Canonical Allele Identifier: CA340817866

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226822T>G (hg19) ; chr1:g.75761137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761137T>G , CM000663.2:g.75761137T>G	GRCh38
NC_000001.10:g.76226822T>G , CM000663.1:g.76226822T>G	GRCh37
NC_000001.9:g.75999410T>G	NCBI36
NG_007045.2:g.41780T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.961T>G MANE Select	ENSP00000359878.5:p.Phe321Val
ENST00000473018.3:n.3085T>G
ENST00000532207.6:n.1972T>G
ENST00000541113.6:c.865T>G	ENSP00000442324.2:p.Phe289Val
ENST00000679509.1:n.1923T>G
ENST00000679530.1:c.*729T>G	ENSP00000506454.1:n.*729T>G
ENST00000679615.1:n.2976T>G
ENST00000679687.1:c.523T>G	ENSP00000506598.1:p.Phe175Val
ENST00000679704.1:c.*727T>G	ENSP00000505117.1:n.*727T>G
ENST00000679709.1:c.*924T>G	ENSP00000506623.1:n.*924T>G
ENST00000679976.1:c.*545T>G	ENSP00000505565.1:n.*545T>G
ENST00000680166.1:n.4250T>G
ENST00000680315.1:n.844T>G
ENST00000680517.1:c.*349T>G	ENSP00000505803.1:n.*349T>G
ENST00000680582.1:n.1923T>G
ENST00000680613.1:c.*454T>G	ENSP00000506114.1:n.*454T>G
ENST00000680662.1:c.*875T>G	ENSP00000505080.1:n.*875T>G
ENST00000680691.1:c.*624T>G	ENSP00000506487.1:n.*624T>G
ENST00000680694.1:c.*549T>G	ENSP00000505658.1:n.*549T>G
ENST00000680743.1:c.*750T>G	ENSP00000505073.1:n.*750T>G
ENST00000680749.1:c.*246T>G	ENSP00000505122.1:n.*246T>G
ENST00000680798.1:c.*436T>G	ENSP00000505670.1:n.*436T>G
ENST00000680805.1:c.820T>G	ENSP00000505447.1:p.Phe274Val
ENST00000680844.1:c.*745T>G	ENSP00000506541.1:n.*745T>G
ENST00000680948.1:c.*828T>G	ENSP00000505441.1:n.*828T>G
ENST00000680964.1:c.*54T>G	ENSP00000505961.1:n.*54T>G
ENST00000681037.1:c.*2445T>G	ENSP00000506025.1:n.*2445T>G
ENST00000681063.1:c.*230T>G	ENSP00000506616.1:n.*230T>G
ENST00000681209.1:c.*616T>G	ENSP00000505877.1:n.*616T>G
ENST00000681278.1:n.1663T>G
ENST00000681289.1:n.4956T>G
ENST00000681361.1:c.*628T>G	ENSP00000506679.1:n.*628T>G
ENST00000681430.1:c.*54T>G	ENSP00000506301.1:n.*54T>G
ENST00000681446.1:c.*665T>G	ENSP00000506244.1:n.*665T>G
ENST00000681450.1:c.*632T>G	ENSP00000505660.1:n.*632T>G
ENST00000681548.1:c.*547T>G	ENSP00000505275.1:n.*547T>G
ENST00000681616.1:c.*620T>G	ENSP00000505111.1:n.*620T>G
ENST00000681621.1:c.*545T>G	ENSP00000505770.1:n.*545T>G
ENST00000681680.1:n.3056T>G
ENST00000681720.1:c.*416T>G	ENSP00000505438.1:n.*416T>G
ENST00000681730.1:n.1183T>G
ENST00000681790.1:c.703T>G	ENSP00000505130.1:p.Phe235Val
ENST00000681837.1:n.1577T>G
ENST00000681913.1:n.3207T>G
ENST00000681916.1:c.*729T>G	ENSP00000506477.1:n.*729T>G
ENST00000681930.1:n.3085T>G
ENST00000370834.9:c.1060T>G	ENSP00000359871.5:p.Phe354Val
ENST00000370841.8:c.961T>G	ENSP00000359878.4:p.Phe321Val
ENST00000420607.6:c.973T>G	ENSP00000409612.2:p.Phe325Val
ENST00000481374.1:n.234T>G
ENST00000525808.5:c.*547T>G	ENSP00000434823.1:n.*547T>G
ENST00000526129.5:c.*745T>G	ENSP00000434092.1:n.*745T>G
ENST00000526196.5:c.*729T>G	ENSP00000431953.1:n.*729T>G
ENST00000528016.1:c.160-8040T>G	ENSP00000434284.1:n.160-8040T>G
ENST00000529059.5:n.870T>G
ENST00000532207.5:n.691T>G
ENST00000534334.5:c.*702T>G	ENSP00000435584.1:n.*702T>G
ENST00000541113.5:c.853T>G	ENSP00000442324.1:p.Phe285Val
NM_000016.5:c.961T>G	NP_000007.1:p.Phe321Val
NM_001127328.2:c.973T>G	NP_001120800.1:p.Phe325Val
NM_001286042.1:c.853T>G	NP_001272971.1:p.Phe285Val
NM_001286043.1:c.1060T>G	NP_001272972.1:p.Phe354Val
NM_001286044.1:c.394T>G	NP_001272973.1:p.Phe132Val
NM_000016.6:c.961T>G MANE Select	NP_000007.1:p.Phe321Val
NM_001127328.3:c.973T>G	NP_001120800.1:p.Phe325Val
NM_001286042.2:c.853T>G	NP_001272971.1:p.Phe285Val
NM_001286043.2:c.1060T>G	NP_001272972.1:p.Phe354Val
NM_001286044.2:c.394T>G	NP_001272973.1:p.Phe132Val