Canonical Allele Identifier: CA340816927

Gene: ACADM

Linked Data

• gnomAD v4: 1-75750457-G-A
• MyVariant Identifiers: chr1:g.76216142G>A (hg19) ; chr1:g.75750457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750457G>A , CM000663.2:g.75750457G>A	GRCh38
NC_000001.10:g.76216142G>A , CM000663.1:g.76216142G>A	GRCh37
NC_000001.9:g.75988730G>A	NCBI36
NG_007045.2:g.31100G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.856G>A MANE Select	ENSP00000359878.5:p.Ala286Thr
ENST00000473018.3:n.2980G>A
ENST00000532207.6:n.1745G>A
ENST00000541113.6:c.849+898G>A	ENSP00000442324.2:n.849+898G>A
ENST00000679509.1:n.1818G>A
ENST00000679530.1:c.*624G>A	ENSP00000506454.1:n.*624G>A
ENST00000679615.1:n.2871G>A
ENST00000679687.1:c.418G>A	ENSP00000506598.1:p.Ala140Thr
ENST00000679704.1:c.*622G>A	ENSP00000505117.1:n.*622G>A
ENST00000679709.1:c.*819G>A	ENSP00000506623.1:n.*819G>A
ENST00000679976.1:c.*440G>A	ENSP00000505565.1:n.*440G>A
ENST00000680166.1:n.4145G>A
ENST00000680315.1:n.739G>A
ENST00000680517.1:c.*244G>A	ENSP00000505803.1:n.*244G>A
ENST00000680582.1:n.1818G>A
ENST00000680613.1:c.*227G>A	ENSP00000506114.1:n.*227G>A
ENST00000680662.1:c.*770G>A	ENSP00000505080.1:n.*770G>A
ENST00000680691.1:c.*519G>A	ENSP00000506487.1:n.*519G>A
ENST00000680694.1:c.*444G>A	ENSP00000505658.1:n.*444G>A
ENST00000680743.1:c.*523G>A	ENSP00000505073.1:n.*523G>A
ENST00000680749.1:c.*141G>A	ENSP00000505122.1:n.*141G>A
ENST00000680798.1:c.*331G>A	ENSP00000505670.1:n.*331G>A
ENST00000680805.1:c.715G>A	ENSP00000505447.1:p.Ala239Thr
ENST00000680844.1:c.*640G>A	ENSP00000506541.1:n.*640G>A
ENST00000680948.1:c.*723G>A	ENSP00000505441.1:n.*723G>A
ENST00000680964.1:c.856G>A	ENSP00000505961.1:p.Ala286Thr
ENST00000681037.1:c.*2340G>A	ENSP00000506025.1:n.*2340G>A
ENST00000681063.1:c.*3G>A	ENSP00000506616.1:n.*3G>A
ENST00000681209.1:c.*511G>A	ENSP00000505877.1:n.*511G>A
ENST00000681278.1:n.1213G>A
ENST00000681289.1:n.4851G>A
ENST00000681361.1:c.*523G>A	ENSP00000506679.1:n.*523G>A
ENST00000681430.1:c.856G>A	ENSP00000506301.1:p.Ala286Thr
ENST00000681446.1:c.*438G>A	ENSP00000506244.1:n.*438G>A
ENST00000681450.1:c.*527G>A	ENSP00000505660.1:n.*527G>A
ENST00000681548.1:c.*442G>A	ENSP00000505275.1:n.*442G>A
ENST00000681616.1:c.*515G>A	ENSP00000505111.1:n.*515G>A
ENST00000681621.1:c.*440G>A	ENSP00000505770.1:n.*440G>A
ENST00000681680.1:n.2951G>A
ENST00000681720.1:c.*311G>A	ENSP00000505438.1:n.*311G>A
ENST00000681730.1:n.1078G>A
ENST00000681790.1:c.598G>A	ENSP00000505130.1:p.Ala200Thr
ENST00000681837.1:n.1472G>A
ENST00000681913.1:n.2980G>A
ENST00000681916.1:c.*624G>A	ENSP00000506477.1:n.*624G>A
ENST00000681930.1:n.2980G>A
ENST00000370834.9:c.955G>A	ENSP00000359871.5:p.Ala319Thr
ENST00000370841.8:c.856G>A	ENSP00000359878.4:p.Ala286Thr
ENST00000420607.6:c.868G>A	ENSP00000409612.2:p.Ala290Thr
ENST00000481374.1:n.7G>A
ENST00000525808.5:c.*442G>A	ENSP00000434823.1:n.*442G>A
ENST00000526129.5:c.*640G>A	ENSP00000434092.1:n.*640G>A
ENST00000526196.5:c.*624G>A	ENSP00000431953.1:n.*624G>A
ENST00000528016.1:c.70G>A	ENSP00000434284.1:p.Ala24Thr
ENST00000529059.5:n.765G>A
ENST00000532207.5:n.586G>A
ENST00000534334.5:c.*440G>A	ENSP00000435584.1:n.*440G>A
ENST00000541113.5:c.748G>A	ENSP00000442324.1:p.Ala250Thr
NM_000016.5:c.856G>A	NP_000007.1:p.Ala286Thr
NM_001127328.2:c.868G>A	NP_001120800.1:p.Ala290Thr
NM_001286042.1:c.748G>A	NP_001272971.1:p.Ala250Thr
NM_001286043.1:c.955G>A	NP_001272972.1:p.Ala319Thr
NM_001286044.1:c.289G>A	NP_001272973.1:p.Ala97Thr
NM_000016.6:c.856G>A MANE Select	NP_000007.1:p.Ala286Thr
NM_001127328.3:c.868G>A	NP_001120800.1:p.Ala290Thr
NM_001286042.2:c.748G>A	NP_001272971.1:p.Ala250Thr
NM_001286043.2:c.955G>A	NP_001272972.1:p.Ala319Thr
NM_001286044.2:c.289G>A	NP_001272973.1:p.Ala97Thr