Canonical Allele Identifier: CA340818146

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226951A>C (hg19) ; chr1:g.75761266A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761266A>C , CM000663.2:g.75761266A>C	GRCh38
NC_000001.10:g.76226951A>C , CM000663.1:g.76226951A>C	GRCh37
NC_000001.9:g.75999539A>C	NCBI36
NG_007045.2:g.41909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1090A>C MANE Select	ENSP00000359878.5:p.Ile364Leu
ENST00000473018.3:n.3214A>C
ENST00000532207.6:n.2101A>C
ENST00000541113.6:c.994A>C	ENSP00000442324.2:p.Ile332Leu
ENST00000679509.1:n.2052A>C
ENST00000679530.1:c.*858A>C	ENSP00000506454.1:n.*858A>C
ENST00000679615.1:n.3105A>C
ENST00000679687.1:c.652A>C	ENSP00000506598.1:p.Ile218Leu
ENST00000679704.1:c.*856A>C	ENSP00000505117.1:n.*856A>C
ENST00000679709.1:c.*1053A>C	ENSP00000506623.1:n.*1053A>C
ENST00000679976.1:c.*674A>C	ENSP00000505565.1:n.*674A>C
ENST00000680166.1:n.4379A>C
ENST00000680315.1:n.973A>C
ENST00000680517.1:c.*478A>C	ENSP00000505803.1:n.*478A>C
ENST00000680582.1:n.2052A>C
ENST00000680613.1:c.*583A>C	ENSP00000506114.1:n.*583A>C
ENST00000680662.1:c.*1004A>C	ENSP00000505080.1:n.*1004A>C
ENST00000680691.1:c.*753A>C	ENSP00000506487.1:n.*753A>C
ENST00000680694.1:c.*678A>C	ENSP00000505658.1:n.*678A>C
ENST00000680743.1:c.*879A>C	ENSP00000505073.1:n.*879A>C
ENST00000680749.1:c.*375A>C	ENSP00000505122.1:n.*375A>C
ENST00000680798.1:c.*565A>C	ENSP00000505670.1:n.*565A>C
ENST00000680805.1:c.949A>C	ENSP00000505447.1:p.Ile317Leu
ENST00000680844.1:c.*874A>C	ENSP00000506541.1:n.*874A>C
ENST00000680948.1:c.*957A>C	ENSP00000505441.1:n.*957A>C
ENST00000680964.1:c.*183A>C	ENSP00000505961.1:n.*183A>C
ENST00000681037.1:c.*2574A>C	ENSP00000506025.1:n.*2574A>C
ENST00000681063.1:c.*359A>C	ENSP00000506616.1:n.*359A>C
ENST00000681209.1:c.*745A>C	ENSP00000505877.1:n.*745A>C
ENST00000681278.1:n.1792A>C
ENST00000681289.1:n.5085A>C
ENST00000681361.1:c.*757A>C	ENSP00000506679.1:n.*757A>C
ENST00000681430.1:c.*183A>C	ENSP00000506301.1:n.*183A>C
ENST00000681446.1:c.*794A>C	ENSP00000506244.1:n.*794A>C
ENST00000681450.1:c.*761A>C	ENSP00000505660.1:n.*761A>C
ENST00000681548.1:c.*676A>C	ENSP00000505275.1:n.*676A>C
ENST00000681616.1:c.*749A>C	ENSP00000505111.1:n.*749A>C
ENST00000681621.1:c.*674A>C	ENSP00000505770.1:n.*674A>C
ENST00000681680.1:n.3185A>C
ENST00000681720.1:c.*545A>C	ENSP00000505438.1:n.*545A>C
ENST00000681730.1:n.1312A>C
ENST00000681790.1:c.832A>C	ENSP00000505130.1:p.Ile278Leu
ENST00000681837.1:n.1706A>C
ENST00000681913.1:n.3336A>C
ENST00000681916.1:c.*858A>C	ENSP00000506477.1:n.*858A>C
ENST00000681930.1:n.3214A>C
ENST00000370834.9:c.1189A>C	ENSP00000359871.5:p.Ile397Leu
ENST00000370841.8:c.1090A>C	ENSP00000359878.4:p.Ile364Leu
ENST00000420607.6:c.1102A>C	ENSP00000409612.2:p.Ile368Leu
ENST00000481374.1:n.363A>C
ENST00000525808.5:c.*676A>C	ENSP00000434823.1:n.*676A>C
ENST00000526129.5:c.*874A>C	ENSP00000434092.1:n.*874A>C
ENST00000526196.5:c.*858A>C	ENSP00000431953.1:n.*858A>C
ENST00000528016.1:c.160-7911A>C	ENSP00000434284.1:n.160-7911A>C
ENST00000529059.5:n.999A>C
ENST00000541113.5:c.982A>C	ENSP00000442324.1:p.Ile328Leu
NM_000016.5:c.1090A>C	NP_000007.1:p.Ile364Leu
NM_001127328.2:c.1102A>C	NP_001120800.1:p.Ile368Leu
NM_001286042.1:c.982A>C	NP_001272971.1:p.Ile328Leu
NM_001286043.1:c.1189A>C	NP_001272972.1:p.Ile397Leu
NM_001286044.1:c.523A>C	NP_001272973.1:p.Ile175Leu
NM_000016.6:c.1090A>C MANE Select	NP_000007.1:p.Ile364Leu
NM_001127328.3:c.1102A>C	NP_001120800.1:p.Ile368Leu
NM_001286042.2:c.982A>C	NP_001272971.1:p.Ile328Leu
NM_001286043.2:c.1189A>C	NP_001272972.1:p.Ile397Leu
NM_001286044.2:c.523A>C	NP_001272973.1:p.Ile175Leu