Canonical Allele Identifier: CA340818004

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1024055
• ClinVar RCV Id: RCV001324190
• dbSNP Id: rs1424545377
• MyVariant Identifiers: chr1:g.76226882G>A (hg19) ; chr1:g.75761197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761197G>A , CM000663.2:g.75761197G>A	GRCh38
NC_000001.10:g.76226882G>A , CM000663.1:g.76226882G>A	GRCh37
NC_000001.9:g.75999470G>A	NCBI36
NG_007045.2:g.41840G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1021G>A MANE Select	ENSP00000359878.5:p.Ala341Thr
ENST00000473018.3:n.3145G>A
ENST00000532207.6:n.2032G>A
ENST00000541113.6:c.925G>A	ENSP00000442324.2:p.Ala309Thr
ENST00000679509.1:n.1983G>A
ENST00000679530.1:c.*789G>A	ENSP00000506454.1:n.*789G>A
ENST00000679615.1:n.3036G>A
ENST00000679687.1:c.583G>A	ENSP00000506598.1:p.Ala195Thr
ENST00000679704.1:c.*787G>A	ENSP00000505117.1:n.*787G>A
ENST00000679709.1:c.*984G>A	ENSP00000506623.1:n.*984G>A
ENST00000679976.1:c.*605G>A	ENSP00000505565.1:n.*605G>A
ENST00000680166.1:n.4310G>A
ENST00000680315.1:n.904G>A
ENST00000680517.1:c.*409G>A	ENSP00000505803.1:n.*409G>A
ENST00000680582.1:n.1983G>A
ENST00000680613.1:c.*514G>A	ENSP00000506114.1:n.*514G>A
ENST00000680662.1:c.*935G>A	ENSP00000505080.1:n.*935G>A
ENST00000680691.1:c.*684G>A	ENSP00000506487.1:n.*684G>A
ENST00000680694.1:c.*609G>A	ENSP00000505658.1:n.*609G>A
ENST00000680743.1:c.*810G>A	ENSP00000505073.1:n.*810G>A
ENST00000680749.1:c.*306G>A	ENSP00000505122.1:n.*306G>A
ENST00000680798.1:c.*496G>A	ENSP00000505670.1:n.*496G>A
ENST00000680805.1:c.880G>A	ENSP00000505447.1:p.Ala294Thr
ENST00000680844.1:c.*805G>A	ENSP00000506541.1:n.*805G>A
ENST00000680948.1:c.*888G>A	ENSP00000505441.1:n.*888G>A
ENST00000680964.1:c.*114G>A	ENSP00000505961.1:n.*114G>A
ENST00000681037.1:c.*2505G>A	ENSP00000506025.1:n.*2505G>A
ENST00000681063.1:c.*290G>A	ENSP00000506616.1:n.*290G>A
ENST00000681209.1:c.*676G>A	ENSP00000505877.1:n.*676G>A
ENST00000681278.1:n.1723G>A
ENST00000681289.1:n.5016G>A
ENST00000681361.1:c.*688G>A	ENSP00000506679.1:n.*688G>A
ENST00000681430.1:c.*114G>A	ENSP00000506301.1:n.*114G>A
ENST00000681446.1:c.*725G>A	ENSP00000506244.1:n.*725G>A
ENST00000681450.1:c.*692G>A	ENSP00000505660.1:n.*692G>A
ENST00000681548.1:c.*607G>A	ENSP00000505275.1:n.*607G>A
ENST00000681616.1:c.*680G>A	ENSP00000505111.1:n.*680G>A
ENST00000681621.1:c.*605G>A	ENSP00000505770.1:n.*605G>A
ENST00000681680.1:n.3116G>A
ENST00000681720.1:c.*476G>A	ENSP00000505438.1:n.*476G>A
ENST00000681730.1:n.1243G>A
ENST00000681790.1:c.763G>A	ENSP00000505130.1:p.Ala255Thr
ENST00000681837.1:n.1637G>A
ENST00000681913.1:n.3267G>A
ENST00000681916.1:c.*789G>A	ENSP00000506477.1:n.*789G>A
ENST00000681930.1:n.3145G>A
ENST00000370834.9:c.1120G>A	ENSP00000359871.5:p.Ala374Thr
ENST00000370841.8:c.1021G>A	ENSP00000359878.4:p.Ala341Thr
ENST00000420607.6:c.1033G>A	ENSP00000409612.2:p.Ala345Thr
ENST00000481374.1:n.294G>A
ENST00000525808.5:c.*607G>A	ENSP00000434823.1:n.*607G>A
ENST00000526129.5:c.*805G>A	ENSP00000434092.1:n.*805G>A
ENST00000526196.5:c.*789G>A	ENSP00000431953.1:n.*789G>A
ENST00000528016.1:c.160-7980G>A	ENSP00000434284.1:n.160-7980G>A
ENST00000529059.5:n.930G>A
ENST00000532207.5:n.751G>A
ENST00000534334.5:c.*762G>A	ENSP00000435584.1:n.*762G>A
ENST00000541113.5:c.913G>A	ENSP00000442324.1:p.Ala305Thr
NM_000016.5:c.1021G>A	NP_000007.1:p.Ala341Thr
NM_001127328.2:c.1033G>A	NP_001120800.1:p.Ala345Thr
NM_001286042.1:c.913G>A	NP_001272971.1:p.Ala305Thr
NM_001286043.1:c.1120G>A	NP_001272972.1:p.Ala374Thr
NM_001286044.1:c.454G>A	NP_001272973.1:p.Ala152Thr
NM_000016.6:c.1021G>A MANE Select	NP_000007.1:p.Ala341Thr
NM_001127328.3:c.1033G>A	NP_001120800.1:p.Ala345Thr
NM_001286042.2:c.913G>A	NP_001272971.1:p.Ala305Thr
NM_001286043.2:c.1120G>A	NP_001272972.1:p.Ala374Thr
NM_001286044.2:c.454G>A	NP_001272973.1:p.Ala152Thr