Canonical Allele Identifier: CA24631612

Gene: ACADM

Linked Data

• ClinVar Variation Id: 431984
• ClinVar RCV Id: RCV000498142 ; RCV001275858
• dbSNP Id: rs1022879056
• gnomAD v2: 1-76215168-C-T
• gnomAD v4: 1-75749483-C-T
• MyVariant Identifiers: chr1:g.76215168C>T (hg19) ; chr1:g.75749483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749483C>T , CM000663.2:g.75749483C>T	GRCh38
NC_000001.10:g.76215168C>T , CM000663.1:g.76215168C>T	GRCh37
NC_000001.9:g.75987756C>T	NCBI36
NG_007045.2:g.30126C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.773C>T MANE Select	ENSP00000359878.5:p.Pro258Leu
ENST00000473018.3:n.2897C>T
ENST00000532207.6:n.1662C>T
ENST00000541113.6:c.773C>T	ENSP00000442324.2:p.Pro258Leu
ENST00000679509.1:n.1735C>T
ENST00000679530.1:c.*541C>T	ENSP00000506454.1:n.*541C>T
ENST00000679615.1:n.2788C>T
ENST00000679687.1:c.335C>T	ENSP00000506598.1:p.Pro112Leu
ENST00000679704.1:c.*539C>T	ENSP00000505117.1:n.*539C>T
ENST00000679709.1:c.*736C>T	ENSP00000506623.1:n.*736C>T
ENST00000679976.1:c.*357C>T	ENSP00000505565.1:n.*357C>T
ENST00000680166.1:n.4062C>T
ENST00000680517.1:c.*161C>T	ENSP00000505803.1:n.*161C>T
ENST00000680582.1:n.1735C>T
ENST00000680613.1:c.*144C>T	ENSP00000506114.1:n.*144C>T
ENST00000680662.1:c.*687C>T	ENSP00000505080.1:n.*687C>T
ENST00000680691.1:c.*436C>T	ENSP00000506487.1:n.*436C>T
ENST00000680694.1:c.*361C>T	ENSP00000505658.1:n.*361C>T
ENST00000680743.1:c.*440C>T	ENSP00000505073.1:n.*440C>T
ENST00000680749.1:c.*58C>T	ENSP00000505122.1:n.*58C>T
ENST00000680798.1:c.*248C>T	ENSP00000505670.1:n.*248C>T
ENST00000680805.1:c.709-968C>T	ENSP00000505447.1:n.709-968C>T
ENST00000680844.1:c.*557C>T	ENSP00000506541.1:n.*557C>T
ENST00000680948.1:c.*640C>T	ENSP00000505441.1:n.*640C>T
ENST00000680964.1:c.773C>T	ENSP00000505961.1:p.Pro258Leu
ENST00000681037.1:c.*2257C>T	ENSP00000506025.1:n.*2257C>T
ENST00000681063.1:c.600-968C>T	ENSP00000506616.1:n.600-968C>T
ENST00000681209.1:c.*428C>T	ENSP00000505877.1:n.*428C>T
ENST00000681278.1:n.1130C>T
ENST00000681289.1:n.4768C>T
ENST00000681361.1:c.*440C>T	ENSP00000506679.1:n.*440C>T
ENST00000681430.1:c.773C>T	ENSP00000506301.1:p.Pro258Leu
ENST00000681446.1:c.*355C>T	ENSP00000506244.1:n.*355C>T
ENST00000681450.1:c.*444C>T	ENSP00000505660.1:n.*444C>T
ENST00000681548.1:c.*359C>T	ENSP00000505275.1:n.*359C>T
ENST00000681616.1:c.*432C>T	ENSP00000505111.1:n.*432C>T
ENST00000681621.1:c.*357C>T	ENSP00000505770.1:n.*357C>T
ENST00000681680.1:n.2868C>T
ENST00000681720.1:c.*228C>T	ENSP00000505438.1:n.*228C>T
ENST00000681730.1:n.995C>T
ENST00000681790.1:c.515C>T	ENSP00000505130.1:p.Pro172Leu
ENST00000681837.1:n.1389C>T
ENST00000681913.1:n.2897C>T
ENST00000681916.1:c.*541C>T	ENSP00000506477.1:n.*541C>T
ENST00000681930.1:n.2897C>T
ENST00000370834.9:c.872C>T	ENSP00000359871.5:p.Pro291Leu
ENST00000370841.8:c.773C>T	ENSP00000359878.4:p.Pro258Leu
ENST00000420607.6:c.785C>T	ENSP00000409612.2:p.Pro262Leu
ENST00000525808.5:c.*359C>T	ENSP00000434823.1:n.*359C>T
ENST00000526129.5:c.*557C>T	ENSP00000434092.1:n.*557C>T
ENST00000526196.5:c.*541C>T	ENSP00000431953.1:n.*541C>T
ENST00000526930.1:n.546C>T
ENST00000529059.5:n.682C>T
ENST00000530953.6:c.*270C>T	ENSP00000431372.1:n.*270C>T
ENST00000532207.5:n.503C>T
ENST00000532509.5:c.*537C>T	ENSP00000432522.1:n.*537C>T
ENST00000534334.5:c.*357C>T	ENSP00000435584.1:n.*357C>T
ENST00000541113.5:c.665C>T	ENSP00000442324.1:p.Pro222Leu
NM_000016.5:c.773C>T	NP_000007.1:p.Pro258Leu
NM_001127328.2:c.785C>T	NP_001120800.1:p.Pro262Leu
NM_001286042.1:c.665C>T	NP_001272971.1:p.Pro222Leu
NM_001286043.1:c.872C>T	NP_001272972.1:p.Pro291Leu
NM_001286044.1:c.206C>T	NP_001272973.1:p.Pro69Leu
NM_000016.6:c.773C>T MANE Select	NP_000007.1:p.Pro258Leu
NM_001127328.3:c.785C>T	NP_001120800.1:p.Pro262Leu
NM_001286042.2:c.665C>T	NP_001272971.1:p.Pro222Leu
NM_001286043.2:c.872C>T	NP_001272972.1:p.Pro291Leu
NM_001286044.2:c.206C>T	NP_001272973.1:p.Pro69Leu