Canonical Allele Identifier: CA24632043

Gene: ACADM

Linked Data

• ClinVar Variation Id: 875360
• ClinVar RCV Id: RCV001099148
• dbSNP Id: rs771550655
• gnomAD v2: 1-76216213-C-T
• gnomAD v3: 1-75750528-C-T
• gnomAD v4: 1-75750528-C-T
• MyVariant Identifiers: chr1:g.76216213C>T (hg19) ; chr1:g.75750528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750528C>T , CM000663.2:g.75750528C>T	GRCh38
NC_000001.10:g.76216213C>T , CM000663.1:g.76216213C>T	GRCh37
NC_000001.9:g.75988801C>T	NCBI36
NG_007045.2:g.31171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.927C>T MANE Select	ENSP00000359878.5:p.Phe309=
ENST00000473018.3:n.3051C>T
ENST00000532207.6:n.1816C>T
ENST00000541113.6:c.849+969C>T	ENSP00000442324.2:n.849+969C>T
ENST00000679509.1:n.1889C>T
ENST00000679530.1:c.*695C>T	ENSP00000506454.1:n.*695C>T
ENST00000679615.1:n.2942C>T
ENST00000679687.1:c.489C>T	ENSP00000506598.1:p.Phe163=
ENST00000679704.1:c.*693C>T	ENSP00000505117.1:n.*693C>T
ENST00000679709.1:c.*890C>T	ENSP00000506623.1:n.*890C>T
ENST00000679976.1:c.*511C>T	ENSP00000505565.1:n.*511C>T
ENST00000680166.1:n.4216C>T
ENST00000680315.1:n.810C>T
ENST00000680517.1:c.*315C>T	ENSP00000505803.1:n.*315C>T
ENST00000680582.1:n.1889C>T
ENST00000680613.1:c.*298C>T	ENSP00000506114.1:n.*298C>T
ENST00000680662.1:c.*841C>T	ENSP00000505080.1:n.*841C>T
ENST00000680691.1:c.*590C>T	ENSP00000506487.1:n.*590C>T
ENST00000680694.1:c.*515C>T	ENSP00000505658.1:n.*515C>T
ENST00000680743.1:c.*594C>T	ENSP00000505073.1:n.*594C>T
ENST00000680749.1:c.*212C>T	ENSP00000505122.1:n.*212C>T
ENST00000680798.1:c.*402C>T	ENSP00000505670.1:n.*402C>T
ENST00000680805.1:c.786C>T	ENSP00000505447.1:p.Phe262=
ENST00000680844.1:c.*711C>T	ENSP00000506541.1:n.*711C>T
ENST00000680948.1:c.*794C>T	ENSP00000505441.1:n.*794C>T
ENST00000680964.1:c.927C>T	ENSP00000505961.1:p.Phe309=
ENST00000681037.1:c.*2411C>T	ENSP00000506025.1:n.*2411C>T
ENST00000681063.1:c.*74C>T	ENSP00000506616.1:n.*74C>T
ENST00000681209.1:c.*582C>T	ENSP00000505877.1:n.*582C>T
ENST00000681278.1:n.1284C>T
ENST00000681289.1:n.4922C>T
ENST00000681361.1:c.*594C>T	ENSP00000506679.1:n.*594C>T
ENST00000681430.1:c.927C>T	ENSP00000506301.1:p.Phe309=
ENST00000681446.1:c.*509C>T	ENSP00000506244.1:n.*509C>T
ENST00000681450.1:c.*598C>T	ENSP00000505660.1:n.*598C>T
ENST00000681548.1:c.*513C>T	ENSP00000505275.1:n.*513C>T
ENST00000681616.1:c.*586C>T	ENSP00000505111.1:n.*586C>T
ENST00000681621.1:c.*511C>T	ENSP00000505770.1:n.*511C>T
ENST00000681680.1:n.3022C>T
ENST00000681720.1:c.*382C>T	ENSP00000505438.1:n.*382C>T
ENST00000681730.1:n.1149C>T
ENST00000681790.1:c.669C>T	ENSP00000505130.1:p.Phe223=
ENST00000681837.1:n.1543C>T
ENST00000681913.1:n.3051C>T
ENST00000681916.1:c.*695C>T	ENSP00000506477.1:n.*695C>T
ENST00000681930.1:n.3051C>T
ENST00000370834.9:c.1026C>T	ENSP00000359871.5:p.Phe342=
ENST00000370841.8:c.927C>T	ENSP00000359878.4:p.Phe309=
ENST00000420607.6:c.939C>T	ENSP00000409612.2:p.Phe313=
ENST00000481374.1:n.78C>T
ENST00000525808.5:c.*513C>T	ENSP00000434823.1:n.*513C>T
ENST00000526129.5:c.*711C>T	ENSP00000434092.1:n.*711C>T
ENST00000526196.5:c.*695C>T	ENSP00000431953.1:n.*695C>T
ENST00000528016.1:c.141C>T	ENSP00000434284.1:p.Phe47=
ENST00000529059.5:n.836C>T
ENST00000532207.5:n.657C>T
ENST00000534334.5:c.*511C>T	ENSP00000435584.1:n.*511C>T
ENST00000541113.5:c.819C>T	ENSP00000442324.1:p.Phe273=
NM_000016.5:c.927C>T	NP_000007.1:p.Phe309=
NM_001127328.2:c.939C>T	NP_001120800.1:p.Phe313=
NM_001286042.1:c.819C>T	NP_001272971.1:p.Phe273=
NM_001286043.1:c.1026C>T	NP_001272972.1:p.Phe342=
NM_001286044.1:c.360C>T	NP_001272973.1:p.Phe120=
NM_000016.6:c.927C>T MANE Select	NP_000007.1:p.Phe309=
NM_001127328.3:c.939C>T	NP_001120800.1:p.Phe313=
NM_001286042.2:c.819C>T	NP_001272971.1:p.Phe273=
NM_001286043.2:c.1026C>T	NP_001272972.1:p.Phe342=
NM_001286044.2:c.360C>T	NP_001272973.1:p.Phe120=