Canonical Allele Identifier: CA340816803

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215228A>C (hg19) ; chr1:g.75749543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749543A>C , CM000663.2:g.75749543A>C	GRCh38
NC_000001.10:g.76215228A>C , CM000663.1:g.76215228A>C	GRCh37
NC_000001.9:g.75987816A>C	NCBI36
NG_007045.2:g.30186A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.833A>C MANE Select	ENSP00000359878.5:p.Asp278Ala
ENST00000473018.3:n.2957A>C
ENST00000532207.6:n.1722A>C
ENST00000541113.6:c.833A>C	ENSP00000442324.2:p.Asp278Ala
ENST00000679509.1:n.1795A>C
ENST00000679530.1:c.*601A>C	ENSP00000506454.1:n.*601A>C
ENST00000679615.1:n.2848A>C
ENST00000679687.1:c.395A>C	ENSP00000506598.1:p.Asp132Ala
ENST00000679704.1:c.*599A>C	ENSP00000505117.1:n.*599A>C
ENST00000679709.1:c.*796A>C	ENSP00000506623.1:n.*796A>C
ENST00000679976.1:c.*417A>C	ENSP00000505565.1:n.*417A>C
ENST00000680166.1:n.4122A>C
ENST00000680517.1:c.*221A>C	ENSP00000505803.1:n.*221A>C
ENST00000680582.1:n.1795A>C
ENST00000680613.1:c.*204A>C	ENSP00000506114.1:n.*204A>C
ENST00000680662.1:c.*747A>C	ENSP00000505080.1:n.*747A>C
ENST00000680691.1:c.*496A>C	ENSP00000506487.1:n.*496A>C
ENST00000680694.1:c.*421A>C	ENSP00000505658.1:n.*421A>C
ENST00000680743.1:c.*500A>C	ENSP00000505073.1:n.*500A>C
ENST00000680749.1:c.*118A>C	ENSP00000505122.1:n.*118A>C
ENST00000680798.1:c.*308A>C	ENSP00000505670.1:n.*308A>C
ENST00000680805.1:c.709-908A>C	ENSP00000505447.1:n.709-908A>C
ENST00000680844.1:c.*617A>C	ENSP00000506541.1:n.*617A>C
ENST00000680948.1:c.*700A>C	ENSP00000505441.1:n.*700A>C
ENST00000680964.1:c.833A>C	ENSP00000505961.1:p.Asp278Ala
ENST00000681037.1:c.*2317A>C	ENSP00000506025.1:n.*2317A>C
ENST00000681063.1:c.600-908A>C	ENSP00000506616.1:n.600-908A>C
ENST00000681209.1:c.*488A>C	ENSP00000505877.1:n.*488A>C
ENST00000681278.1:n.1190A>C
ENST00000681289.1:n.4828A>C
ENST00000681361.1:c.*500A>C	ENSP00000506679.1:n.*500A>C
ENST00000681430.1:c.833A>C	ENSP00000506301.1:p.Asp278Ala
ENST00000681446.1:c.*415A>C	ENSP00000506244.1:n.*415A>C
ENST00000681450.1:c.*504A>C	ENSP00000505660.1:n.*504A>C
ENST00000681548.1:c.*419A>C	ENSP00000505275.1:n.*419A>C
ENST00000681616.1:c.*492A>C	ENSP00000505111.1:n.*492A>C
ENST00000681621.1:c.*417A>C	ENSP00000505770.1:n.*417A>C
ENST00000681680.1:n.2928A>C
ENST00000681720.1:c.*288A>C	ENSP00000505438.1:n.*288A>C
ENST00000681730.1:n.1055A>C
ENST00000681790.1:c.575A>C	ENSP00000505130.1:p.Asp192Ala
ENST00000681837.1:n.1449A>C
ENST00000681913.1:n.2957A>C
ENST00000681916.1:c.*601A>C	ENSP00000506477.1:n.*601A>C
ENST00000681930.1:n.2957A>C
ENST00000370834.9:c.932A>C	ENSP00000359871.5:p.Asp311Ala
ENST00000370841.8:c.833A>C	ENSP00000359878.4:p.Asp278Ala
ENST00000420607.6:c.845A>C	ENSP00000409612.2:p.Asp282Ala
ENST00000525808.5:c.*419A>C	ENSP00000434823.1:n.*419A>C
ENST00000526129.5:c.*617A>C	ENSP00000434092.1:n.*617A>C
ENST00000526196.5:c.*601A>C	ENSP00000431953.1:n.*601A>C
ENST00000528016.1:c.47A>C	ENSP00000434284.1:p.Asp16Ala
ENST00000529059.5:n.742A>C
ENST00000532207.5:n.563A>C
ENST00000532509.5:c.*597A>C	ENSP00000432522.1:n.*597A>C
ENST00000534334.5:c.*417A>C	ENSP00000435584.1:n.*417A>C
ENST00000541113.5:c.725A>C	ENSP00000442324.1:p.Asp242Ala
NM_000016.5:c.833A>C	NP_000007.1:p.Asp278Ala
NM_001127328.2:c.845A>C	NP_001120800.1:p.Asp282Ala
NM_001286042.1:c.725A>C	NP_001272971.1:p.Asp242Ala
NM_001286043.1:c.932A>C	NP_001272972.1:p.Asp311Ala
NM_001286044.1:c.266A>C	NP_001272973.1:p.Asp89Ala
NM_000016.6:c.833A>C MANE Select	NP_000007.1:p.Asp278Ala
NM_001127328.3:c.845A>C	NP_001120800.1:p.Asp282Ala
NM_001286042.2:c.725A>C	NP_001272971.1:p.Asp242Ala
NM_001286043.2:c.932A>C	NP_001272972.1:p.Asp311Ala
NM_001286044.2:c.266A>C	NP_001272973.1:p.Asp89Ala