Canonical Allele Identifier: CA340818187

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226969A>T (hg19) ; chr1:g.75761284A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761284A>T , CM000663.2:g.75761284A>T	GRCh38
NC_000001.10:g.76226969A>T , CM000663.1:g.76226969A>T	GRCh37
NC_000001.9:g.75999557A>T	NCBI36
NG_007045.2:g.41927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1108A>T MANE Select	ENSP00000359878.5:p.Thr370Ser
ENST00000473018.3:n.3232A>T
ENST00000532207.6:n.2119A>T
ENST00000541113.6:c.1012A>T	ENSP00000442324.2:p.Thr338Ser
ENST00000679509.1:n.2070A>T
ENST00000679530.1:c.*876A>T	ENSP00000506454.1:n.*876A>T
ENST00000679615.1:n.3123A>T
ENST00000679687.1:c.670A>T	ENSP00000506598.1:p.Thr224Ser
ENST00000679704.1:c.*874A>T	ENSP00000505117.1:n.*874A>T
ENST00000679709.1:c.*1071A>T	ENSP00000506623.1:n.*1071A>T
ENST00000679976.1:c.*692A>T	ENSP00000505565.1:n.*692A>T
ENST00000680166.1:n.4397A>T
ENST00000680315.1:n.991A>T
ENST00000680517.1:c.*496A>T	ENSP00000505803.1:n.*496A>T
ENST00000680582.1:n.2070A>T
ENST00000680613.1:c.*601A>T	ENSP00000506114.1:n.*601A>T
ENST00000680662.1:c.*1022A>T	ENSP00000505080.1:n.*1022A>T
ENST00000680691.1:c.*771A>T	ENSP00000506487.1:n.*771A>T
ENST00000680694.1:c.*696A>T	ENSP00000505658.1:n.*696A>T
ENST00000680743.1:c.*897A>T	ENSP00000505073.1:n.*897A>T
ENST00000680749.1:c.*393A>T	ENSP00000505122.1:n.*393A>T
ENST00000680798.1:c.*583A>T	ENSP00000505670.1:n.*583A>T
ENST00000680805.1:c.967A>T	ENSP00000505447.1:p.Thr323Ser
ENST00000680844.1:c.*892A>T	ENSP00000506541.1:n.*892A>T
ENST00000680948.1:c.*975A>T	ENSP00000505441.1:n.*975A>T
ENST00000680964.1:c.*201A>T	ENSP00000505961.1:n.*201A>T
ENST00000681037.1:c.*2592A>T	ENSP00000506025.1:n.*2592A>T
ENST00000681063.1:c.*377A>T	ENSP00000506616.1:n.*377A>T
ENST00000681209.1:c.*763A>T	ENSP00000505877.1:n.*763A>T
ENST00000681278.1:n.1810A>T
ENST00000681289.1:n.5103A>T
ENST00000681361.1:c.*775A>T	ENSP00000506679.1:n.*775A>T
ENST00000681430.1:c.*201A>T	ENSP00000506301.1:n.*201A>T
ENST00000681446.1:c.*812A>T	ENSP00000506244.1:n.*812A>T
ENST00000681450.1:c.*779A>T	ENSP00000505660.1:n.*779A>T
ENST00000681548.1:c.*694A>T	ENSP00000505275.1:n.*694A>T
ENST00000681616.1:c.*767A>T	ENSP00000505111.1:n.*767A>T
ENST00000681621.1:c.*692A>T	ENSP00000505770.1:n.*692A>T
ENST00000681680.1:n.3203A>T
ENST00000681720.1:c.*563A>T	ENSP00000505438.1:n.*563A>T
ENST00000681730.1:n.1330A>T
ENST00000681790.1:c.850A>T	ENSP00000505130.1:p.Thr284Ser
ENST00000681837.1:n.1724A>T
ENST00000681913.1:n.3354A>T
ENST00000681916.1:c.*876A>T	ENSP00000506477.1:n.*876A>T
ENST00000681930.1:n.3232A>T
ENST00000370834.9:c.1207A>T	ENSP00000359871.5:p.Thr403Ser
ENST00000370841.8:c.1108A>T	ENSP00000359878.4:p.Thr370Ser
ENST00000420607.6:c.1120A>T	ENSP00000409612.2:p.Thr374Ser
ENST00000481374.1:n.381A>T
ENST00000525808.5:c.*694A>T	ENSP00000434823.1:n.*694A>T
ENST00000526129.5:c.*892A>T	ENSP00000434092.1:n.*892A>T
ENST00000526196.5:c.*876A>T	ENSP00000431953.1:n.*876A>T
ENST00000528016.1:c.160-7893A>T	ENSP00000434284.1:n.160-7893A>T
ENST00000529059.5:n.1017A>T
ENST00000541113.5:c.1000A>T	ENSP00000442324.1:p.Thr334Ser
NM_000016.5:c.1108A>T	NP_000007.1:p.Thr370Ser
NM_001127328.2:c.1120A>T	NP_001120800.1:p.Thr374Ser
NM_001286042.1:c.1000A>T	NP_001272971.1:p.Thr334Ser
NM_001286043.1:c.1207A>T	NP_001272972.1:p.Thr403Ser
NM_001286044.1:c.541A>T	NP_001272973.1:p.Thr181Ser
NM_000016.6:c.1108A>T MANE Select	NP_000007.1:p.Thr370Ser
NM_001127328.3:c.1120A>T	NP_001120800.1:p.Thr374Ser
NM_001286042.2:c.1000A>T	NP_001272971.1:p.Thr334Ser
NM_001286043.2:c.1207A>T	NP_001272972.1:p.Thr403Ser
NM_001286044.2:c.541A>T	NP_001272973.1:p.Thr181Ser