Canonical Allele Identifier: CA340816023

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2578026
• ClinVar RCV Id: RCV003325625
• MyVariant Identifiers: chr1:g.76211543G>A (hg19) ; chr1:g.75745858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745858G>A , CM000663.2:g.75745858G>A	GRCh38
NC_000001.10:g.76211543G>A , CM000663.1:g.76211543G>A	GRCh37
NC_000001.9:g.75984131G>A	NCBI36
NG_007045.2:g.26501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.652G>A MANE Select	ENSP00000359878.5:p.Ala218Thr
ENST00000473018.3:n.2776G>A
ENST00000532207.6:n.1541G>A
ENST00000541113.6:c.652G>A	ENSP00000442324.2:p.Ala218Thr
ENST00000679509.1:n.1614G>A
ENST00000679530.1:c.*420G>A	ENSP00000506454.1:n.*420G>A
ENST00000679615.1:n.2724-3561G>A
ENST00000679687.1:c.214G>A	ENSP00000506598.1:p.Ala72Thr
ENST00000679704.1:c.*418G>A	ENSP00000505117.1:n.*418G>A
ENST00000679709.1:c.*615G>A	ENSP00000506623.1:n.*615G>A
ENST00000679976.1:c.*236G>A	ENSP00000505565.1:n.*236G>A
ENST00000680166.1:n.3941G>A
ENST00000680517.1:c.*97-3561G>A	ENSP00000505803.1:n.*97-3561G>A
ENST00000680582.1:n.1614G>A
ENST00000680613.1:c.*23G>A	ENSP00000506114.1:n.*23G>A
ENST00000680662.1:c.*566G>A	ENSP00000505080.1:n.*566G>A
ENST00000680691.1:c.*315G>A	ENSP00000506487.1:n.*315G>A
ENST00000680694.1:c.*240G>A	ENSP00000505658.1:n.*240G>A
ENST00000680743.1:c.*319G>A	ENSP00000505073.1:n.*319G>A
ENST00000680749.1:c.600-3561G>A	ENSP00000505122.1:n.600-3561G>A
ENST00000680798.1:c.*184-3561G>A	ENSP00000505670.1:n.*184-3561G>A
ENST00000680805.1:c.652G>A	ENSP00000505447.1:p.Ala218Thr
ENST00000680844.1:c.*436G>A	ENSP00000506541.1:n.*436G>A
ENST00000680948.1:c.*519G>A	ENSP00000505441.1:n.*519G>A
ENST00000680964.1:c.652G>A	ENSP00000505961.1:p.Ala218Thr
ENST00000681037.1:c.*2136G>A	ENSP00000506025.1:n.*2136G>A
ENST00000681063.1:c.600-4593G>A	ENSP00000506616.1:n.600-4593G>A
ENST00000681209.1:c.*364-3561G>A	ENSP00000505877.1:n.*364-3561G>A
ENST00000681278.1:n.1009G>A
ENST00000681289.1:n.4647G>A
ENST00000681361.1:c.*319G>A	ENSP00000506679.1:n.*319G>A
ENST00000681430.1:c.652G>A	ENSP00000506301.1:p.Ala218Thr
ENST00000681446.1:c.*234G>A	ENSP00000506244.1:n.*234G>A
ENST00000681450.1:c.*323G>A	ENSP00000505660.1:n.*323G>A
ENST00000681548.1:c.*238G>A	ENSP00000505275.1:n.*238G>A
ENST00000681616.1:c.*368-3561G>A	ENSP00000505111.1:n.*368-3561G>A
ENST00000681621.1:c.*236G>A	ENSP00000505770.1:n.*236G>A
ENST00000681680.1:n.2747G>A
ENST00000681720.1:c.*107G>A	ENSP00000505438.1:n.*107G>A
ENST00000681730.1:n.874G>A
ENST00000681790.1:c.394G>A	ENSP00000505130.1:p.Ala132Thr
ENST00000681837.1:n.1268G>A
ENST00000681913.1:n.2776G>A
ENST00000681916.1:c.*420G>A	ENSP00000506477.1:n.*420G>A
ENST00000681930.1:n.2776G>A
ENST00000370834.9:c.751G>A	ENSP00000359871.5:p.Ala251Thr
ENST00000370841.8:c.652G>A	ENSP00000359878.4:p.Ala218Thr
ENST00000420607.6:c.664G>A	ENSP00000409612.2:p.Ala222Thr
ENST00000525808.5:c.*238G>A	ENSP00000434823.1:n.*238G>A
ENST00000526129.5:c.*436G>A	ENSP00000434092.1:n.*436G>A
ENST00000526196.5:c.*420G>A	ENSP00000431953.1:n.*420G>A
ENST00000526930.1:n.425G>A
ENST00000529059.5:n.561G>A
ENST00000530953.6:c.*149G>A	ENSP00000431372.1:n.*149G>A
ENST00000532207.5:n.382G>A
ENST00000532509.5:c.*416G>A	ENSP00000432522.1:n.*416G>A
ENST00000534334.5:c.*236G>A	ENSP00000435584.1:n.*236G>A
ENST00000541113.5:c.544G>A	ENSP00000442324.1:p.Ala182Thr
NM_000016.5:c.652G>A	NP_000007.1:p.Ala218Thr
NM_001127328.2:c.664G>A	NP_001120800.1:p.Ala222Thr
NM_001286042.1:c.544G>A	NP_001272971.1:p.Ala182Thr
NM_001286043.1:c.751G>A	NP_001272972.1:p.Ala251Thr
NM_001286044.1:c.85G>A	NP_001272973.1:p.Ala29Thr
NM_000016.6:c.652G>A MANE Select	NP_000007.1:p.Ala218Thr
NM_001127328.3:c.664G>A	NP_001120800.1:p.Ala222Thr
NM_001286042.2:c.544G>A	NP_001272971.1:p.Ala182Thr
NM_001286043.2:c.751G>A	NP_001272972.1:p.Ala251Thr
NM_001286044.2:c.85G>A	NP_001272973.1:p.Ala29Thr