Canonical Allele Identifier: CA340815354

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205762A>G (hg19) ; chr1:g.75740077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740077A>G , CM000663.2:g.75740077A>G	GRCh38
NC_000001.10:g.76205762A>G , CM000663.1:g.76205762A>G	GRCh37
NC_000001.9:g.75978350A>G	NCBI36
NG_007045.2:g.20720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.566A>G MANE Select	ENSP00000359878.5:p.Lys189Arg
ENST00000473018.3:n.2690A>G
ENST00000541113.6:c.566A>G	ENSP00000442324.2:p.Lys189Arg
ENST00000679509.1:n.1528A>G
ENST00000679530.1:c.*334A>G	ENSP00000506454.1:n.*334A>G
ENST00000679615.1:n.2690A>G
ENST00000679687.1:c.128A>G	ENSP00000506598.1:p.Lys43Arg
ENST00000679704.1:c.*332A>G	ENSP00000505117.1:n.*332A>G
ENST00000679709.1:c.*529A>G	ENSP00000506623.1:n.*529A>G
ENST00000679804.1:n.305A>G
ENST00000679976.1:c.*150A>G	ENSP00000505565.1:n.*150A>G
ENST00000680166.1:n.3855A>G
ENST00000680517.1:c.*63A>G	ENSP00000505803.1:n.*63A>G
ENST00000680582.1:n.1528A>G
ENST00000680613.1:c.566A>G	ENSP00000506114.1:p.Lys189Arg
ENST00000680662.1:c.*480A>G	ENSP00000505080.1:n.*480A>G
ENST00000680691.1:c.*229A>G	ENSP00000506487.1:n.*229A>G
ENST00000680694.1:c.*154A>G	ENSP00000505658.1:n.*154A>G
ENST00000680743.1:c.*233A>G	ENSP00000505073.1:n.*233A>G
ENST00000680749.1:c.566A>G	ENSP00000505122.1:p.Lys189Arg
ENST00000680798.1:c.*150A>G	ENSP00000505670.1:n.*150A>G
ENST00000680805.1:c.566A>G	ENSP00000505447.1:p.Lys189Arg
ENST00000680844.1:c.*350A>G	ENSP00000506541.1:n.*350A>G
ENST00000680948.1:c.*433A>G	ENSP00000505441.1:n.*433A>G
ENST00000680964.1:c.566A>G	ENSP00000505961.1:p.Lys189Arg
ENST00000681037.1:c.566A>G	ENSP00000506025.1:p.Lys189Arg
ENST00000681063.1:c.566A>G	ENSP00000506616.1:p.Lys189Arg
ENST00000681209.1:c.*330A>G	ENSP00000505877.1:n.*330A>G
ENST00000681278.1:n.923A>G
ENST00000681289.1:n.923A>G
ENST00000681361.1:c.*233A>G	ENSP00000506679.1:n.*233A>G
ENST00000681430.1:c.566A>G	ENSP00000506301.1:p.Lys189Arg
ENST00000681446.1:c.*148A>G	ENSP00000506244.1:n.*148A>G
ENST00000681450.1:c.*237A>G	ENSP00000505660.1:n.*237A>G
ENST00000681548.1:c.*152A>G	ENSP00000505275.1:n.*152A>G
ENST00000681616.1:c.*334A>G	ENSP00000505111.1:n.*334A>G
ENST00000681621.1:c.*150A>G	ENSP00000505770.1:n.*150A>G
ENST00000681680.1:n.2690A>G
ENST00000681720.1:c.*55-5729A>G	ENSP00000505438.1:n.*55-5729A>G
ENST00000681730.1:n.788A>G
ENST00000681790.1:c.308A>G	ENSP00000505130.1:p.Lys103Arg
ENST00000681837.1:n.1182A>G
ENST00000681913.1:n.2690A>G
ENST00000681916.1:c.*334A>G	ENSP00000506477.1:n.*334A>G
ENST00000681930.1:n.2690A>G
ENST00000370834.9:c.665A>G	ENSP00000359871.5:p.Lys222Arg
ENST00000370841.8:c.566A>G	ENSP00000359878.4:p.Lys189Arg
ENST00000420607.6:c.578A>G	ENSP00000409612.2:p.Lys193Arg
ENST00000525808.5:c.*152A>G	ENSP00000434823.1:n.*152A>G
ENST00000526129.5:c.*350A>G	ENSP00000434092.1:n.*350A>G
ENST00000526196.5:c.*334A>G	ENSP00000431953.1:n.*334A>G
ENST00000526930.1:n.339A>G
ENST00000529059.5:n.475A>G
ENST00000530953.6:c.*63A>G	ENSP00000431372.1:n.*63A>G
ENST00000532509.5:c.*330A>G	ENSP00000432522.1:n.*330A>G
ENST00000534334.5:c.*150A>G	ENSP00000435584.1:n.*150A>G
ENST00000541113.5:c.458A>G	ENSP00000442324.1:p.Lys153Arg
NM_000016.5:c.566A>G	NP_000007.1:p.Lys189Arg
NM_001127328.2:c.578A>G	NP_001120800.1:p.Lys193Arg
NM_001286042.1:c.458A>G	NP_001272971.1:p.Lys153Arg
NM_001286043.1:c.665A>G	NP_001272972.1:p.Lys222Arg
NM_001286044.1:c.-2A>G	NP_001272973.1:n.-2A>G
NM_000016.6:c.566A>G MANE Select	NP_000007.1:p.Lys189Arg
NM_001127328.3:c.578A>G	NP_001120800.1:p.Lys193Arg
NM_001286042.2:c.458A>G	NP_001272971.1:p.Lys153Arg
NM_001286043.2:c.665A>G	NP_001272972.1:p.Lys222Arg
NM_001286044.2:c.-2A>G	NP_001272973.1:n.-2A>G