Canonical Allele Identifier: CA340817958

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226863A>T (hg19) ; chr1:g.75761178A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761178A>T , CM000663.2:g.75761178A>T	GRCh38
NC_000001.10:g.76226863A>T , CM000663.1:g.76226863A>T	GRCh37
NC_000001.9:g.75999451A>T	NCBI36
NG_007045.2:g.41821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1002A>T MANE Select	ENSP00000359878.5:p.Arg334Ser
ENST00000473018.3:n.3126A>T
ENST00000532207.6:n.2013A>T
ENST00000541113.6:c.906A>T	ENSP00000442324.2:p.Arg302Ser
ENST00000679509.1:n.1964A>T
ENST00000679530.1:c.*770A>T	ENSP00000506454.1:n.*770A>T
ENST00000679615.1:n.3017A>T
ENST00000679687.1:c.564A>T	ENSP00000506598.1:p.Arg188Ser
ENST00000679704.1:c.*768A>T	ENSP00000505117.1:n.*768A>T
ENST00000679709.1:c.*965A>T	ENSP00000506623.1:n.*965A>T
ENST00000679976.1:c.*586A>T	ENSP00000505565.1:n.*586A>T
ENST00000680166.1:n.4291A>T
ENST00000680315.1:n.885A>T
ENST00000680517.1:c.*390A>T	ENSP00000505803.1:n.*390A>T
ENST00000680582.1:n.1964A>T
ENST00000680613.1:c.*495A>T	ENSP00000506114.1:n.*495A>T
ENST00000680662.1:c.*916A>T	ENSP00000505080.1:n.*916A>T
ENST00000680691.1:c.*665A>T	ENSP00000506487.1:n.*665A>T
ENST00000680694.1:c.*590A>T	ENSP00000505658.1:n.*590A>T
ENST00000680743.1:c.*791A>T	ENSP00000505073.1:n.*791A>T
ENST00000680749.1:c.*287A>T	ENSP00000505122.1:n.*287A>T
ENST00000680798.1:c.*477A>T	ENSP00000505670.1:n.*477A>T
ENST00000680805.1:c.861A>T	ENSP00000505447.1:p.Arg287Ser
ENST00000680844.1:c.*786A>T	ENSP00000506541.1:n.*786A>T
ENST00000680948.1:c.*869A>T	ENSP00000505441.1:n.*869A>T
ENST00000680964.1:c.*95A>T	ENSP00000505961.1:n.*95A>T
ENST00000681037.1:c.*2486A>T	ENSP00000506025.1:n.*2486A>T
ENST00000681063.1:c.*271A>T	ENSP00000506616.1:n.*271A>T
ENST00000681209.1:c.*657A>T	ENSP00000505877.1:n.*657A>T
ENST00000681278.1:n.1704A>T
ENST00000681289.1:n.4997A>T
ENST00000681361.1:c.*669A>T	ENSP00000506679.1:n.*669A>T
ENST00000681430.1:c.*95A>T	ENSP00000506301.1:n.*95A>T
ENST00000681446.1:c.*706A>T	ENSP00000506244.1:n.*706A>T
ENST00000681450.1:c.*673A>T	ENSP00000505660.1:n.*673A>T
ENST00000681548.1:c.*588A>T	ENSP00000505275.1:n.*588A>T
ENST00000681616.1:c.*661A>T	ENSP00000505111.1:n.*661A>T
ENST00000681621.1:c.*586A>T	ENSP00000505770.1:n.*586A>T
ENST00000681680.1:n.3097A>T
ENST00000681720.1:c.*457A>T	ENSP00000505438.1:n.*457A>T
ENST00000681730.1:n.1224A>T
ENST00000681790.1:c.744A>T	ENSP00000505130.1:p.Arg248Ser
ENST00000681837.1:n.1618A>T
ENST00000681913.1:n.3248A>T
ENST00000681916.1:c.*770A>T	ENSP00000506477.1:n.*770A>T
ENST00000681930.1:n.3126A>T
ENST00000370834.9:c.1101A>T	ENSP00000359871.5:p.Arg367Ser
ENST00000370841.8:c.1002A>T	ENSP00000359878.4:p.Arg334Ser
ENST00000420607.6:c.1014A>T	ENSP00000409612.2:p.Arg338Ser
ENST00000481374.1:n.275A>T
ENST00000525808.5:c.*588A>T	ENSP00000434823.1:n.*588A>T
ENST00000526129.5:c.*786A>T	ENSP00000434092.1:n.*786A>T
ENST00000526196.5:c.*770A>T	ENSP00000431953.1:n.*770A>T
ENST00000528016.1:c.160-7999A>T	ENSP00000434284.1:n.160-7999A>T
ENST00000529059.5:n.911A>T
ENST00000532207.5:n.732A>T
ENST00000534334.5:c.*743A>T	ENSP00000435584.1:n.*743A>T
ENST00000541113.5:c.894A>T	ENSP00000442324.1:p.Arg298Ser
NM_000016.5:c.1002A>T	NP_000007.1:p.Arg334Ser
NM_001127328.2:c.1014A>T	NP_001120800.1:p.Arg338Ser
NM_001286042.1:c.894A>T	NP_001272971.1:p.Arg298Ser
NM_001286043.1:c.1101A>T	NP_001272972.1:p.Arg367Ser
NM_001286044.1:c.435A>T	NP_001272973.1:p.Arg145Ser
NM_000016.6:c.1002A>T MANE Select	NP_000007.1:p.Arg334Ser
NM_001127328.3:c.1014A>T	NP_001120800.1:p.Arg338Ser
NM_001286042.2:c.894A>T	NP_001272971.1:p.Arg298Ser
NM_001286043.2:c.1101A>T	NP_001272972.1:p.Arg367Ser
NM_001286044.2:c.435A>T	NP_001272973.1:p.Arg145Ser