Canonical Allele Identifier: CA523819189

Gene: ACADM

Linked Data

• dbSNP Id: rs1453216819
• gnomAD v2: 1-76216272-C-T
• gnomAD v4: 1-75750587-C-T
• MyVariant Identifiers: chr1:g.76216272C>T (hg19) ; chr1:g.75750587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750587C>T , CM000663.2:g.75750587C>T	GRCh38
NC_000001.10:g.76216272C>T , CM000663.1:g.76216272C>T	GRCh37
NC_000001.9:g.75988860C>T	NCBI36
NG_007045.2:g.31230C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.945+41C>T MANE Select	ENSP00000359878.5:n.945+41C>T
ENST00000473018.3:n.3069+41C>T
ENST00000532207.6:n.1834+41C>T
ENST00000541113.6:c.849+1028C>T	ENSP00000442324.2:n.849+1028C>T
ENST00000679509.1:n.1907+41C>T
ENST00000679530.1:c.*713+41C>T	ENSP00000506454.1:n.*713+41C>T
ENST00000679615.1:n.2960+41C>T
ENST00000679687.1:c.507+41C>T	ENSP00000506598.1:n.507+41C>T
ENST00000679704.1:c.*711+41C>T	ENSP00000505117.1:n.*711+41C>T
ENST00000679709.1:c.*908+41C>T	ENSP00000506623.1:n.*908+41C>T
ENST00000679976.1:c.*529+41C>T	ENSP00000505565.1:n.*529+41C>T
ENST00000680166.1:n.4234+41C>T
ENST00000680315.1:n.828+41C>T
ENST00000680517.1:c.*333+41C>T	ENSP00000505803.1:n.*333+41C>T
ENST00000680582.1:n.1907+41C>T
ENST00000680613.1:c.*316+41C>T	ENSP00000506114.1:n.*316+41C>T
ENST00000680662.1:c.*859+41C>T	ENSP00000505080.1:n.*859+41C>T
ENST00000680691.1:c.*608+41C>T	ENSP00000506487.1:n.*608+41C>T
ENST00000680694.1:c.*533+41C>T	ENSP00000505658.1:n.*533+41C>T
ENST00000680743.1:c.*612+41C>T	ENSP00000505073.1:n.*612+41C>T
ENST00000680749.1:c.*230+41C>T	ENSP00000505122.1:n.*230+41C>T
ENST00000680798.1:c.*420+41C>T	ENSP00000505670.1:n.*420+41C>T
ENST00000680805.1:c.804+41C>T	ENSP00000505447.1:n.804+41C>T
ENST00000680844.1:c.*729+41C>T	ENSP00000506541.1:n.*729+41C>T
ENST00000680948.1:c.*812+41C>T	ENSP00000505441.1:n.*812+41C>T
ENST00000680964.1:c.945+41C>T	ENSP00000505961.1:n.945+41C>T
ENST00000681037.1:c.*2429+41C>T	ENSP00000506025.1:n.*2429+41C>T
ENST00000681063.1:c.*92+41C>T	ENSP00000506616.1:n.*92+41C>T
ENST00000681209.1:c.*600+41C>T	ENSP00000505877.1:n.*600+41C>T
ENST00000681278.1:n.1343C>T
ENST00000681289.1:n.4940+41C>T
ENST00000681361.1:c.*612+41C>T	ENSP00000506679.1:n.*612+41C>T
ENST00000681430.1:c.945+41C>T	ENSP00000506301.1:n.945+41C>T
ENST00000681446.1:c.*527+41C>T	ENSP00000506244.1:n.*527+41C>T
ENST00000681450.1:c.*616+41C>T	ENSP00000505660.1:n.*616+41C>T
ENST00000681548.1:c.*531+41C>T	ENSP00000505275.1:n.*531+41C>T
ENST00000681616.1:c.*604+41C>T	ENSP00000505111.1:n.*604+41C>T
ENST00000681621.1:c.*529+41C>T	ENSP00000505770.1:n.*529+41C>T
ENST00000681680.1:n.3040+41C>T
ENST00000681720.1:c.*400+41C>T	ENSP00000505438.1:n.*400+41C>T
ENST00000681730.1:n.1167+41C>T
ENST00000681790.1:c.687+41C>T	ENSP00000505130.1:n.687+41C>T
ENST00000681837.1:n.1561+41C>T
ENST00000681913.1:n.3069+41C>T
ENST00000681916.1:c.*713+41C>T	ENSP00000506477.1:n.*713+41C>T
ENST00000681930.1:n.3069+41C>T
ENST00000370834.9:c.1044+41C>T	ENSP00000359871.5:n.1044+41C>T
ENST00000370841.8:c.945+41C>T	ENSP00000359878.4:n.945+41C>T
ENST00000420607.6:c.957+41C>T	ENSP00000409612.2:n.957+41C>T
ENST00000481374.1:n.96+41C>T
ENST00000525808.5:c.*531+41C>T	ENSP00000434823.1:n.*531+41C>T
ENST00000526129.5:c.*729+41C>T	ENSP00000434092.1:n.*729+41C>T
ENST00000526196.5:c.*713+41C>T	ENSP00000431953.1:n.*713+41C>T
ENST00000528016.1:c.159+41C>T	ENSP00000434284.1:n.159+41C>T
ENST00000529059.5:n.854+41C>T
ENST00000532207.5:n.675+41C>T
ENST00000534334.5:c.*529+41C>T	ENSP00000435584.1:n.*529+41C>T
ENST00000541113.5:c.837+41C>T	ENSP00000442324.1:n.837+41C>T
NM_000016.5:c.945+41C>T	NP_000007.1:n.945+41C>T
NM_001127328.2:c.957+41C>T	NP_001120800.1:n.957+41C>T
NM_001286042.1:c.837+41C>T	NP_001272971.1:n.837+41C>T
NM_001286043.1:c.1044+41C>T	NP_001272972.1:n.1044+41C>T
NM_001286044.1:c.378+41C>T	NP_001272973.1:n.378+41C>T
NM_000016.6:c.945+41C>T MANE Select	NP_000007.1:n.945+41C>T
NM_001127328.3:c.957+41C>T	NP_001120800.1:n.957+41C>T
NM_001286042.2:c.837+41C>T	NP_001272971.1:n.837+41C>T
NM_001286043.2:c.1044+41C>T	NP_001272972.1:n.1044+41C>T
NM_001286044.2:c.378+41C>T	NP_001272973.1:n.378+41C>T