Canonical Allele Identifier: CA340817062

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216181G>T (hg19) ; chr1:g.75750496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750496G>T , CM000663.2:g.75750496G>T	GRCh38
NC_000001.10:g.76216181G>T , CM000663.1:g.76216181G>T	GRCh37
NC_000001.9:g.75988769G>T	NCBI36
NG_007045.2:g.31139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.895G>T MANE Select	ENSP00000359878.5:p.Ala299Ser
ENST00000473018.3:n.3019G>T
ENST00000532207.6:n.1784G>T
ENST00000541113.6:c.849+937G>T	ENSP00000442324.2:n.849+937G>T
ENST00000679509.1:n.1857G>T
ENST00000679530.1:c.*663G>T	ENSP00000506454.1:n.*663G>T
ENST00000679615.1:n.2910G>T
ENST00000679687.1:c.457G>T	ENSP00000506598.1:p.Ala153Ser
ENST00000679704.1:c.*661G>T	ENSP00000505117.1:n.*661G>T
ENST00000679709.1:c.*858G>T	ENSP00000506623.1:n.*858G>T
ENST00000679976.1:c.*479G>T	ENSP00000505565.1:n.*479G>T
ENST00000680166.1:n.4184G>T
ENST00000680315.1:n.778G>T
ENST00000680517.1:c.*283G>T	ENSP00000505803.1:n.*283G>T
ENST00000680582.1:n.1857G>T
ENST00000680613.1:c.*266G>T	ENSP00000506114.1:n.*266G>T
ENST00000680662.1:c.*809G>T	ENSP00000505080.1:n.*809G>T
ENST00000680691.1:c.*558G>T	ENSP00000506487.1:n.*558G>T
ENST00000680694.1:c.*483G>T	ENSP00000505658.1:n.*483G>T
ENST00000680743.1:c.*562G>T	ENSP00000505073.1:n.*562G>T
ENST00000680749.1:c.*180G>T	ENSP00000505122.1:n.*180G>T
ENST00000680798.1:c.*370G>T	ENSP00000505670.1:n.*370G>T
ENST00000680805.1:c.754G>T	ENSP00000505447.1:p.Ala252Ser
ENST00000680844.1:c.*679G>T	ENSP00000506541.1:n.*679G>T
ENST00000680948.1:c.*762G>T	ENSP00000505441.1:n.*762G>T
ENST00000680964.1:c.895G>T	ENSP00000505961.1:p.Ala299Ser
ENST00000681037.1:c.*2379G>T	ENSP00000506025.1:n.*2379G>T
ENST00000681063.1:c.*42G>T	ENSP00000506616.1:n.*42G>T
ENST00000681209.1:c.*550G>T	ENSP00000505877.1:n.*550G>T
ENST00000681278.1:n.1252G>T
ENST00000681289.1:n.4890G>T
ENST00000681361.1:c.*562G>T	ENSP00000506679.1:n.*562G>T
ENST00000681430.1:c.895G>T	ENSP00000506301.1:p.Ala299Ser
ENST00000681446.1:c.*477G>T	ENSP00000506244.1:n.*477G>T
ENST00000681450.1:c.*566G>T	ENSP00000505660.1:n.*566G>T
ENST00000681548.1:c.*481G>T	ENSP00000505275.1:n.*481G>T
ENST00000681616.1:c.*554G>T	ENSP00000505111.1:n.*554G>T
ENST00000681621.1:c.*479G>T	ENSP00000505770.1:n.*479G>T
ENST00000681680.1:n.2990G>T
ENST00000681720.1:c.*350G>T	ENSP00000505438.1:n.*350G>T
ENST00000681730.1:n.1117G>T
ENST00000681790.1:c.637G>T	ENSP00000505130.1:p.Ala213Ser
ENST00000681837.1:n.1511G>T
ENST00000681913.1:n.3019G>T
ENST00000681916.1:c.*663G>T	ENSP00000506477.1:n.*663G>T
ENST00000681930.1:n.3019G>T
ENST00000370834.9:c.994G>T	ENSP00000359871.5:p.Ala332Ser
ENST00000370841.8:c.895G>T	ENSP00000359878.4:p.Ala299Ser
ENST00000420607.6:c.907G>T	ENSP00000409612.2:p.Ala303Ser
ENST00000481374.1:n.46G>T
ENST00000525808.5:c.*481G>T	ENSP00000434823.1:n.*481G>T
ENST00000526129.5:c.*679G>T	ENSP00000434092.1:n.*679G>T
ENST00000526196.5:c.*663G>T	ENSP00000431953.1:n.*663G>T
ENST00000528016.1:c.109G>T	ENSP00000434284.1:p.Ala37Ser
ENST00000529059.5:n.804G>T
ENST00000532207.5:n.625G>T
ENST00000534334.5:c.*479G>T	ENSP00000435584.1:n.*479G>T
ENST00000541113.5:c.787G>T	ENSP00000442324.1:p.Ala263Ser
NM_000016.5:c.895G>T	NP_000007.1:p.Ala299Ser
NM_001127328.2:c.907G>T	NP_001120800.1:p.Ala303Ser
NM_001286042.1:c.787G>T	NP_001272971.1:p.Ala263Ser
NM_001286043.1:c.994G>T	NP_001272972.1:p.Ala332Ser
NM_001286044.1:c.328G>T	NP_001272973.1:p.Ala110Ser
NM_000016.6:c.895G>T MANE Select	NP_000007.1:p.Ala299Ser
NM_001127328.3:c.907G>T	NP_001120800.1:p.Ala303Ser
NM_001286042.2:c.787G>T	NP_001272971.1:p.Ala263Ser
NM_001286043.2:c.994G>T	NP_001272972.1:p.Ala332Ser
NM_001286044.2:c.328G>T	NP_001272973.1:p.Ala110Ser