Canonical Allele Identifier: CA913261

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2184507
• ClinVar RCV Id: RCV002603336
• dbSNP Id: rs200902176
• ExAC: 1:76226844 T / C
• gnomAD v2: 1-76226844-T-C
• gnomAD v3: 1-75761159-T-C
• gnomAD v4: 1-75761159-T-C
• MyVariant Identifiers: chr1:g.76226844T>C (hg19) ; chr1:g.76226844_76226845delinsCG (hg19) ; chr1:g.75761159T>C (hg38) ; chr1:g.75761159_75761160delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761159T>C , CM000663.2:g.75761159T>C	GRCh38
NC_000001.10:g.76226844T>C , CM000663.1:g.76226844T>C	GRCh37
NC_000001.9:g.75999432T>C	NCBI36
NG_007045.2:g.41802T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.983T>C MANE Select	ENSP00000359878.5:p.Met328Thr
ENST00000473018.3:n.3107T>C
ENST00000532207.6:n.1994T>C
ENST00000541113.6:c.887T>C	ENSP00000442324.2:p.Met296Thr
ENST00000679509.1:n.1945T>C
ENST00000679530.1:c.*751T>C	ENSP00000506454.1:n.*751T>C
ENST00000679615.1:n.2998T>C
ENST00000679687.1:c.545T>C	ENSP00000506598.1:p.Met182Thr
ENST00000679704.1:c.*749T>C	ENSP00000505117.1:n.*749T>C
ENST00000679709.1:c.*946T>C	ENSP00000506623.1:n.*946T>C
ENST00000679976.1:c.*567T>C	ENSP00000505565.1:n.*567T>C
ENST00000680166.1:n.4272T>C
ENST00000680315.1:n.866T>C
ENST00000680517.1:c.*371T>C	ENSP00000505803.1:n.*371T>C
ENST00000680582.1:n.1945T>C
ENST00000680613.1:c.*476T>C	ENSP00000506114.1:n.*476T>C
ENST00000680662.1:c.*897T>C	ENSP00000505080.1:n.*897T>C
ENST00000680691.1:c.*646T>C	ENSP00000506487.1:n.*646T>C
ENST00000680694.1:c.*571T>C	ENSP00000505658.1:n.*571T>C
ENST00000680743.1:c.*772T>C	ENSP00000505073.1:n.*772T>C
ENST00000680749.1:c.*268T>C	ENSP00000505122.1:n.*268T>C
ENST00000680798.1:c.*458T>C	ENSP00000505670.1:n.*458T>C
ENST00000680805.1:c.842T>C	ENSP00000505447.1:p.Met281Thr
ENST00000680844.1:c.*767T>C	ENSP00000506541.1:n.*767T>C
ENST00000680948.1:c.*850T>C	ENSP00000505441.1:n.*850T>C
ENST00000680964.1:c.*76T>C	ENSP00000505961.1:n.*76T>C
ENST00000681037.1:c.*2467T>C	ENSP00000506025.1:n.*2467T>C
ENST00000681063.1:c.*252T>C	ENSP00000506616.1:n.*252T>C
ENST00000681209.1:c.*638T>C	ENSP00000505877.1:n.*638T>C
ENST00000681278.1:n.1685T>C
ENST00000681289.1:n.4978T>C
ENST00000681361.1:c.*650T>C	ENSP00000506679.1:n.*650T>C
ENST00000681430.1:c.*76T>C	ENSP00000506301.1:n.*76T>C
ENST00000681446.1:c.*687T>C	ENSP00000506244.1:n.*687T>C
ENST00000681450.1:c.*654T>C	ENSP00000505660.1:n.*654T>C
ENST00000681548.1:c.*569T>C	ENSP00000505275.1:n.*569T>C
ENST00000681616.1:c.*642T>C	ENSP00000505111.1:n.*642T>C
ENST00000681621.1:c.*567T>C	ENSP00000505770.1:n.*567T>C
ENST00000681680.1:n.3078T>C
ENST00000681720.1:c.*438T>C	ENSP00000505438.1:n.*438T>C
ENST00000681730.1:n.1205T>C
ENST00000681790.1:c.725T>C	ENSP00000505130.1:p.Met242Thr
ENST00000681837.1:n.1599T>C
ENST00000681913.1:n.3229T>C
ENST00000681916.1:c.*751T>C	ENSP00000506477.1:n.*751T>C
ENST00000681930.1:n.3107T>C
ENST00000370834.9:c.1082T>C	ENSP00000359871.5:p.Met361Thr
ENST00000370841.8:c.983T>C	ENSP00000359878.4:p.Met328Thr
ENST00000420607.6:c.995T>C	ENSP00000409612.2:p.Met332Thr
ENST00000481374.1:n.256T>C
ENST00000525808.5:c.*569T>C	ENSP00000434823.1:n.*569T>C
ENST00000526129.5:c.*767T>C	ENSP00000434092.1:n.*767T>C
ENST00000526196.5:c.*751T>C	ENSP00000431953.1:n.*751T>C
ENST00000528016.1:c.160-8018T>C	ENSP00000434284.1:n.160-8018T>C
ENST00000529059.5:n.892T>C
ENST00000532207.5:n.713T>C
ENST00000534334.5:c.*724T>C	ENSP00000435584.1:n.*724T>C
ENST00000541113.5:c.875T>C	ENSP00000442324.1:p.Met292Thr
NM_000016.5:c.983T>C	NP_000007.1:p.Met328Thr
NM_001127328.2:c.995T>C	NP_001120800.1:p.Met332Thr
NM_001286042.1:c.875T>C	NP_001272971.1:p.Met292Thr
NM_001286043.1:c.1082T>C	NP_001272972.1:p.Met361Thr
NM_001286044.1:c.416T>C	NP_001272973.1:p.Met139Thr
NM_000016.6:c.983T>C MANE Select	NP_000007.1:p.Met328Thr
NM_001127328.3:c.995T>C	NP_001120800.1:p.Met332Thr
NM_001286042.2:c.875T>C	NP_001272971.1:p.Met292Thr
NM_001286043.2:c.1082T>C	NP_001272972.1:p.Met361Thr
NM_001286044.2:c.416T>C	NP_001272973.1:p.Met139Thr