505565.1:n.*78C>T
ENST00000680166.1:n.3783C>T
ENST00000680517.1:c.312C>T	ENSP00000505803.1:p.Ser104=
ENST00000680582.1:n.1456C>T
ENST00000680613.1:c.494C>T	ENSP00000506114.1:p.Ala165Val
ENST00000680662.1:c.*408C>T	ENSP00000505080.1:n.*408C>T
ENST00000680691.1:c.*157C>T	ENSP00000506487.1:n.*157C>T
ENST00000680694.1:c.*82C>T	ENSP00000505658.1:n.*82C>T
ENST00000680743.1:c.*161C>T	ENSP00000505073.1:n.*161C>T
ENST00000680749.1:c.494C>T	ENSP00000505122.1:p.Ala165Val
ENST00000680798.1:c.*78C>T	ENSP00000505670.1:n.*78C>T
ENST00000680805.1:c.494C>T	ENSP00000505447.1:p.Ala165Val
ENST00000680844.1:c.*278C>T	ENSP00000506541.1:n.*278C>T
ENST00000680948.1:c.*361C>T	ENSP00000505441.1:n.*361C>T
ENST00000680964.1:c.494C>T	ENSP00000505961.1:p.Ala165Val
ENST00000681037.1:c.494C>T	ENSP00000506025.1:p.Ala165Val
ENST00000681063.1:c.494C>T	ENSP00000506616.1:p.Ala165Val
ENST00000681209.1:c.*258C>T	ENSP00000505877.1:n.*258C>T
ENST00000681278.1:n.851C>T
ENST00000681289.1:n.851C>T
ENST00000681361.1:c.*161C>T	ENSP00000506679.1:n.*161C>T
ENST00000681430.1:c.494C>T	ENSP00000506301.1:p.Ala165Val
ENST00000681446.1:c.*76C>T	ENSP00000506244.1:n.*76C>T
ENST00000681450.1:c.*165C>T	ENSP00000505660.1:n.*165C>T
ENST00000681548.1:c.*80C>T	ENSP00000505275.1:n.*80C>T
ENST00000681616.1:c.*262C>T	ENSP00000505111.1:n.*262C>T
ENST00000681621.1:c.*78C>T	ENSP00000505770.1:n.*78C>T
ENST00000681680.1:n.2618C>T
ENST00000681720.1:c.*55-5801C>T	ENSP00000505438.1:n.*55-5801C>T
ENST00000681730.1:n.716C>T
ENST00000681790.1:c.236C>T	ENSP00000505130.1:p.Ala79Val
ENST00000681837.1:n.1110C>T
ENST00000681913.1:n.2618C>T
ENST00000681916.1:c.*262C>T	ENSP00000506477.1:n.*262C>T
ENST00000681930.1:n.2618C>T
ENST00000370834.9:c.593C>T	ENSP00000359871.5:p.Ala198Val
ENST00000370841.8:c.494C>T	ENSP00000359878.4:p.Ala165Val
ENST00000420607.6:c.506C>T	ENSP00000409612.2:p.Ala169Val
ENST00000525808.5:c.*80C>T	ENSP00000434823.1:n.*80C>T
ENST00000526129.5:c.*278C>T	ENSP00000434092.1:n.*278C>T
ENST00000526196.5:c.*262C>T	ENSP00000431953.1:n.*262C>T
ENST00000526930.1:n.267C>T
ENST00000529059.5:n.403C>T
ENST00000530953.6:c.144C>T	ENSP00000431372.1:p.Ser48=
ENST00000532509.5:c.*258C>T	ENSP00000432522.1:n.*258C>T
ENST00000534334.5:c.*78C>T	ENSP00000435584.1:n.*78C>T
ENST00000541113.5:c.386C>T	ENSP00000442324.1:p.Ala129Val
NM_000016.5:c.494C>T	NP_000007.1:p.Ala165Val
NM_001127328.2:c.506C>T	NP_001120800.1:p.Ala169Val
NM_001286042.1:c.386C>T	NP_001272971.1:p.Ala129Val
NM_001286043.1:c.593C>T	NP_001272972.1:p.Ala198Val
NM_001286044.1:c.-74C>T	NP_001272973.1:n.-74C>T
NM_000016.6:c.494C>T MANE Select	NP_000007.1:p.Ala165Val
NM_001127328.3:c.506C>T	NP_001120800.1:p.Ala169Val
NM_001286042.2:c.386C>T	NP_001272971.1:p.Ala129Val
NM_001286043.2:c.593C>T	NP_001272972.1:p.Ala198Val
NM_001286044.2:c.-74C>T	NP_001272973.1:n.-74C>T