Canonical Allele Identifier: CA340817915

Gene: ACADM

Linked Data

• ClinVar Variation Id: 859269
• ClinVar RCV Id: RCV001065338
• dbSNP Id: rs1648825926
• gnomAD v4: 1-75761158-A-G
• MyVariant Identifiers: chr1:g.76226843A>G (hg19) ; chr1:g.75761158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761158A>G , CM000663.2:g.75761158A>G	GRCh38
NC_000001.10:g.76226843A>G , CM000663.1:g.76226843A>G	GRCh37
NC_000001.9:g.75999431A>G	NCBI36
NG_007045.2:g.41801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.982A>G MANE Select	ENSP00000359878.5:p.Met328Val
ENST00000473018.3:n.3106A>G
ENST00000532207.6:n.1993A>G
ENST00000541113.6:c.886A>G	ENSP00000442324.2:p.Met296Val
ENST00000679509.1:n.1944A>G
ENST00000679530.1:c.*750A>G	ENSP00000506454.1:n.*750A>G
ENST00000679615.1:n.2997A>G
ENST00000679687.1:c.544A>G	ENSP00000506598.1:p.Met182Val
ENST00000679704.1:c.*748A>G	ENSP00000505117.1:n.*748A>G
ENST00000679709.1:c.*945A>G	ENSP00000506623.1:n.*945A>G
ENST00000679976.1:c.*566A>G	ENSP00000505565.1:n.*566A>G
ENST00000680166.1:n.4271A>G
ENST00000680315.1:n.865A>G
ENST00000680517.1:c.*370A>G	ENSP00000505803.1:n.*370A>G
ENST00000680582.1:n.1944A>G
ENST00000680613.1:c.*475A>G	ENSP00000506114.1:n.*475A>G
ENST00000680662.1:c.*896A>G	ENSP00000505080.1:n.*896A>G
ENST00000680691.1:c.*645A>G	ENSP00000506487.1:n.*645A>G
ENST00000680694.1:c.*570A>G	ENSP00000505658.1:n.*570A>G
ENST00000680743.1:c.*771A>G	ENSP00000505073.1:n.*771A>G
ENST00000680749.1:c.*267A>G	ENSP00000505122.1:n.*267A>G
ENST00000680798.1:c.*457A>G	ENSP00000505670.1:n.*457A>G
ENST00000680805.1:c.841A>G	ENSP00000505447.1:p.Met281Val
ENST00000680844.1:c.*766A>G	ENSP00000506541.1:n.*766A>G
ENST00000680948.1:c.*849A>G	ENSP00000505441.1:n.*849A>G
ENST00000680964.1:c.*75A>G	ENSP00000505961.1:n.*75A>G
ENST00000681037.1:c.*2466A>G	ENSP00000506025.1:n.*2466A>G
ENST00000681063.1:c.*251A>G	ENSP00000506616.1:n.*251A>G
ENST00000681209.1:c.*637A>G	ENSP00000505877.1:n.*637A>G
ENST00000681278.1:n.1684A>G
ENST00000681289.1:n.4977A>G
ENST00000681361.1:c.*649A>G	ENSP00000506679.1:n.*649A>G
ENST00000681430.1:c.*75A>G	ENSP00000506301.1:n.*75A>G
ENST00000681446.1:c.*686A>G	ENSP00000506244.1:n.*686A>G
ENST00000681450.1:c.*653A>G	ENSP00000505660.1:n.*653A>G
ENST00000681548.1:c.*568A>G	ENSP00000505275.1:n.*568A>G
ENST00000681616.1:c.*641A>G	ENSP00000505111.1:n.*641A>G
ENST00000681621.1:c.*566A>G	ENSP00000505770.1:n.*566A>G
ENST00000681680.1:n.3077A>G
ENST00000681720.1:c.*437A>G	ENSP00000505438.1:n.*437A>G
ENST00000681730.1:n.1204A>G
ENST00000681790.1:c.724A>G	ENSP00000505130.1:p.Met242Val
ENST00000681837.1:n.1598A>G
ENST00000681913.1:n.3228A>G
ENST00000681916.1:c.*750A>G	ENSP00000506477.1:n.*750A>G
ENST00000681930.1:n.3106A>G
ENST00000370834.9:c.1081A>G	ENSP00000359871.5:p.Met361Val
ENST00000370841.8:c.982A>G	ENSP00000359878.4:p.Met328Val
ENST00000420607.6:c.994A>G	ENSP00000409612.2:p.Met332Val
ENST00000481374.1:n.255A>G
ENST00000525808.5:c.*568A>G	ENSP00000434823.1:n.*568A>G
ENST00000526129.5:c.*766A>G	ENSP00000434092.1:n.*766A>G
ENST00000526196.5:c.*750A>G	ENSP00000431953.1:n.*750A>G
ENST00000528016.1:c.160-8019A>G	ENSP00000434284.1:n.160-8019A>G
ENST00000529059.5:n.891A>G
ENST00000532207.5:n.712A>G
ENST00000534334.5:c.*723A>G	ENSP00000435584.1:n.*723A>G
ENST00000541113.5:c.874A>G	ENSP00000442324.1:p.Met292Val
NM_000016.5:c.982A>G	NP_000007.1:p.Met328Val
NM_001127328.2:c.994A>G	NP_001120800.1:p.Met332Val
NM_001286042.1:c.874A>G	NP_001272971.1:p.Met292Val
NM_001286043.1:c.1081A>G	NP_001272972.1:p.Met361Val
NM_001286044.1:c.415A>G	NP_001272973.1:p.Met139Val
NM_000016.6:c.982A>G MANE Select	NP_000007.1:p.Met328Val
NM_001127328.3:c.994A>G	NP_001120800.1:p.Met332Val
NM_001286042.2:c.874A>G	NP_001272971.1:p.Met292Val
NM_001286043.2:c.1081A>G	NP_001272972.1:p.Met361Val
NM_001286044.2:c.415A>G	NP_001272973.1:p.Met139Val