Canonical Allele Identifier: CA340816666

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215179G>C (hg19) ; chr1:g.75749494G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749494G>C , CM000663.2:g.75749494G>C	GRCh38
NC_000001.10:g.76215179G>C , CM000663.1:g.76215179G>C	GRCh37
NC_000001.9:g.75987767G>C	NCBI36
NG_007045.2:g.30137G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.784G>C MANE Select	ENSP00000359878.5:p.Val262Leu
ENST00000473018.3:n.2908G>C
ENST00000532207.6:n.1673G>C
ENST00000541113.6:c.784G>C	ENSP00000442324.2:p.Val262Leu
ENST00000679509.1:n.1746G>C
ENST00000679530.1:c.*552G>C	ENSP00000506454.1:n.*552G>C
ENST00000679615.1:n.2799G>C
ENST00000679687.1:c.346G>C	ENSP00000506598.1:p.Val116Leu
ENST00000679704.1:c.*550G>C	ENSP00000505117.1:n.*550G>C
ENST00000679709.1:c.*747G>C	ENSP00000506623.1:n.*747G>C
ENST00000679976.1:c.*368G>C	ENSP00000505565.1:n.*368G>C
ENST00000680166.1:n.4073G>C
ENST00000680517.1:c.*172G>C	ENSP00000505803.1:n.*172G>C
ENST00000680582.1:n.1746G>C
ENST00000680613.1:c.*155G>C	ENSP00000506114.1:n.*155G>C
ENST00000680662.1:c.*698G>C	ENSP00000505080.1:n.*698G>C
ENST00000680691.1:c.*447G>C	ENSP00000506487.1:n.*447G>C
ENST00000680694.1:c.*372G>C	ENSP00000505658.1:n.*372G>C
ENST00000680743.1:c.*451G>C	ENSP00000505073.1:n.*451G>C
ENST00000680749.1:c.*69G>C	ENSP00000505122.1:n.*69G>C
ENST00000680798.1:c.*259G>C	ENSP00000505670.1:n.*259G>C
ENST00000680805.1:c.709-957G>C	ENSP00000505447.1:n.709-957G>C
ENST00000680844.1:c.*568G>C	ENSP00000506541.1:n.*568G>C
ENST00000680948.1:c.*651G>C	ENSP00000505441.1:n.*651G>C
ENST00000680964.1:c.784G>C	ENSP00000505961.1:p.Val262Leu
ENST00000681037.1:c.*2268G>C	ENSP00000506025.1:n.*2268G>C
ENST00000681063.1:c.600-957G>C	ENSP00000506616.1:n.600-957G>C
ENST00000681209.1:c.*439G>C	ENSP00000505877.1:n.*439G>C
ENST00000681278.1:n.1141G>C
ENST00000681289.1:n.4779G>C
ENST00000681361.1:c.*451G>C	ENSP00000506679.1:n.*451G>C
ENST00000681430.1:c.784G>C	ENSP00000506301.1:p.Val262Leu
ENST00000681446.1:c.*366G>C	ENSP00000506244.1:n.*366G>C
ENST00000681450.1:c.*455G>C	ENSP00000505660.1:n.*455G>C
ENST00000681548.1:c.*370G>C	ENSP00000505275.1:n.*370G>C
ENST00000681616.1:c.*443G>C	ENSP00000505111.1:n.*443G>C
ENST00000681621.1:c.*368G>C	ENSP00000505770.1:n.*368G>C
ENST00000681680.1:n.2879G>C
ENST00000681720.1:c.*239G>C	ENSP00000505438.1:n.*239G>C
ENST00000681730.1:n.1006G>C
ENST00000681790.1:c.526G>C	ENSP00000505130.1:p.Val176Leu
ENST00000681837.1:n.1400G>C
ENST00000681913.1:n.2908G>C
ENST00000681916.1:c.*552G>C	ENSP00000506477.1:n.*552G>C
ENST00000681930.1:n.2908G>C
ENST00000370834.9:c.883G>C	ENSP00000359871.5:p.Val295Leu
ENST00000370841.8:c.784G>C	ENSP00000359878.4:p.Val262Leu
ENST00000420607.6:c.796G>C	ENSP00000409612.2:p.Val266Leu
ENST00000525808.5:c.*370G>C	ENSP00000434823.1:n.*370G>C
ENST00000526129.5:c.*568G>C	ENSP00000434092.1:n.*568G>C
ENST00000526196.5:c.*552G>C	ENSP00000431953.1:n.*552G>C
ENST00000526930.1:n.557G>C
ENST00000529059.5:n.693G>C
ENST00000530953.6:c.*281G>C	ENSP00000431372.1:n.*281G>C
ENST00000532207.5:n.514G>C
ENST00000532509.5:c.*548G>C	ENSP00000432522.1:n.*548G>C
ENST00000534334.5:c.*368G>C	ENSP00000435584.1:n.*368G>C
ENST00000541113.5:c.676G>C	ENSP00000442324.1:p.Val226Leu
NM_000016.5:c.784G>C	NP_000007.1:p.Val262Leu
NM_001127328.2:c.796G>C	NP_001120800.1:p.Val266Leu
NM_001286042.1:c.676G>C	NP_001272971.1:p.Val226Leu
NM_001286043.1:c.883G>C	NP_001272972.1:p.Val295Leu
NM_001286044.1:c.217G>C	NP_001272973.1:p.Val73Leu
NM_000016.6:c.784G>C MANE Select	NP_000007.1:p.Val262Leu
NM_001127328.3:c.796G>C	NP_001120800.1:p.Val266Leu
NM_001286042.2:c.676G>C	NP_001272971.1:p.Val226Leu
NM_001286043.2:c.883G>C	NP_001272972.1:p.Val295Leu
NM_001286044.2:c.217G>C	NP_001272973.1:p.Val73Leu