Canonical Allele Identifier: CA418545040

Gene: ACADM

Linked Data

• dbSNP Id: rs1557458513
• gnomAD v4: 1-75750510-C-T
• MyVariant Identifiers: chr1:g.76216195C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750510C>T , CM000663.2:g.75750510C>T	GRCh38
NC_000001.10:g.76216195C>T , CM000663.1:g.76216195C>T	GRCh37
NC_000001.9:g.75988783C>T	NCBI36
NG_007045.2:g.31153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.909C>T MANE Select	ENSP00000359878.5:p.Ala303=
ENST00000473018.3:n.3033C>T
ENST00000532207.6:n.1798C>T
ENST00000541113.6:c.849+951C>T	ENSP00000442324.2:n.849+951C>T
ENST00000679509.1:n.1871C>T
ENST00000679530.1:c.*677C>T	ENSP00000506454.1:n.*677C>T
ENST00000679615.1:n.2924C>T
ENST00000679687.1:c.471C>T	ENSP00000506598.1:p.Ala157=
ENST00000679704.1:c.*675C>T	ENSP00000505117.1:n.*675C>T
ENST00000679709.1:c.*872C>T	ENSP00000506623.1:n.*872C>T
ENST00000679976.1:c.*493C>T	ENSP00000505565.1:n.*493C>T
ENST00000680166.1:n.4198C>T
ENST00000680315.1:n.792C>T
ENST00000680517.1:c.*297C>T	ENSP00000505803.1:n.*297C>T
ENST00000680582.1:n.1871C>T
ENST00000680613.1:c.*280C>T	ENSP00000506114.1:n.*280C>T
ENST00000680662.1:c.*823C>T	ENSP00000505080.1:n.*823C>T
ENST00000680691.1:c.*572C>T	ENSP00000506487.1:n.*572C>T
ENST00000680694.1:c.*497C>T	ENSP00000505658.1:n.*497C>T
ENST00000680743.1:c.*576C>T	ENSP00000505073.1:n.*576C>T
ENST00000680749.1:c.*194C>T	ENSP00000505122.1:n.*194C>T
ENST00000680798.1:c.*384C>T	ENSP00000505670.1:n.*384C>T
ENST00000680805.1:c.768C>T	ENSP00000505447.1:p.Ala256=
ENST00000680844.1:c.*693C>T	ENSP00000506541.1:n.*693C>T
ENST00000680948.1:c.*776C>T	ENSP00000505441.1:n.*776C>T
ENST00000680964.1:c.909C>T	ENSP00000505961.1:p.Ala303=
ENST00000681037.1:c.*2393C>T	ENSP00000506025.1:n.*2393C>T
ENST00000681063.1:c.*56C>T	ENSP00000506616.1:n.*56C>T
ENST00000681209.1:c.*564C>T	ENSP00000505877.1:n.*564C>T
ENST00000681278.1:n.1266C>T
ENST00000681289.1:n.4904C>T
ENST00000681361.1:c.*576C>T	ENSP00000506679.1:n.*576C>T
ENST00000681430.1:c.909C>T	ENSP00000506301.1:p.Ala303=
ENST00000681446.1:c.*491C>T	ENSP00000506244.1:n.*491C>T
ENST00000681450.1:c.*580C>T	ENSP00000505660.1:n.*580C>T
ENST00000681548.1:c.*495C>T	ENSP00000505275.1:n.*495C>T
ENST00000681616.1:c.*568C>T	ENSP00000505111.1:n.*568C>T
ENST00000681621.1:c.*493C>T	ENSP00000505770.1:n.*493C>T
ENST00000681680.1:n.3004C>T
ENST00000681720.1:c.*364C>T	ENSP00000505438.1:n.*364C>T
ENST00000681730.1:n.1131C>T
ENST00000681790.1:c.651C>T	ENSP00000505130.1:p.Ala217=
ENST00000681837.1:n.1525C>T
ENST00000681913.1:n.3033C>T
ENST00000681916.1:c.*677C>T	ENSP00000506477.1:n.*677C>T
ENST00000681930.1:n.3033C>T
ENST00000370834.9:c.1008C>T	ENSP00000359871.5:p.Ala336=
ENST00000370841.8:c.909C>T	ENSP00000359878.4:p.Ala303=
ENST00000420607.6:c.921C>T	ENSP00000409612.2:p.Ala307=
ENST00000481374.1:n.60C>T
ENST00000525808.5:c.*495C>T	ENSP00000434823.1:n.*495C>T
ENST00000526129.5:c.*693C>T	ENSP00000434092.1:n.*693C>T
ENST00000526196.5:c.*677C>T	ENSP00000431953.1:n.*677C>T
ENST00000528016.1:c.123C>T	ENSP00000434284.1:p.Ala41=
ENST00000529059.5:n.818C>T
ENST00000532207.5:n.639C>T
ENST00000534334.5:c.*493C>T	ENSP00000435584.1:n.*493C>T
ENST00000541113.5:c.801C>T	ENSP00000442324.1:p.Ala267=
NM_000016.5:c.909C>T	NP_000007.1:p.Ala303=
NM_001127328.2:c.921C>T	NP_001120800.1:p.Ala307=
NM_001286042.1:c.801C>T	NP_001272971.1:p.Ala267=
NM_001286043.1:c.1008C>T	NP_001272972.1:p.Ala336=
NM_001286044.1:c.342C>T	NP_001272973.1:p.Ala114=
NM_000016.6:c.909C>T MANE Select	NP_000007.1:p.Ala303=
NM_001127328.3:c.921C>T	NP_001120800.1:p.Ala307=
NM_001286042.2:c.801C>T	NP_001272971.1:p.Ala267=
NM_001286043.2:c.1008C>T	NP_001272972.1:p.Ala336=
NM_001286044.2:c.342C>T	NP_001272973.1:p.Ala114=