Canonical Allele Identifier: CA340818014

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226887G>T (hg19) ; chr1:g.75761202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761202G>T , CM000663.2:g.75761202G>T	GRCh38
NC_000001.10:g.76226887G>T , CM000663.1:g.76226887G>T	GRCh37
NC_000001.9:g.75999475G>T	NCBI36
NG_007045.2:g.41845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1026G>T MANE Select	ENSP00000359878.5:p.Trp342Cys
ENST00000473018.3:n.3150G>T
ENST00000532207.6:n.2037G>T
ENST00000541113.6:c.930G>T	ENSP00000442324.2:p.Trp310Cys
ENST00000679509.1:n.1988G>T
ENST00000679530.1:c.*794G>T	ENSP00000506454.1:n.*794G>T
ENST00000679615.1:n.3041G>T
ENST00000679687.1:c.588G>T	ENSP00000506598.1:p.Trp196Cys
ENST00000679704.1:c.*792G>T	ENSP00000505117.1:n.*792G>T
ENST00000679709.1:c.*989G>T	ENSP00000506623.1:n.*989G>T
ENST00000679976.1:c.*610G>T	ENSP00000505565.1:n.*610G>T
ENST00000680166.1:n.4315G>T
ENST00000680315.1:n.909G>T
ENST00000680517.1:c.*414G>T	ENSP00000505803.1:n.*414G>T
ENST00000680582.1:n.1988G>T
ENST00000680613.1:c.*519G>T	ENSP00000506114.1:n.*519G>T
ENST00000680662.1:c.*940G>T	ENSP00000505080.1:n.*940G>T
ENST00000680691.1:c.*689G>T	ENSP00000506487.1:n.*689G>T
ENST00000680694.1:c.*614G>T	ENSP00000505658.1:n.*614G>T
ENST00000680743.1:c.*815G>T	ENSP00000505073.1:n.*815G>T
ENST00000680749.1:c.*311G>T	ENSP00000505122.1:n.*311G>T
ENST00000680798.1:c.*501G>T	ENSP00000505670.1:n.*501G>T
ENST00000680805.1:c.885G>T	ENSP00000505447.1:p.Trp295Cys
ENST00000680844.1:c.*810G>T	ENSP00000506541.1:n.*810G>T
ENST00000680948.1:c.*893G>T	ENSP00000505441.1:n.*893G>T
ENST00000680964.1:c.*119G>T	ENSP00000505961.1:n.*119G>T
ENST00000681037.1:c.*2510G>T	ENSP00000506025.1:n.*2510G>T
ENST00000681063.1:c.*295G>T	ENSP00000506616.1:n.*295G>T
ENST00000681209.1:c.*681G>T	ENSP00000505877.1:n.*681G>T
ENST00000681278.1:n.1728G>T
ENST00000681289.1:n.5021G>T
ENST00000681361.1:c.*693G>T	ENSP00000506679.1:n.*693G>T
ENST00000681430.1:c.*119G>T	ENSP00000506301.1:n.*119G>T
ENST00000681446.1:c.*730G>T	ENSP00000506244.1:n.*730G>T
ENST00000681450.1:c.*697G>T	ENSP00000505660.1:n.*697G>T
ENST00000681548.1:c.*612G>T	ENSP00000505275.1:n.*612G>T
ENST00000681616.1:c.*685G>T	ENSP00000505111.1:n.*685G>T
ENST00000681621.1:c.*610G>T	ENSP00000505770.1:n.*610G>T
ENST00000681680.1:n.3121G>T
ENST00000681720.1:c.*481G>T	ENSP00000505438.1:n.*481G>T
ENST00000681730.1:n.1248G>T
ENST00000681790.1:c.768G>T	ENSP00000505130.1:p.Trp256Cys
ENST00000681837.1:n.1642G>T
ENST00000681913.1:n.3272G>T
ENST00000681916.1:c.*794G>T	ENSP00000506477.1:n.*794G>T
ENST00000681930.1:n.3150G>T
ENST00000370834.9:c.1125G>T	ENSP00000359871.5:p.Trp375Cys
ENST00000370841.8:c.1026G>T	ENSP00000359878.4:p.Trp342Cys
ENST00000420607.6:c.1038G>T	ENSP00000409612.2:p.Trp346Cys
ENST00000481374.1:n.299G>T
ENST00000525808.5:c.*612G>T	ENSP00000434823.1:n.*612G>T
ENST00000526129.5:c.*810G>T	ENSP00000434092.1:n.*810G>T
ENST00000526196.5:c.*794G>T	ENSP00000431953.1:n.*794G>T
ENST00000528016.1:c.160-7975G>T	ENSP00000434284.1:n.160-7975G>T
ENST00000529059.5:n.935G>T
ENST00000532207.5:n.756G>T
ENST00000534334.5:c.*767G>T	ENSP00000435584.1:n.*767G>T
ENST00000541113.5:c.918G>T	ENSP00000442324.1:p.Trp306Cys
NM_000016.5:c.1026G>T	NP_000007.1:p.Trp342Cys
NM_001127328.2:c.1038G>T	NP_001120800.1:p.Trp346Cys
NM_001286042.1:c.918G>T	NP_001272971.1:p.Trp306Cys
NM_001286043.1:c.1125G>T	NP_001272972.1:p.Trp375Cys
NM_001286044.1:c.459G>T	NP_001272973.1:p.Trp153Cys
NM_000016.6:c.1026G>T MANE Select	NP_000007.1:p.Trp342Cys
NM_001127328.3:c.1038G>T	NP_001120800.1:p.Trp346Cys
NM_001286042.2:c.918G>T	NP_001272971.1:p.Trp306Cys
NM_001286043.2:c.1125G>T	NP_001272972.1:p.Trp375Cys
NM_001286044.2:c.459G>T	NP_001272973.1:p.Trp153Cys