Canonical Allele Identifier: CA340818324

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227035A>T (hg19) ; chr1:g.75761350A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761350A>T , CM000663.2:g.75761350A>T	GRCh38
NC_000001.10:g.76227035A>T , CM000663.1:g.76227035A>T	GRCh37
NC_000001.9:g.75999623A>T	NCBI36
NG_007045.2:g.41993A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1174A>T MANE Select	ENSP00000359878.5:p.Arg392Trp
ENST00000473018.3:n.3298A>T
ENST00000532207.6:n.2185A>T
ENST00000541113.6:c.1078A>T	ENSP00000442324.2:p.Arg360Trp
ENST00000679509.1:n.2136A>T
ENST00000679530.1:c.*942A>T	ENSP00000506454.1:n.*942A>T
ENST00000679615.1:n.3189A>T
ENST00000679687.1:c.736A>T	ENSP00000506598.1:p.Arg246Trp
ENST00000679704.1:c.*940A>T	ENSP00000505117.1:n.*940A>T
ENST00000679709.1:c.*1137A>T	ENSP00000506623.1:n.*1137A>T
ENST00000679976.1:c.*758A>T	ENSP00000505565.1:n.*758A>T
ENST00000680166.1:n.4463A>T
ENST00000680315.1:n.1057A>T
ENST00000680517.1:c.*562A>T	ENSP00000505803.1:n.*562A>T
ENST00000680582.1:n.2136A>T
ENST00000680613.1:c.*667A>T	ENSP00000506114.1:n.*667A>T
ENST00000680662.1:c.*1088A>T	ENSP00000505080.1:n.*1088A>T
ENST00000680691.1:c.*837A>T	ENSP00000506487.1:n.*837A>T
ENST00000680694.1:c.*762A>T	ENSP00000505658.1:n.*762A>T
ENST00000680743.1:c.*963A>T	ENSP00000505073.1:n.*963A>T
ENST00000680749.1:c.*459A>T	ENSP00000505122.1:n.*459A>T
ENST00000680798.1:c.*649A>T	ENSP00000505670.1:n.*649A>T
ENST00000680805.1:c.1033A>T	ENSP00000505447.1:p.Arg345Trp
ENST00000680844.1:c.*958A>T	ENSP00000506541.1:n.*958A>T
ENST00000680948.1:c.*1041A>T	ENSP00000505441.1:n.*1041A>T
ENST00000680964.1:c.*267A>T	ENSP00000505961.1:n.*267A>T
ENST00000681037.1:c.*2658A>T	ENSP00000506025.1:n.*2658A>T
ENST00000681063.1:c.*443A>T	ENSP00000506616.1:n.*443A>T
ENST00000681209.1:c.*829A>T	ENSP00000505877.1:n.*829A>T
ENST00000681278.1:n.1876A>T
ENST00000681289.1:n.5169A>T
ENST00000681361.1:c.*841A>T	ENSP00000506679.1:n.*841A>T
ENST00000681430.1:c.*267A>T	ENSP00000506301.1:n.*267A>T
ENST00000681446.1:c.*878A>T	ENSP00000506244.1:n.*878A>T
ENST00000681450.1:c.*845A>T	ENSP00000505660.1:n.*845A>T
ENST00000681548.1:c.*760A>T	ENSP00000505275.1:n.*760A>T
ENST00000681616.1:c.*833A>T	ENSP00000505111.1:n.*833A>T
ENST00000681621.1:c.*758A>T	ENSP00000505770.1:n.*758A>T
ENST00000681680.1:n.3269A>T
ENST00000681720.1:c.*629A>T	ENSP00000505438.1:n.*629A>T
ENST00000681730.1:n.1396A>T
ENST00000681790.1:c.916A>T	ENSP00000505130.1:p.Arg306Trp
ENST00000681837.1:n.1790A>T
ENST00000681913.1:n.3420A>T
ENST00000681916.1:c.*942A>T	ENSP00000506477.1:n.*942A>T
ENST00000681930.1:n.3298A>T
ENST00000370834.9:c.1273A>T	ENSP00000359871.5:p.Arg425Trp
ENST00000370841.8:c.1174A>T	ENSP00000359878.4:p.Arg392Trp
ENST00000420607.6:c.1186A>T	ENSP00000409612.2:p.Arg396Trp
ENST00000481374.1:n.447A>T
ENST00000525808.5:c.*760A>T	ENSP00000434823.1:n.*760A>T
ENST00000526129.5:c.*958A>T	ENSP00000434092.1:n.*958A>T
ENST00000526196.5:c.*942A>T	ENSP00000431953.1:n.*942A>T
ENST00000528016.1:c.160-7827A>T	ENSP00000434284.1:n.160-7827A>T
ENST00000529059.5:n.1083A>T
ENST00000541113.5:c.1066A>T	ENSP00000442324.1:p.Arg356Trp
NM_000016.5:c.1174A>T	NP_000007.1:p.Arg392Trp
NM_001127328.2:c.1186A>T	NP_001120800.1:p.Arg396Trp
NM_001286042.1:c.1066A>T	NP_001272971.1:p.Arg356Trp
NM_001286043.1:c.1273A>T	NP_001272972.1:p.Arg425Trp
NM_001286044.1:c.607A>T	NP_001272973.1:p.Arg203Trp
NM_000016.6:c.1174A>T MANE Select	NP_000007.1:p.Arg392Trp
NM_001127328.3:c.1186A>T	NP_001120800.1:p.Arg396Trp
NM_001286042.2:c.1066A>T	NP_001272971.1:p.Arg356Trp
NM_001286043.2:c.1273A>T	NP_001272972.1:p.Arg425Trp
NM_001286044.2:c.607A>T	NP_001272973.1:p.Arg203Trp