Canonical Allele Identifier: CA340816756

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215206A>T (hg19) ; chr1:g.75749521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749521A>T , CM000663.2:g.75749521A>T	GRCh38
NC_000001.10:g.76215206A>T , CM000663.1:g.76215206A>T	GRCh37
NC_000001.9:g.75987794A>T	NCBI36
NG_007045.2:g.30164A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.811A>T MANE Select	ENSP00000359878.5:p.Lys271Ter
ENST00000473018.3:n.2935A>T
ENST00000532207.6:n.1700A>T
ENST00000541113.6:c.811A>T	ENSP00000442324.2:p.Lys271Ter
ENST00000679509.1:n.1773A>T
ENST00000679530.1:c.*579A>T	ENSP00000506454.1:n.*579A>T
ENST00000679615.1:n.2826A>T
ENST00000679687.1:c.373A>T	ENSP00000506598.1:p.Lys125Ter
ENST00000679704.1:c.*577A>T	ENSP00000505117.1:n.*577A>T
ENST00000679709.1:c.*774A>T	ENSP00000506623.1:n.*774A>T
ENST00000679976.1:c.*395A>T	ENSP00000505565.1:n.*395A>T
ENST00000680166.1:n.4100A>T
ENST00000680517.1:c.*199A>T	ENSP00000505803.1:n.*199A>T
ENST00000680582.1:n.1773A>T
ENST00000680613.1:c.*182A>T	ENSP00000506114.1:n.*182A>T
ENST00000680662.1:c.*725A>T	ENSP00000505080.1:n.*725A>T
ENST00000680691.1:c.*474A>T	ENSP00000506487.1:n.*474A>T
ENST00000680694.1:c.*399A>T	ENSP00000505658.1:n.*399A>T
ENST00000680743.1:c.*478A>T	ENSP00000505073.1:n.*478A>T
ENST00000680749.1:c.*96A>T	ENSP00000505122.1:n.*96A>T
ENST00000680798.1:c.*286A>T	ENSP00000505670.1:n.*286A>T
ENST00000680805.1:c.709-930A>T	ENSP00000505447.1:n.709-930A>T
ENST00000680844.1:c.*595A>T	ENSP00000506541.1:n.*595A>T
ENST00000680948.1:c.*678A>T	ENSP00000505441.1:n.*678A>T
ENST00000680964.1:c.811A>T	ENSP00000505961.1:p.Lys271Ter
ENST00000681037.1:c.*2295A>T	ENSP00000506025.1:n.*2295A>T
ENST00000681063.1:c.600-930A>T	ENSP00000506616.1:n.600-930A>T
ENST00000681209.1:c.*466A>T	ENSP00000505877.1:n.*466A>T
ENST00000681278.1:n.1168A>T
ENST00000681289.1:n.4806A>T
ENST00000681361.1:c.*478A>T	ENSP00000506679.1:n.*478A>T
ENST00000681430.1:c.811A>T	ENSP00000506301.1:p.Lys271Ter
ENST00000681446.1:c.*393A>T	ENSP00000506244.1:n.*393A>T
ENST00000681450.1:c.*482A>T	ENSP00000505660.1:n.*482A>T
ENST00000681548.1:c.*397A>T	ENSP00000505275.1:n.*397A>T
ENST00000681616.1:c.*470A>T	ENSP00000505111.1:n.*470A>T
ENST00000681621.1:c.*395A>T	ENSP00000505770.1:n.*395A>T
ENST00000681680.1:n.2906A>T
ENST00000681720.1:c.*266A>T	ENSP00000505438.1:n.*266A>T
ENST00000681730.1:n.1033A>T
ENST00000681790.1:c.553A>T	ENSP00000505130.1:p.Lys185Ter
ENST00000681837.1:n.1427A>T
ENST00000681913.1:n.2935A>T
ENST00000681916.1:c.*579A>T	ENSP00000506477.1:n.*579A>T
ENST00000681930.1:n.2935A>T
ENST00000370834.9:c.910A>T	ENSP00000359871.5:p.Lys304Ter
ENST00000370841.8:c.811A>T	ENSP00000359878.4:p.Lys271Ter
ENST00000420607.6:c.823A>T	ENSP00000409612.2:p.Lys275Ter
ENST00000525808.5:c.*397A>T	ENSP00000434823.1:n.*397A>T
ENST00000526129.5:c.*595A>T	ENSP00000434092.1:n.*595A>T
ENST00000526196.5:c.*579A>T	ENSP00000431953.1:n.*579A>T
ENST00000528016.1:c.25A>T	ENSP00000434284.1:p.Lys9Ter
ENST00000529059.5:n.720A>T
ENST00000530953.6:c.*308A>T	ENSP00000431372.1:n.*308A>T
ENST00000532207.5:n.541A>T
ENST00000532509.5:c.*575A>T	ENSP00000432522.1:n.*575A>T
ENST00000534334.5:c.*395A>T	ENSP00000435584.1:n.*395A>T
ENST00000541113.5:c.703A>T	ENSP00000442324.1:p.Lys235Ter
NM_000016.5:c.811A>T	NP_000007.1:p.Lys271Ter
NM_001127328.2:c.823A>T	NP_001120800.1:p.Lys275Ter
NM_001286042.1:c.703A>T	NP_001272971.1:p.Lys235Ter
NM_001286043.1:c.910A>T	NP_001272972.1:p.Lys304Ter
NM_001286044.1:c.244A>T	NP_001272973.1:p.Lys82Ter
NM_000016.6:c.811A>T MANE Select	NP_000007.1:p.Lys271Ter
NM_001127328.3:c.823A>T	NP_001120800.1:p.Lys275Ter
NM_001286042.2:c.703A>T	NP_001272971.1:p.Lys235Ter
NM_001286043.2:c.910A>T	NP_001272972.1:p.Lys304Ter
NM_001286044.2:c.244A>T	NP_001272973.1:p.Lys82Ter