Canonical Allele Identifier: CA418544799

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2821474
• ClinVar RCV Id: RCV003610303
• MyVariant Identifiers: chr1:g.76215133T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749448T>C , CM000663.2:g.75749448T>C	GRCh38
NC_000001.10:g.76215133T>C , CM000663.1:g.76215133T>C	GRCh37
NC_000001.9:g.75987721T>C	NCBI36
NG_007045.2:g.30091T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.738T>C MANE Select	ENSP00000359878.5:p.Asp246=
ENST00000473018.3:n.2862T>C
ENST00000532207.6:n.1627T>C
ENST00000541113.6:c.738T>C	ENSP00000442324.2:p.Asp246=
ENST00000679509.1:n.1700T>C
ENST00000679530.1:c.*506T>C	ENSP00000506454.1:n.*506T>C
ENST00000679615.1:n.2753T>C
ENST00000679687.1:c.300T>C	ENSP00000506598.1:p.Asp100=
ENST00000679704.1:c.*504T>C	ENSP00000505117.1:n.*504T>C
ENST00000679709.1:c.*701T>C	ENSP00000506623.1:n.*701T>C
ENST00000679976.1:c.*322T>C	ENSP00000505565.1:n.*322T>C
ENST00000680166.1:n.4027T>C
ENST00000680517.1:c.*126T>C	ENSP00000505803.1:n.*126T>C
ENST00000680582.1:n.1700T>C
ENST00000680613.1:c.*109T>C	ENSP00000506114.1:n.*109T>C
ENST00000680662.1:c.*652T>C	ENSP00000505080.1:n.*652T>C
ENST00000680691.1:c.*401T>C	ENSP00000506487.1:n.*401T>C
ENST00000680694.1:c.*326T>C	ENSP00000505658.1:n.*326T>C
ENST00000680743.1:c.*405T>C	ENSP00000505073.1:n.*405T>C
ENST00000680749.1:c.*23T>C	ENSP00000505122.1:n.*23T>C
ENST00000680798.1:c.*213T>C	ENSP00000505670.1:n.*213T>C
ENST00000680805.1:c.709-1003T>C	ENSP00000505447.1:n.709-1003T>C
ENST00000680844.1:c.*522T>C	ENSP00000506541.1:n.*522T>C
ENST00000680948.1:c.*605T>C	ENSP00000505441.1:n.*605T>C
ENST00000680964.1:c.738T>C	ENSP00000505961.1:p.Asp246=
ENST00000681037.1:c.*2222T>C	ENSP00000506025.1:n.*2222T>C
ENST00000681063.1:c.600-1003T>C	ENSP00000506616.1:n.600-1003T>C
ENST00000681209.1:c.*393T>C	ENSP00000505877.1:n.*393T>C
ENST00000681278.1:n.1095T>C
ENST00000681289.1:n.4733T>C
ENST00000681361.1:c.*405T>C	ENSP00000506679.1:n.*405T>C
ENST00000681430.1:c.738T>C	ENSP00000506301.1:p.Asp246=
ENST00000681446.1:c.*320T>C	ENSP00000506244.1:n.*320T>C
ENST00000681450.1:c.*409T>C	ENSP00000505660.1:n.*409T>C
ENST00000681548.1:c.*324T>C	ENSP00000505275.1:n.*324T>C
ENST00000681616.1:c.*397T>C	ENSP00000505111.1:n.*397T>C
ENST00000681621.1:c.*322T>C	ENSP00000505770.1:n.*322T>C
ENST00000681680.1:n.2833T>C
ENST00000681720.1:c.*193T>C	ENSP00000505438.1:n.*193T>C
ENST00000681730.1:n.960T>C
ENST00000681790.1:c.480T>C	ENSP00000505130.1:p.Asp160=
ENST00000681837.1:n.1354T>C
ENST00000681913.1:n.2862T>C
ENST00000681916.1:c.*506T>C	ENSP00000506477.1:n.*506T>C
ENST00000681930.1:n.2862T>C
ENST00000370834.9:c.837T>C	ENSP00000359871.5:p.Asp279=
ENST00000370841.8:c.738T>C	ENSP00000359878.4:p.Asp246=
ENST00000420607.6:c.750T>C	ENSP00000409612.2:p.Asp250=
ENST00000525808.5:c.*324T>C	ENSP00000434823.1:n.*324T>C
ENST00000526129.5:c.*522T>C	ENSP00000434092.1:n.*522T>C
ENST00000526196.5:c.*506T>C	ENSP00000431953.1:n.*506T>C
ENST00000526930.1:n.511T>C
ENST00000529059.5:n.647T>C
ENST00000530953.6:c.*235T>C	ENSP00000431372.1:n.*235T>C
ENST00000532207.5:n.468T>C
ENST00000532509.5:c.*502T>C	ENSP00000432522.1:n.*502T>C
ENST00000534334.5:c.*322T>C	ENSP00000435584.1:n.*322T>C
ENST00000541113.5:c.630T>C	ENSP00000442324.1:p.Asp210=
NM_000016.5:c.738T>C	NP_000007.1:p.Asp246=
NM_001127328.2:c.750T>C	NP_001120800.1:p.Asp250=
NM_001286042.1:c.630T>C	NP_001272971.1:p.Asp210=
NM_001286043.1:c.837T>C	NP_001272972.1:p.Asp279=
NM_001286044.1:c.171T>C	NP_001272973.1:p.Asp57=
NM_000016.6:c.738T>C MANE Select	NP_000007.1:p.Asp246=
NM_001127328.3:c.750T>C	NP_001120800.1:p.Asp250=
NM_001286042.2:c.630T>C	NP_001272971.1:p.Asp210=
NM_001286043.2:c.837T>C	NP_001272972.1:p.Asp279=
NM_001286044.2:c.171T>C	NP_001272973.1:p.Asp57=