Canonical Allele Identifier: CA340815310

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205750T>A (hg19) ; chr1:g.75740065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740065T>A , CM000663.2:g.75740065T>A	GRCh38
NC_000001.10:g.76205750T>A , CM000663.1:g.76205750T>A	GRCh37
NC_000001.9:g.75978338T>A	NCBI36
NG_007045.2:g.20708T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.554T>A MANE Select	ENSP00000359878.5:p.Ile185Asn
ENST00000473018.3:n.2678T>A
ENST00000541113.6:c.554T>A	ENSP00000442324.2:p.Ile185Asn
ENST00000679509.1:n.1516T>A
ENST00000679530.1:c.*322T>A	ENSP00000506454.1:n.*322T>A
ENST00000679615.1:n.2678T>A
ENST00000679687.1:c.116T>A	ENSP00000506598.1:p.Ile39Asn
ENST00000679704.1:c.*320T>A	ENSP00000505117.1:n.*320T>A
ENST00000679709.1:c.*517T>A	ENSP00000506623.1:n.*517T>A
ENST00000679804.1:n.293T>A
ENST00000679976.1:c.*138T>A	ENSP00000505565.1:n.*138T>A
ENST00000680166.1:n.3843T>A
ENST00000680517.1:c.*51T>A	ENSP00000505803.1:n.*51T>A
ENST00000680582.1:n.1516T>A
ENST00000680613.1:c.554T>A	ENSP00000506114.1:p.Ile185Asn
ENST00000680662.1:c.*468T>A	ENSP00000505080.1:n.*468T>A
ENST00000680691.1:c.*217T>A	ENSP00000506487.1:n.*217T>A
ENST00000680694.1:c.*142T>A	ENSP00000505658.1:n.*142T>A
ENST00000680743.1:c.*221T>A	ENSP00000505073.1:n.*221T>A
ENST00000680749.1:c.554T>A	ENSP00000505122.1:p.Ile185Asn
ENST00000680798.1:c.*138T>A	ENSP00000505670.1:n.*138T>A
ENST00000680805.1:c.554T>A	ENSP00000505447.1:p.Ile185Asn
ENST00000680844.1:c.*338T>A	ENSP00000506541.1:n.*338T>A
ENST00000680948.1:c.*421T>A	ENSP00000505441.1:n.*421T>A
ENST00000680964.1:c.554T>A	ENSP00000505961.1:p.Ile185Asn
ENST00000681037.1:c.554T>A	ENSP00000506025.1:p.Ile185Asn
ENST00000681063.1:c.554T>A	ENSP00000506616.1:p.Ile185Asn
ENST00000681209.1:c.*318T>A	ENSP00000505877.1:n.*318T>A
ENST00000681278.1:n.911T>A
ENST00000681289.1:n.911T>A
ENST00000681361.1:c.*221T>A	ENSP00000506679.1:n.*221T>A
ENST00000681430.1:c.554T>A	ENSP00000506301.1:p.Ile185Asn
ENST00000681446.1:c.*136T>A	ENSP00000506244.1:n.*136T>A
ENST00000681450.1:c.*225T>A	ENSP00000505660.1:n.*225T>A
ENST00000681548.1:c.*140T>A	ENSP00000505275.1:n.*140T>A
ENST00000681616.1:c.*322T>A	ENSP00000505111.1:n.*322T>A
ENST00000681621.1:c.*138T>A	ENSP00000505770.1:n.*138T>A
ENST00000681680.1:n.2678T>A
ENST00000681720.1:c.*55-5741T>A	ENSP00000505438.1:n.*55-5741T>A
ENST00000681730.1:n.776T>A
ENST00000681790.1:c.296T>A	ENSP00000505130.1:p.Ile99Asn
ENST00000681837.1:n.1170T>A
ENST00000681913.1:n.2678T>A
ENST00000681916.1:c.*322T>A	ENSP00000506477.1:n.*322T>A
ENST00000681930.1:n.2678T>A
ENST00000370834.9:c.653T>A	ENSP00000359871.5:p.Ile218Asn
ENST00000370841.8:c.554T>A	ENSP00000359878.4:p.Ile185Asn
ENST00000420607.6:c.566T>A	ENSP00000409612.2:p.Ile189Asn
ENST00000525808.5:c.*140T>A	ENSP00000434823.1:n.*140T>A
ENST00000526129.5:c.*338T>A	ENSP00000434092.1:n.*338T>A
ENST00000526196.5:c.*322T>A	ENSP00000431953.1:n.*322T>A
ENST00000526930.1:n.327T>A
ENST00000529059.5:n.463T>A
ENST00000530953.6:c.*51T>A	ENSP00000431372.1:n.*51T>A
ENST00000532509.5:c.*318T>A	ENSP00000432522.1:n.*318T>A
ENST00000534334.5:c.*138T>A	ENSP00000435584.1:n.*138T>A
ENST00000541113.5:c.446T>A	ENSP00000442324.1:p.Ile149Asn
NM_000016.5:c.554T>A	NP_000007.1:p.Ile185Asn
NM_001127328.2:c.566T>A	NP_001120800.1:p.Ile189Asn
NM_001286042.1:c.446T>A	NP_001272971.1:p.Ile149Asn
NM_001286043.1:c.653T>A	NP_001272972.1:p.Ile218Asn
NM_001286044.1:c.-14T>A	NP_001272973.1:n.-14T>A
NM_000016.6:c.554T>A MANE Select	NP_000007.1:p.Ile185Asn
NM_001127328.3:c.566T>A	NP_001120800.1:p.Ile189Asn
NM_001286042.2:c.446T>A	NP_001272971.1:p.Ile149Asn
NM_001286043.2:c.653T>A	NP_001272972.1:p.Ile218Asn
NM_001286044.2:c.-14T>A	NP_001272973.1:n.-14T>A