Canonical Allele Identifier: CA10576243

Gene: ACADM

Linked Data

• ClinVar Variation Id: 226061
• ClinVar RCV Id: RCV000211487
• dbSNP Id: rs875989856
• MyVariant Identifiers: chr1:g.76226918T>G (hg19) ; chr1:g.75761233T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761233T>G , CM000663.2:g.75761233T>G	GRCh38
NC_000001.10:g.76226918T>G , CM000663.1:g.76226918T>G	GRCh37
NC_000001.9:g.75999506T>G	NCBI36
NG_007045.2:g.41876T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1057T>G MANE Select	ENSP00000359878.5:p.Tyr353Asp
ENST00000473018.3:n.3181T>G
ENST00000532207.6:n.2068T>G
ENST00000541113.6:c.961T>G	ENSP00000442324.2:p.Tyr321Asp
ENST00000679509.1:n.2019T>G
ENST00000679530.1:c.*825T>G	ENSP00000506454.1:n.*825T>G
ENST00000679615.1:n.3072T>G
ENST00000679687.1:c.619T>G	ENSP00000506598.1:p.Tyr207Asp
ENST00000679704.1:c.*823T>G	ENSP00000505117.1:n.*823T>G
ENST00000679709.1:c.*1020T>G	ENSP00000506623.1:n.*1020T>G
ENST00000679976.1:c.*641T>G	ENSP00000505565.1:n.*641T>G
ENST00000680166.1:n.4346T>G
ENST00000680315.1:n.940T>G
ENST00000680517.1:c.*445T>G	ENSP00000505803.1:n.*445T>G
ENST00000680582.1:n.2019T>G
ENST00000680613.1:c.*550T>G	ENSP00000506114.1:n.*550T>G
ENST00000680662.1:c.*971T>G	ENSP00000505080.1:n.*971T>G
ENST00000680691.1:c.*720T>G	ENSP00000506487.1:n.*720T>G
ENST00000680694.1:c.*645T>G	ENSP00000505658.1:n.*645T>G
ENST00000680743.1:c.*846T>G	ENSP00000505073.1:n.*846T>G
ENST00000680749.1:c.*342T>G	ENSP00000505122.1:n.*342T>G
ENST00000680798.1:c.*532T>G	ENSP00000505670.1:n.*532T>G
ENST00000680805.1:c.916T>G	ENSP00000505447.1:p.Tyr306Asp
ENST00000680844.1:c.*841T>G	ENSP00000506541.1:n.*841T>G
ENST00000680948.1:c.*924T>G	ENSP00000505441.1:n.*924T>G
ENST00000680964.1:c.*150T>G	ENSP00000505961.1:n.*150T>G
ENST00000681037.1:c.*2541T>G	ENSP00000506025.1:n.*2541T>G
ENST00000681063.1:c.*326T>G	ENSP00000506616.1:n.*326T>G
ENST00000681209.1:c.*712T>G	ENSP00000505877.1:n.*712T>G
ENST00000681278.1:n.1759T>G
ENST00000681289.1:n.5052T>G
ENST00000681361.1:c.*724T>G	ENSP00000506679.1:n.*724T>G
ENST00000681430.1:c.*150T>G	ENSP00000506301.1:n.*150T>G
ENST00000681446.1:c.*761T>G	ENSP00000506244.1:n.*761T>G
ENST00000681450.1:c.*728T>G	ENSP00000505660.1:n.*728T>G
ENST00000681548.1:c.*643T>G	ENSP00000505275.1:n.*643T>G
ENST00000681616.1:c.*716T>G	ENSP00000505111.1:n.*716T>G
ENST00000681621.1:c.*641T>G	ENSP00000505770.1:n.*641T>G
ENST00000681680.1:n.3152T>G
ENST00000681720.1:c.*512T>G	ENSP00000505438.1:n.*512T>G
ENST00000681730.1:n.1279T>G
ENST00000681790.1:c.799T>G	ENSP00000505130.1:p.Tyr267Asp
ENST00000681837.1:n.1673T>G
ENST00000681913.1:n.3303T>G
ENST00000681916.1:c.*825T>G	ENSP00000506477.1:n.*825T>G
ENST00000681930.1:n.3181T>G
ENST00000370834.9:c.1156T>G	ENSP00000359871.5:p.Tyr386Asp
ENST00000370841.8:c.1057T>G	ENSP00000359878.4:p.Tyr353Asp
ENST00000420607.6:c.1069T>G	ENSP00000409612.2:p.Tyr357Asp
ENST00000481374.1:n.330T>G
ENST00000525808.5:c.*643T>G	ENSP00000434823.1:n.*643T>G
ENST00000526129.5:c.*841T>G	ENSP00000434092.1:n.*841T>G
ENST00000526196.5:c.*825T>G	ENSP00000431953.1:n.*825T>G
ENST00000528016.1:c.160-7944T>G	ENSP00000434284.1:n.160-7944T>G
ENST00000529059.5:n.966T>G
ENST00000534334.5:c.*798T>G	ENSP00000435584.1:n.*798T>G
ENST00000541113.5:c.949T>G	ENSP00000442324.1:p.Tyr317Asp
NM_000016.5:c.1057T>G	NP_000007.1:p.Tyr353Asp
NM_001127328.2:c.1069T>G	NP_001120800.1:p.Tyr357Asp
NM_001286042.1:c.949T>G	NP_001272971.1:p.Tyr317Asp
NM_001286043.1:c.1156T>G	NP_001272972.1:p.Tyr386Asp
NM_001286044.1:c.490T>G	NP_001272973.1:p.Tyr164Asp
NM_000016.6:c.1057T>G MANE Select	NP_000007.1:p.Tyr353Asp
NM_001127328.3:c.1069T>G	NP_001120800.1:p.Tyr357Asp
NM_001286042.2:c.949T>G	NP_001272971.1:p.Tyr317Asp
NM_001286043.2:c.1156T>G	NP_001272972.1:p.Tyr386Asp
NM_001286044.2:c.490T>G	NP_001272973.1:p.Tyr164Asp