Canonical Allele Identifier: CA523818613

Gene: ACADM

Linked Data

• dbSNP Id: rs1347060821
• gnomAD v2: 1-76215292-A-T
• gnomAD v4: 1-75749607-A-T
• MyVariant Identifiers: chr1:g.76215292A>T (hg19) ; chr1:g.75749607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749607A>T , CM000663.2:g.75749607A>T	GRCh38
NC_000001.10:g.76215292A>T , CM000663.1:g.76215292A>T	GRCh37
NC_000001.9:g.75987880A>T	NCBI36
NG_007045.2:g.30250A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.849+48A>T MANE Select	ENSP00000359878.5:n.849+48A>T
ENST00000473018.3:n.2973+48A>T
ENST00000532207.6:n.1738+48A>T
ENST00000541113.6:c.849+48A>T	ENSP00000442324.2:n.849+48A>T
ENST00000679509.1:n.1811+48A>T
ENST00000679530.1:c.*617+48A>T	ENSP00000506454.1:n.*617+48A>T
ENST00000679615.1:n.2864+48A>T
ENST00000679687.1:c.411+48A>T	ENSP00000506598.1:n.411+48A>T
ENST00000679704.1:c.*615+48A>T	ENSP00000505117.1:n.*615+48A>T
ENST00000679709.1:c.*812+48A>T	ENSP00000506623.1:n.*812+48A>T
ENST00000679976.1:c.*433+48A>T	ENSP00000505565.1:n.*433+48A>T
ENST00000680166.1:n.4138+48A>T
ENST00000680517.1:c.*237+48A>T	ENSP00000505803.1:n.*237+48A>T
ENST00000680582.1:n.1811+48A>T
ENST00000680613.1:c.*220+48A>T	ENSP00000506114.1:n.*220+48A>T
ENST00000680662.1:c.*763+48A>T	ENSP00000505080.1:n.*763+48A>T
ENST00000680691.1:c.*512+48A>T	ENSP00000506487.1:n.*512+48A>T
ENST00000680694.1:c.*437+48A>T	ENSP00000505658.1:n.*437+48A>T
ENST00000680743.1:c.*516+48A>T	ENSP00000505073.1:n.*516+48A>T
ENST00000680749.1:c.*134+48A>T	ENSP00000505122.1:n.*134+48A>T
ENST00000680798.1:c.*324+48A>T	ENSP00000505670.1:n.*324+48A>T
ENST00000680805.1:c.709-844A>T	ENSP00000505447.1:n.709-844A>T
ENST00000680844.1:c.*633+48A>T	ENSP00000506541.1:n.*633+48A>T
ENST00000680948.1:c.*716+48A>T	ENSP00000505441.1:n.*716+48A>T
ENST00000680964.1:c.849+48A>T	ENSP00000505961.1:n.849+48A>T
ENST00000681037.1:c.*2333+48A>T	ENSP00000506025.1:n.*2333+48A>T
ENST00000681063.1:c.600-844A>T	ENSP00000506616.1:n.600-844A>T
ENST00000681209.1:c.*504+48A>T	ENSP00000505877.1:n.*504+48A>T
ENST00000681278.1:n.1206+48A>T
ENST00000681289.1:n.4844+48A>T
ENST00000681361.1:c.*516+48A>T	ENSP00000506679.1:n.*516+48A>T
ENST00000681430.1:c.849+48A>T	ENSP00000506301.1:n.849+48A>T
ENST00000681446.1:c.*431+48A>T	ENSP00000506244.1:n.*431+48A>T
ENST00000681450.1:c.*520+48A>T	ENSP00000505660.1:n.*520+48A>T
ENST00000681548.1:c.*435+48A>T	ENSP00000505275.1:n.*435+48A>T
ENST00000681616.1:c.*508+48A>T	ENSP00000505111.1:n.*508+48A>T
ENST00000681621.1:c.*433+48A>T	ENSP00000505770.1:n.*433+48A>T
ENST00000681680.1:n.2944+48A>T
ENST00000681720.1:c.*304+48A>T	ENSP00000505438.1:n.*304+48A>T
ENST00000681730.1:n.1071+48A>T
ENST00000681790.1:c.591+48A>T	ENSP00000505130.1:n.591+48A>T
ENST00000681837.1:n.1465+48A>T
ENST00000681913.1:n.2973+48A>T
ENST00000681916.1:c.*617+48A>T	ENSP00000506477.1:n.*617+48A>T
ENST00000681930.1:n.2973+48A>T
ENST00000370834.9:c.948+48A>T	ENSP00000359871.5:n.948+48A>T
ENST00000370841.8:c.849+48A>T	ENSP00000359878.4:n.849+48A>T
ENST00000420607.6:c.861+48A>T	ENSP00000409612.2:n.861+48A>T
ENST00000525808.5:c.*435+48A>T	ENSP00000434823.1:n.*435+48A>T
ENST00000526129.5:c.*633+48A>T	ENSP00000434092.1:n.*633+48A>T
ENST00000526196.5:c.*617+48A>T	ENSP00000431953.1:n.*617+48A>T
ENST00000528016.1:c.63+48A>T	ENSP00000434284.1:n.63+48A>T
ENST00000529059.5:n.758+48A>T
ENST00000532207.5:n.579+48A>T
ENST00000534334.5:c.*433+48A>T	ENSP00000435584.1:n.*433+48A>T
ENST00000541113.5:c.741+48A>T	ENSP00000442324.1:n.741+48A>T
NM_000016.5:c.849+48A>T	NP_000007.1:n.849+48A>T
NM_001127328.2:c.861+48A>T	NP_001120800.1:n.861+48A>T
NM_001286042.1:c.741+48A>T	NP_001272971.1:n.741+48A>T
NM_001286043.1:c.948+48A>T	NP_001272972.1:n.948+48A>T
NM_001286044.1:c.282+48A>T	NP_001272973.1:n.282+48A>T
NM_000016.6:c.849+48A>T MANE Select	NP_000007.1:n.849+48A>T
NM_001127328.3:c.861+48A>T	NP_001120800.1:n.861+48A>T
NM_001286042.2:c.741+48A>T	NP_001272971.1:n.741+48A>T
NM_001286043.2:c.948+48A>T	NP_001272972.1:n.948+48A>T
NM_001286044.2:c.282+48A>T	NP_001272973.1:n.282+48A>T