Canonical Allele Identifier: CA340816525

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2438805
• ClinVar RCV Id: RCV003139557
• dbSNP Id: rs1648075610
• gnomAD v3: 1-75749429-T-C
• gnomAD v4: 1-75749429-T-C
• MyVariant Identifiers: chr1:g.76215114T>C (hg19) ; chr1:g.75749429T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749429T>C , CM000663.2:g.75749429T>C	GRCh38
NC_000001.10:g.76215114T>C , CM000663.1:g.76215114T>C	GRCh37
NC_000001.9:g.75987702T>C	NCBI36
NG_007045.2:g.30072T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.719T>C MANE Select	ENSP00000359878.5:p.Met240Thr
ENST00000473018.3:n.2843T>C
ENST00000532207.6:n.1608T>C
ENST00000541113.6:c.719T>C	ENSP00000442324.2:p.Met240Thr
ENST00000679509.1:n.1681T>C
ENST00000679530.1:c.*487T>C	ENSP00000506454.1:n.*487T>C
ENST00000679615.1:n.2734T>C
ENST00000679687.1:c.281T>C	ENSP00000506598.1:p.Met94Thr
ENST00000679704.1:c.*485T>C	ENSP00000505117.1:n.*485T>C
ENST00000679709.1:c.*682T>C	ENSP00000506623.1:n.*682T>C
ENST00000679976.1:c.*303T>C	ENSP00000505565.1:n.*303T>C
ENST00000680166.1:n.4008T>C
ENST00000680517.1:c.*107T>C	ENSP00000505803.1:n.*107T>C
ENST00000680582.1:n.1681T>C
ENST00000680613.1:c.*90T>C	ENSP00000506114.1:n.*90T>C
ENST00000680662.1:c.*633T>C	ENSP00000505080.1:n.*633T>C
ENST00000680691.1:c.*382T>C	ENSP00000506487.1:n.*382T>C
ENST00000680694.1:c.*307T>C	ENSP00000505658.1:n.*307T>C
ENST00000680743.1:c.*386T>C	ENSP00000505073.1:n.*386T>C
ENST00000680749.1:c.*4T>C	ENSP00000505122.1:n.*4T>C
ENST00000680798.1:c.*194T>C	ENSP00000505670.1:n.*194T>C
ENST00000680805.1:c.709-1022T>C	ENSP00000505447.1:n.709-1022T>C
ENST00000680844.1:c.*503T>C	ENSP00000506541.1:n.*503T>C
ENST00000680948.1:c.*586T>C	ENSP00000505441.1:n.*586T>C
ENST00000680964.1:c.719T>C	ENSP00000505961.1:p.Met240Thr
ENST00000681037.1:c.*2203T>C	ENSP00000506025.1:n.*2203T>C
ENST00000681063.1:c.600-1022T>C	ENSP00000506616.1:n.600-1022T>C
ENST00000681209.1:c.*374T>C	ENSP00000505877.1:n.*374T>C
ENST00000681278.1:n.1076T>C
ENST00000681289.1:n.4714T>C
ENST00000681361.1:c.*386T>C	ENSP00000506679.1:n.*386T>C
ENST00000681430.1:c.719T>C	ENSP00000506301.1:p.Met240Thr
ENST00000681446.1:c.*301T>C	ENSP00000506244.1:n.*301T>C
ENST00000681450.1:c.*390T>C	ENSP00000505660.1:n.*390T>C
ENST00000681548.1:c.*305T>C	ENSP00000505275.1:n.*305T>C
ENST00000681616.1:c.*378T>C	ENSP00000505111.1:n.*378T>C
ENST00000681621.1:c.*303T>C	ENSP00000505770.1:n.*303T>C
ENST00000681680.1:n.2814T>C
ENST00000681720.1:c.*174T>C	ENSP00000505438.1:n.*174T>C
ENST00000681730.1:n.941T>C
ENST00000681790.1:c.461T>C	ENSP00000505130.1:p.Met154Thr
ENST00000681837.1:n.1335T>C
ENST00000681913.1:n.2843T>C
ENST00000681916.1:c.*487T>C	ENSP00000506477.1:n.*487T>C
ENST00000681930.1:n.2843T>C
ENST00000370834.9:c.818T>C	ENSP00000359871.5:p.Met273Thr
ENST00000370841.8:c.719T>C	ENSP00000359878.4:p.Met240Thr
ENST00000420607.6:c.731T>C	ENSP00000409612.2:p.Met244Thr
ENST00000525808.5:c.*305T>C	ENSP00000434823.1:n.*305T>C
ENST00000526129.5:c.*503T>C	ENSP00000434092.1:n.*503T>C
ENST00000526196.5:c.*487T>C	ENSP00000431953.1:n.*487T>C
ENST00000526930.1:n.492T>C
ENST00000529059.5:n.628T>C
ENST00000530953.6:c.*216T>C	ENSP00000431372.1:n.*216T>C
ENST00000532207.5:n.449T>C
ENST00000532509.5:c.*483T>C	ENSP00000432522.1:n.*483T>C
ENST00000534334.5:c.*303T>C	ENSP00000435584.1:n.*303T>C
ENST00000541113.5:c.611T>C	ENSP00000442324.1:p.Met204Thr
NM_000016.5:c.719T>C	NP_000007.1:p.Met240Thr
NM_001127328.2:c.731T>C	NP_001120800.1:p.Met244Thr
NM_001286042.1:c.611T>C	NP_001272971.1:p.Met204Thr
NM_001286043.1:c.818T>C	NP_001272972.1:p.Met273Thr
NM_001286044.1:c.152T>C	NP_001272973.1:p.Met51Thr
NM_000016.6:c.719T>C MANE Select	NP_000007.1:p.Met240Thr
NM_001127328.3:c.731T>C	NP_001120800.1:p.Met244Thr
NM_001286042.2:c.611T>C	NP_001272971.1:p.Met204Thr
NM_001286043.2:c.818T>C	NP_001272972.1:p.Met273Thr
NM_001286044.2:c.152T>C	NP_001272973.1:p.Met51Thr