Canonical Allele Identifier: CA340815457

Gene: ACADM

Linked Data

• ClinVar Variation Id: 846754
• ClinVar RCV Id: RCV001050144
• dbSNP Id: rs1647485086
• MyVariant Identifiers: chr1:g.76205788G>A (hg19) ; chr1:g.75740103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740103G>A , CM000663.2:g.75740103G>A	GRCh38
NC_000001.10:g.76205788G>A , CM000663.1:g.76205788G>A	GRCh37
NC_000001.9:g.75978376G>A	NCBI36
NG_007045.2:g.20746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.592G>A MANE Select	ENSP00000359878.5:p.Ala198Thr
ENST00000473018.3:n.2716G>A
ENST00000541113.6:c.592G>A	ENSP00000442324.2:p.Ala198Thr
ENST00000679509.1:n.1554G>A
ENST00000679530.1:c.*360G>A	ENSP00000506454.1:n.*360G>A
ENST00000679615.1:n.2716G>A
ENST00000679687.1:c.154G>A	ENSP00000506598.1:p.Ala52Thr
ENST00000679704.1:c.*358G>A	ENSP00000505117.1:n.*358G>A
ENST00000679709.1:c.*555G>A	ENSP00000506623.1:n.*555G>A
ENST00000679804.1:n.331G>A
ENST00000679976.1:c.*176G>A	ENSP00000505565.1:n.*176G>A
ENST00000680166.1:n.3881G>A
ENST00000680517.1:c.*89G>A	ENSP00000505803.1:n.*89G>A
ENST00000680582.1:n.1554G>A
ENST00000680613.1:c.592G>A	ENSP00000506114.1:p.Ala198Thr
ENST00000680662.1:c.*506G>A	ENSP00000505080.1:n.*506G>A
ENST00000680691.1:c.*255G>A	ENSP00000506487.1:n.*255G>A
ENST00000680694.1:c.*180G>A	ENSP00000505658.1:n.*180G>A
ENST00000680743.1:c.*259G>A	ENSP00000505073.1:n.*259G>A
ENST00000680749.1:c.592G>A	ENSP00000505122.1:p.Ala198Thr
ENST00000680798.1:c.*176G>A	ENSP00000505670.1:n.*176G>A
ENST00000680805.1:c.592G>A	ENSP00000505447.1:p.Ala198Thr
ENST00000680844.1:c.*376G>A	ENSP00000506541.1:n.*376G>A
ENST00000680948.1:c.*459G>A	ENSP00000505441.1:n.*459G>A
ENST00000680964.1:c.592G>A	ENSP00000505961.1:p.Ala198Thr
ENST00000681037.1:c.592G>A	ENSP00000506025.1:p.Ala198Thr
ENST00000681063.1:c.592G>A	ENSP00000506616.1:p.Ala198Thr
ENST00000681209.1:c.*356G>A	ENSP00000505877.1:n.*356G>A
ENST00000681278.1:n.949G>A
ENST00000681289.1:n.949G>A
ENST00000681361.1:c.*259G>A	ENSP00000506679.1:n.*259G>A
ENST00000681430.1:c.592G>A	ENSP00000506301.1:p.Ala198Thr
ENST00000681446.1:c.*174G>A	ENSP00000506244.1:n.*174G>A
ENST00000681450.1:c.*263G>A	ENSP00000505660.1:n.*263G>A
ENST00000681548.1:c.*178G>A	ENSP00000505275.1:n.*178G>A
ENST00000681616.1:c.*360G>A	ENSP00000505111.1:n.*360G>A
ENST00000681621.1:c.*176G>A	ENSP00000505770.1:n.*176G>A
ENST00000681680.1:n.2716G>A
ENST00000681720.1:c.*55-5703G>A	ENSP00000505438.1:n.*55-5703G>A
ENST00000681730.1:n.814G>A
ENST00000681790.1:c.334G>A	ENSP00000505130.1:p.Ala112Thr
ENST00000681837.1:n.1208G>A
ENST00000681913.1:n.2716G>A
ENST00000681916.1:c.*360G>A	ENSP00000506477.1:n.*360G>A
ENST00000681930.1:n.2716G>A
ENST00000370834.9:c.691G>A	ENSP00000359871.5:p.Ala231Thr
ENST00000370841.8:c.592G>A	ENSP00000359878.4:p.Ala198Thr
ENST00000420607.6:c.604G>A	ENSP00000409612.2:p.Ala202Thr
ENST00000525808.5:c.*178G>A	ENSP00000434823.1:n.*178G>A
ENST00000526129.5:c.*376G>A	ENSP00000434092.1:n.*376G>A
ENST00000526196.5:c.*360G>A	ENSP00000431953.1:n.*360G>A
ENST00000526930.1:n.365G>A
ENST00000529059.5:n.501G>A
ENST00000530953.6:c.*89G>A	ENSP00000431372.1:n.*89G>A
ENST00000532509.5:c.*356G>A	ENSP00000432522.1:n.*356G>A
ENST00000534334.5:c.*176G>A	ENSP00000435584.1:n.*176G>A
ENST00000541113.5:c.484G>A	ENSP00000442324.1:p.Ala162Thr
NM_000016.5:c.592G>A	NP_000007.1:p.Ala198Thr
NM_001127328.2:c.604G>A	NP_001120800.1:p.Ala202Thr
NM_001286042.1:c.484G>A	NP_001272971.1:p.Ala162Thr
NM_001286043.1:c.691G>A	NP_001272972.1:p.Ala231Thr
NM_001286044.1:c.25G>A	NP_001272973.1:p.Ala9Thr
NM_000016.6:c.592G>A MANE Select	NP_000007.1:p.Ala198Thr
NM_001127328.3:c.604G>A	NP_001120800.1:p.Ala202Thr
NM_001286042.2:c.484G>A	NP_001272971.1:p.Ala162Thr
NM_001286043.2:c.691G>A	NP_001272972.1:p.Ala231Thr
NM_001286044.2:c.25G>A	NP_001272973.1:p.Ala9Thr