Canonical Allele Identifier: CA340818050

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2149459
• ClinVar RCV Id: RCV003065491
• dbSNP Id: rs1178040502
• gnomAD v2: 1-76226904-G-A
• gnomAD v3: 1-75761219-G-A
• gnomAD v4: 1-75761219-G-A
• MyVariant Identifiers: chr1:g.76226904G>A (hg19) ; chr1:g.75761219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761219G>A , CM000663.2:g.75761219G>A	GRCh38
NC_000001.10:g.76226904G>A , CM000663.1:g.76226904G>A	GRCh37
NC_000001.9:g.75999492G>A	NCBI36
NG_007045.2:g.41862G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1043G>A MANE Select	ENSP00000359878.5:p.Arg348His
ENST00000473018.3:n.3167G>A
ENST00000532207.6:n.2054G>A
ENST00000541113.6:c.947G>A	ENSP00000442324.2:p.Arg316His
ENST00000679509.1:n.2005G>A
ENST00000679530.1:c.*811G>A	ENSP00000506454.1:n.*811G>A
ENST00000679615.1:n.3058G>A
ENST00000679687.1:c.605G>A	ENSP00000506598.1:p.Arg202His
ENST00000679704.1:c.*809G>A	ENSP00000505117.1:n.*809G>A
ENST00000679709.1:c.*1006G>A	ENSP00000506623.1:n.*1006G>A
ENST00000679976.1:c.*627G>A	ENSP00000505565.1:n.*627G>A
ENST00000680166.1:n.4332G>A
ENST00000680315.1:n.926G>A
ENST00000680517.1:c.*431G>A	ENSP00000505803.1:n.*431G>A
ENST00000680582.1:n.2005G>A
ENST00000680613.1:c.*536G>A	ENSP00000506114.1:n.*536G>A
ENST00000680662.1:c.*957G>A	ENSP00000505080.1:n.*957G>A
ENST00000680691.1:c.*706G>A	ENSP00000506487.1:n.*706G>A
ENST00000680694.1:c.*631G>A	ENSP00000505658.1:n.*631G>A
ENST00000680743.1:c.*832G>A	ENSP00000505073.1:n.*832G>A
ENST00000680749.1:c.*328G>A	ENSP00000505122.1:n.*328G>A
ENST00000680798.1:c.*518G>A	ENSP00000505670.1:n.*518G>A
ENST00000680805.1:c.902G>A	ENSP00000505447.1:p.Arg301His
ENST00000680844.1:c.*827G>A	ENSP00000506541.1:n.*827G>A
ENST00000680948.1:c.*910G>A	ENSP00000505441.1:n.*910G>A
ENST00000680964.1:c.*136G>A	ENSP00000505961.1:n.*136G>A
ENST00000681037.1:c.*2527G>A	ENSP00000506025.1:n.*2527G>A
ENST00000681063.1:c.*312G>A	ENSP00000506616.1:n.*312G>A
ENST00000681209.1:c.*698G>A	ENSP00000505877.1:n.*698G>A
ENST00000681278.1:n.1745G>A
ENST00000681289.1:n.5038G>A
ENST00000681361.1:c.*710G>A	ENSP00000506679.1:n.*710G>A
ENST00000681430.1:c.*136G>A	ENSP00000506301.1:n.*136G>A
ENST00000681446.1:c.*747G>A	ENSP00000506244.1:n.*747G>A
ENST00000681450.1:c.*714G>A	ENSP00000505660.1:n.*714G>A
ENST00000681548.1:c.*629G>A	ENSP00000505275.1:n.*629G>A
ENST00000681616.1:c.*702G>A	ENSP00000505111.1:n.*702G>A
ENST00000681621.1:c.*627G>A	ENSP00000505770.1:n.*627G>A
ENST00000681680.1:n.3138G>A
ENST00000681720.1:c.*498G>A	ENSP00000505438.1:n.*498G>A
ENST00000681730.1:n.1265G>A
ENST00000681790.1:c.785G>A	ENSP00000505130.1:p.Arg262His
ENST00000681837.1:n.1659G>A
ENST00000681913.1:n.3289G>A
ENST00000681916.1:c.*811G>A	ENSP00000506477.1:n.*811G>A
ENST00000681930.1:n.3167G>A
ENST00000370834.9:c.1142G>A	ENSP00000359871.5:p.Arg381His
ENST00000370841.8:c.1043G>A	ENSP00000359878.4:p.Arg348His
ENST00000420607.6:c.1055G>A	ENSP00000409612.2:p.Arg352His
ENST00000481374.1:n.316G>A
ENST00000525808.5:c.*629G>A	ENSP00000434823.1:n.*629G>A
ENST00000526129.5:c.*827G>A	ENSP00000434092.1:n.*827G>A
ENST00000526196.5:c.*811G>A	ENSP00000431953.1:n.*811G>A
ENST00000528016.1:c.160-7958G>A	ENSP00000434284.1:n.160-7958G>A
ENST00000529059.5:n.952G>A
ENST00000534334.5:c.*784G>A	ENSP00000435584.1:n.*784G>A
ENST00000541113.5:c.935G>A	ENSP00000442324.1:p.Arg312His
NM_000016.5:c.1043G>A	NP_000007.1:p.Arg348His
NM_001127328.2:c.1055G>A	NP_001120800.1:p.Arg352His
NM_001286042.1:c.935G>A	NP_001272971.1:p.Arg312His
NM_001286043.1:c.1142G>A	NP_001272972.1:p.Arg381His
NM_001286044.1:c.476G>A	NP_001272973.1:p.Arg159His
NM_000016.6:c.1043G>A MANE Select	NP_000007.1:p.Arg348His
NM_001127328.3:c.1055G>A	NP_001120800.1:p.Arg352His
NM_001286042.2:c.935G>A	NP_001272971.1:p.Arg312His
NM_001286043.2:c.1142G>A	NP_001272972.1:p.Arg381His
NM_001286044.2:c.476G>A	NP_001272973.1:p.Arg159His