Canonical Allele Identifier: CA24631590

Gene: ACADM

Linked Data

• dbSNP Id: rs1052855363
• gnomAD v2: 1-76215147-T-C
• gnomAD v3: 1-75749462-T-C
• gnomAD v4: 1-75749462-T-C
• MyVariant Identifiers: chr1:g.76215147T>C (hg19) ; chr1:g.75749462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749462T>C , CM000663.2:g.75749462T>C	GRCh38
NC_000001.10:g.76215147T>C , CM000663.1:g.76215147T>C	GRCh37
NC_000001.9:g.75987735T>C	NCBI36
NG_007045.2:g.30105T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.752T>C MANE Select	ENSP00000359878.5:p.Val251Ala
ENST00000473018.3:n.2876T>C
ENST00000532207.6:n.1641T>C
ENST00000541113.6:c.752T>C	ENSP00000442324.2:p.Val251Ala
ENST00000679509.1:n.1714T>C
ENST00000679530.1:c.*520T>C	ENSP00000506454.1:n.*520T>C
ENST00000679615.1:n.2767T>C
ENST00000679687.1:c.314T>C	ENSP00000506598.1:p.Val105Ala
ENST00000679704.1:c.*518T>C	ENSP00000505117.1:n.*518T>C
ENST00000679709.1:c.*715T>C	ENSP00000506623.1:n.*715T>C
ENST00000679976.1:c.*336T>C	ENSP00000505565.1:n.*336T>C
ENST00000680166.1:n.4041T>C
ENST00000680517.1:c.*140T>C	ENSP00000505803.1:n.*140T>C
ENST00000680582.1:n.1714T>C
ENST00000680613.1:c.*123T>C	ENSP00000506114.1:n.*123T>C
ENST00000680662.1:c.*666T>C	ENSP00000505080.1:n.*666T>C
ENST00000680691.1:c.*415T>C	ENSP00000506487.1:n.*415T>C
ENST00000680694.1:c.*340T>C	ENSP00000505658.1:n.*340T>C
ENST00000680743.1:c.*419T>C	ENSP00000505073.1:n.*419T>C
ENST00000680749.1:c.*37T>C	ENSP00000505122.1:n.*37T>C
ENST00000680798.1:c.*227T>C	ENSP00000505670.1:n.*227T>C
ENST00000680805.1:c.709-989T>C	ENSP00000505447.1:n.709-989T>C
ENST00000680844.1:c.*536T>C	ENSP00000506541.1:n.*536T>C
ENST00000680948.1:c.*619T>C	ENSP00000505441.1:n.*619T>C
ENST00000680964.1:c.752T>C	ENSP00000505961.1:p.Val251Ala
ENST00000681037.1:c.*2236T>C	ENSP00000506025.1:n.*2236T>C
ENST00000681063.1:c.600-989T>C	ENSP00000506616.1:n.600-989T>C
ENST00000681209.1:c.*407T>C	ENSP00000505877.1:n.*407T>C
ENST00000681278.1:n.1109T>C
ENST00000681289.1:n.4747T>C
ENST00000681361.1:c.*419T>C	ENSP00000506679.1:n.*419T>C
ENST00000681430.1:c.752T>C	ENSP00000506301.1:p.Val251Ala
ENST00000681446.1:c.*334T>C	ENSP00000506244.1:n.*334T>C
ENST00000681450.1:c.*423T>C	ENSP00000505660.1:n.*423T>C
ENST00000681548.1:c.*338T>C	ENSP00000505275.1:n.*338T>C
ENST00000681616.1:c.*411T>C	ENSP00000505111.1:n.*411T>C
ENST00000681621.1:c.*336T>C	ENSP00000505770.1:n.*336T>C
ENST00000681680.1:n.2847T>C
ENST00000681720.1:c.*207T>C	ENSP00000505438.1:n.*207T>C
ENST00000681730.1:n.974T>C
ENST00000681790.1:c.494T>C	ENSP00000505130.1:p.Val165Ala
ENST00000681837.1:n.1368T>C
ENST00000681913.1:n.2876T>C
ENST00000681916.1:c.*520T>C	ENSP00000506477.1:n.*520T>C
ENST00000681930.1:n.2876T>C
ENST00000370834.9:c.851T>C	ENSP00000359871.5:p.Val284Ala
ENST00000370841.8:c.752T>C	ENSP00000359878.4:p.Val251Ala
ENST00000420607.6:c.764T>C	ENSP00000409612.2:p.Val255Ala
ENST00000525808.5:c.*338T>C	ENSP00000434823.1:n.*338T>C
ENST00000526129.5:c.*536T>C	ENSP00000434092.1:n.*536T>C
ENST00000526196.5:c.*520T>C	ENSP00000431953.1:n.*520T>C
ENST00000526930.1:n.525T>C
ENST00000529059.5:n.661T>C
ENST00000530953.6:c.*249T>C	ENSP00000431372.1:n.*249T>C
ENST00000532207.5:n.482T>C
ENST00000532509.5:c.*516T>C	ENSP00000432522.1:n.*516T>C
ENST00000534334.5:c.*336T>C	ENSP00000435584.1:n.*336T>C
ENST00000541113.5:c.644T>C	ENSP00000442324.1:p.Val215Ala
NM_000016.5:c.752T>C	NP_000007.1:p.Val251Ala
NM_001127328.2:c.764T>C	NP_001120800.1:p.Val255Ala
NM_001286042.1:c.644T>C	NP_001272971.1:p.Val215Ala
NM_001286043.1:c.851T>C	NP_001272972.1:p.Val284Ala
NM_001286044.1:c.185T>C	NP_001272973.1:p.Val62Ala
NM_000016.6:c.752T>C MANE Select	NP_000007.1:p.Val251Ala
NM_001127328.3:c.764T>C	NP_001120800.1:p.Val255Ala
NM_001286042.2:c.644T>C	NP_001272971.1:p.Val215Ala
NM_001286043.2:c.851T>C	NP_001272972.1:p.Val284Ala
NM_001286044.2:c.185T>C	NP_001272973.1:p.Val62Ala