Canonical Allele Identifier: CA340816774

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215215A>T (hg19) ; chr1:g.75749530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749530A>T , CM000663.2:g.75749530A>T	GRCh38
NC_000001.10:g.76215215A>T , CM000663.1:g.76215215A>T	GRCh37
NC_000001.9:g.75987803A>T	NCBI36
NG_007045.2:g.30173A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.820A>T MANE Select	ENSP00000359878.5:p.Met274Leu
ENST00000473018.3:n.2944A>T
ENST00000532207.6:n.1709A>T
ENST00000541113.6:c.820A>T	ENSP00000442324.2:p.Met274Leu
ENST00000679509.1:n.1782A>T
ENST00000679530.1:c.*588A>T	ENSP00000506454.1:n.*588A>T
ENST00000679615.1:n.2835A>T
ENST00000679687.1:c.382A>T	ENSP00000506598.1:p.Met128Leu
ENST00000679704.1:c.*586A>T	ENSP00000505117.1:n.*586A>T
ENST00000679709.1:c.*783A>T	ENSP00000506623.1:n.*783A>T
ENST00000679976.1:c.*404A>T	ENSP00000505565.1:n.*404A>T
ENST00000680166.1:n.4109A>T
ENST00000680517.1:c.*208A>T	ENSP00000505803.1:n.*208A>T
ENST00000680582.1:n.1782A>T
ENST00000680613.1:c.*191A>T	ENSP00000506114.1:n.*191A>T
ENST00000680662.1:c.*734A>T	ENSP00000505080.1:n.*734A>T
ENST00000680691.1:c.*483A>T	ENSP00000506487.1:n.*483A>T
ENST00000680694.1:c.*408A>T	ENSP00000505658.1:n.*408A>T
ENST00000680743.1:c.*487A>T	ENSP00000505073.1:n.*487A>T
ENST00000680749.1:c.*105A>T	ENSP00000505122.1:n.*105A>T
ENST00000680798.1:c.*295A>T	ENSP00000505670.1:n.*295A>T
ENST00000680805.1:c.709-921A>T	ENSP00000505447.1:n.709-921A>T
ENST00000680844.1:c.*604A>T	ENSP00000506541.1:n.*604A>T
ENST00000680948.1:c.*687A>T	ENSP00000505441.1:n.*687A>T
ENST00000680964.1:c.820A>T	ENSP00000505961.1:p.Met274Leu
ENST00000681037.1:c.*2304A>T	ENSP00000506025.1:n.*2304A>T
ENST00000681063.1:c.600-921A>T	ENSP00000506616.1:n.600-921A>T
ENST00000681209.1:c.*475A>T	ENSP00000505877.1:n.*475A>T
ENST00000681278.1:n.1177A>T
ENST00000681289.1:n.4815A>T
ENST00000681361.1:c.*487A>T	ENSP00000506679.1:n.*487A>T
ENST00000681430.1:c.820A>T	ENSP00000506301.1:p.Met274Leu
ENST00000681446.1:c.*402A>T	ENSP00000506244.1:n.*402A>T
ENST00000681450.1:c.*491A>T	ENSP00000505660.1:n.*491A>T
ENST00000681548.1:c.*406A>T	ENSP00000505275.1:n.*406A>T
ENST00000681616.1:c.*479A>T	ENSP00000505111.1:n.*479A>T
ENST00000681621.1:c.*404A>T	ENSP00000505770.1:n.*404A>T
ENST00000681680.1:n.2915A>T
ENST00000681720.1:c.*275A>T	ENSP00000505438.1:n.*275A>T
ENST00000681730.1:n.1042A>T
ENST00000681790.1:c.562A>T	ENSP00000505130.1:p.Met188Leu
ENST00000681837.1:n.1436A>T
ENST00000681913.1:n.2944A>T
ENST00000681916.1:c.*588A>T	ENSP00000506477.1:n.*588A>T
ENST00000681930.1:n.2944A>T
ENST00000370834.9:c.919A>T	ENSP00000359871.5:p.Met307Leu
ENST00000370841.8:c.820A>T	ENSP00000359878.4:p.Met274Leu
ENST00000420607.6:c.832A>T	ENSP00000409612.2:p.Met278Leu
ENST00000525808.5:c.*406A>T	ENSP00000434823.1:n.*406A>T
ENST00000526129.5:c.*604A>T	ENSP00000434092.1:n.*604A>T
ENST00000526196.5:c.*588A>T	ENSP00000431953.1:n.*588A>T
ENST00000528016.1:c.34A>T	ENSP00000434284.1:p.Met12Leu
ENST00000529059.5:n.729A>T
ENST00000530953.6:c.*317A>T	ENSP00000431372.1:n.*317A>T
ENST00000532207.5:n.550A>T
ENST00000532509.5:c.*584A>T	ENSP00000432522.1:n.*584A>T
ENST00000534334.5:c.*404A>T	ENSP00000435584.1:n.*404A>T
ENST00000541113.5:c.712A>T	ENSP00000442324.1:p.Met238Leu
NM_000016.5:c.820A>T	NP_000007.1:p.Met274Leu
NM_001127328.2:c.832A>T	NP_001120800.1:p.Met278Leu
NM_001286042.1:c.712A>T	NP_001272971.1:p.Met238Leu
NM_001286043.1:c.919A>T	NP_001272972.1:p.Met307Leu
NM_001286044.1:c.253A>T	NP_001272973.1:p.Met85Leu
NM_000016.6:c.820A>T MANE Select	NP_000007.1:p.Met274Leu
NM_001127328.3:c.832A>T	NP_001120800.1:p.Met278Leu
NM_001286042.2:c.712A>T	NP_001272971.1:p.Met238Leu
NM_001286043.2:c.919A>T	NP_001272972.1:p.Met307Leu
NM_001286044.2:c.253A>T	NP_001272973.1:p.Met85Leu