Canonical Allele Identifier: CA340818367

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227054A>C (hg19) ; chr1:g.75761369A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761369A>C , CM000663.2:g.75761369A>C	GRCh38
NC_000001.10:g.76227054A>C , CM000663.1:g.76227054A>C	GRCh37
NC_000001.9:g.75999642A>C	NCBI36
NG_007045.2:g.42012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1193A>C MANE Select	ENSP00000359878.5:p.Gln398Pro
ENST00000473018.3:n.3317A>C
ENST00000532207.6:n.2204A>C
ENST00000541113.6:c.1097A>C	ENSP00000442324.2:p.Gln366Pro
ENST00000679509.1:n.2155A>C
ENST00000679530.1:c.*961A>C	ENSP00000506454.1:n.*961A>C
ENST00000679615.1:n.3208A>C
ENST00000679687.1:c.755A>C	ENSP00000506598.1:p.Gln252Pro
ENST00000679704.1:c.*959A>C	ENSP00000505117.1:n.*959A>C
ENST00000679709.1:c.*1156A>C	ENSP00000506623.1:n.*1156A>C
ENST00000679976.1:c.*777A>C	ENSP00000505565.1:n.*777A>C
ENST00000680166.1:n.4482A>C
ENST00000680315.1:n.1076A>C
ENST00000680517.1:c.*581A>C	ENSP00000505803.1:n.*581A>C
ENST00000680582.1:n.2155A>C
ENST00000680613.1:c.*686A>C	ENSP00000506114.1:n.*686A>C
ENST00000680662.1:c.*1107A>C	ENSP00000505080.1:n.*1107A>C
ENST00000680691.1:c.*856A>C	ENSP00000506487.1:n.*856A>C
ENST00000680694.1:c.*781A>C	ENSP00000505658.1:n.*781A>C
ENST00000680743.1:c.*982A>C	ENSP00000505073.1:n.*982A>C
ENST00000680749.1:c.*478A>C	ENSP00000505122.1:n.*478A>C
ENST00000680798.1:c.*668A>C	ENSP00000505670.1:n.*668A>C
ENST00000680805.1:c.1052A>C	ENSP00000505447.1:p.Gln351Pro
ENST00000680844.1:c.*977A>C	ENSP00000506541.1:n.*977A>C
ENST00000680948.1:c.*1060A>C	ENSP00000505441.1:n.*1060A>C
ENST00000680964.1:c.*286A>C	ENSP00000505961.1:n.*286A>C
ENST00000681037.1:c.*2677A>C	ENSP00000506025.1:n.*2677A>C
ENST00000681063.1:c.*462A>C	ENSP00000506616.1:n.*462A>C
ENST00000681209.1:c.*848A>C	ENSP00000505877.1:n.*848A>C
ENST00000681278.1:n.1895A>C
ENST00000681289.1:n.5188A>C
ENST00000681361.1:c.*860A>C	ENSP00000506679.1:n.*860A>C
ENST00000681430.1:c.*286A>C	ENSP00000506301.1:n.*286A>C
ENST00000681446.1:c.*897A>C	ENSP00000506244.1:n.*897A>C
ENST00000681450.1:c.*864A>C	ENSP00000505660.1:n.*864A>C
ENST00000681548.1:c.*779A>C	ENSP00000505275.1:n.*779A>C
ENST00000681616.1:c.*852A>C	ENSP00000505111.1:n.*852A>C
ENST00000681621.1:c.*777A>C	ENSP00000505770.1:n.*777A>C
ENST00000681680.1:n.3288A>C
ENST00000681720.1:c.*648A>C	ENSP00000505438.1:n.*648A>C
ENST00000681730.1:n.1415A>C
ENST00000681790.1:c.935A>C	ENSP00000505130.1:p.Gln312Pro
ENST00000681837.1:n.1809A>C
ENST00000681913.1:n.3439A>C
ENST00000681916.1:c.*961A>C	ENSP00000506477.1:n.*961A>C
ENST00000681930.1:n.3317A>C
ENST00000370834.9:c.1292A>C	ENSP00000359871.5:p.Gln431Pro
ENST00000370841.8:c.1193A>C	ENSP00000359878.4:p.Gln398Pro
ENST00000420607.6:c.1205A>C	ENSP00000409612.2:p.Gln402Pro
ENST00000481374.1:n.466A>C
ENST00000525808.5:c.*779A>C	ENSP00000434823.1:n.*779A>C
ENST00000526129.5:c.*977A>C	ENSP00000434092.1:n.*977A>C
ENST00000526196.5:c.*961A>C	ENSP00000431953.1:n.*961A>C
ENST00000528016.1:c.160-7808A>C	ENSP00000434284.1:n.160-7808A>C
ENST00000529059.5:n.1102A>C
ENST00000541113.5:c.1085A>C	ENSP00000442324.1:p.Gln362Pro
NM_000016.5:c.1193A>C	NP_000007.1:p.Gln398Pro
NM_001127328.2:c.1205A>C	NP_001120800.1:p.Gln402Pro
NM_001286042.1:c.1085A>C	NP_001272971.1:p.Gln362Pro
NM_001286043.1:c.1292A>C	NP_001272972.1:p.Gln431Pro
NM_001286044.1:c.626A>C	NP_001272973.1:p.Gln209Pro
NM_000016.6:c.1193A>C MANE Select	NP_000007.1:p.Gln398Pro
NM_001127328.3:c.1205A>C	NP_001120800.1:p.Gln402Pro
NM_001286042.2:c.1085A>C	NP_001272971.1:p.Gln362Pro
NM_001286043.2:c.1292A>C	NP_001272972.1:p.Gln431Pro
NM_001286044.2:c.626A>C	NP_001272973.1:p.Gln209Pro