Canonical Allele Identifier: CA340818179

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761281-G-A
• MyVariant Identifiers: chr1:g.76226966G>A (hg19) ; chr1:g.75761281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761281G>A , CM000663.2:g.75761281G>A	GRCh38
NC_000001.10:g.76226966G>A , CM000663.1:g.76226966G>A	GRCh37
NC_000001.9:g.75999554G>A	NCBI36
NG_007045.2:g.41924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1105G>A MANE Select	ENSP00000359878.5:p.Ala369Thr
ENST00000473018.3:n.3229G>A
ENST00000532207.6:n.2116G>A
ENST00000541113.6:c.1009G>A	ENSP00000442324.2:p.Ala337Thr
ENST00000679509.1:n.2067G>A
ENST00000679530.1:c.*873G>A	ENSP00000506454.1:n.*873G>A
ENST00000679615.1:n.3120G>A
ENST00000679687.1:c.667G>A	ENSP00000506598.1:p.Ala223Thr
ENST00000679704.1:c.*871G>A	ENSP00000505117.1:n.*871G>A
ENST00000679709.1:c.*1068G>A	ENSP00000506623.1:n.*1068G>A
ENST00000679976.1:c.*689G>A	ENSP00000505565.1:n.*689G>A
ENST00000680166.1:n.4394G>A
ENST00000680315.1:n.988G>A
ENST00000680517.1:c.*493G>A	ENSP00000505803.1:n.*493G>A
ENST00000680582.1:n.2067G>A
ENST00000680613.1:c.*598G>A	ENSP00000506114.1:n.*598G>A
ENST00000680662.1:c.*1019G>A	ENSP00000505080.1:n.*1019G>A
ENST00000680691.1:c.*768G>A	ENSP00000506487.1:n.*768G>A
ENST00000680694.1:c.*693G>A	ENSP00000505658.1:n.*693G>A
ENST00000680743.1:c.*894G>A	ENSP00000505073.1:n.*894G>A
ENST00000680749.1:c.*390G>A	ENSP00000505122.1:n.*390G>A
ENST00000680798.1:c.*580G>A	ENSP00000505670.1:n.*580G>A
ENST00000680805.1:c.964G>A	ENSP00000505447.1:p.Ala322Thr
ENST00000680844.1:c.*889G>A	ENSP00000506541.1:n.*889G>A
ENST00000680948.1:c.*972G>A	ENSP00000505441.1:n.*972G>A
ENST00000680964.1:c.*198G>A	ENSP00000505961.1:n.*198G>A
ENST00000681037.1:c.*2589G>A	ENSP00000506025.1:n.*2589G>A
ENST00000681063.1:c.*374G>A	ENSP00000506616.1:n.*374G>A
ENST00000681209.1:c.*760G>A	ENSP00000505877.1:n.*760G>A
ENST00000681278.1:n.1807G>A
ENST00000681289.1:n.5100G>A
ENST00000681361.1:c.*772G>A	ENSP00000506679.1:n.*772G>A
ENST00000681430.1:c.*198G>A	ENSP00000506301.1:n.*198G>A
ENST00000681446.1:c.*809G>A	ENSP00000506244.1:n.*809G>A
ENST00000681450.1:c.*776G>A	ENSP00000505660.1:n.*776G>A
ENST00000681548.1:c.*691G>A	ENSP00000505275.1:n.*691G>A
ENST00000681616.1:c.*764G>A	ENSP00000505111.1:n.*764G>A
ENST00000681621.1:c.*689G>A	ENSP00000505770.1:n.*689G>A
ENST00000681680.1:n.3200G>A
ENST00000681720.1:c.*560G>A	ENSP00000505438.1:n.*560G>A
ENST00000681730.1:n.1327G>A
ENST00000681790.1:c.847G>A	ENSP00000505130.1:p.Ala283Thr
ENST00000681837.1:n.1721G>A
ENST00000681913.1:n.3351G>A
ENST00000681916.1:c.*873G>A	ENSP00000506477.1:n.*873G>A
ENST00000681930.1:n.3229G>A
ENST00000370834.9:c.1204G>A	ENSP00000359871.5:p.Ala402Thr
ENST00000370841.8:c.1105G>A	ENSP00000359878.4:p.Ala369Thr
ENST00000420607.6:c.1117G>A	ENSP00000409612.2:p.Ala373Thr
ENST00000481374.1:n.378G>A
ENST00000525808.5:c.*691G>A	ENSP00000434823.1:n.*691G>A
ENST00000526129.5:c.*889G>A	ENSP00000434092.1:n.*889G>A
ENST00000526196.5:c.*873G>A	ENSP00000431953.1:n.*873G>A
ENST00000528016.1:c.160-7896G>A	ENSP00000434284.1:n.160-7896G>A
ENST00000529059.5:n.1014G>A
ENST00000541113.5:c.997G>A	ENSP00000442324.1:p.Ala333Thr
NM_000016.5:c.1105G>A	NP_000007.1:p.Ala369Thr
NM_001127328.2:c.1117G>A	NP_001120800.1:p.Ala373Thr
NM_001286042.1:c.997G>A	NP_001272971.1:p.Ala333Thr
NM_001286043.1:c.1204G>A	NP_001272972.1:p.Ala402Thr
NM_001286044.1:c.538G>A	NP_001272973.1:p.Ala180Thr
NM_000016.6:c.1105G>A MANE Select	NP_000007.1:p.Ala369Thr
NM_001127328.3:c.1117G>A	NP_001120800.1:p.Ala373Thr
NM_001286042.2:c.997G>A	NP_001272971.1:p.Ala333Thr
NM_001286043.2:c.1204G>A	NP_001272972.1:p.Ala402Thr
NM_001286044.2:c.538G>A	NP_001272973.1:p.Ala180Thr