Canonical Allele Identifier: CA340817913

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761156-C-T
• MyVariant Identifiers: chr1:g.76226841C>T (hg19) ; chr1:g.75761156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761156C>T , CM000663.2:g.75761156C>T	GRCh38
NC_000001.10:g.76226841C>T , CM000663.1:g.76226841C>T	GRCh37
NC_000001.9:g.75999429C>T	NCBI36
NG_007045.2:g.41799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.980C>T MANE Select	ENSP00000359878.5:p.Ala327Val
ENST00000473018.3:n.3104C>T
ENST00000532207.6:n.1991C>T
ENST00000541113.6:c.884C>T	ENSP00000442324.2:p.Ala295Val
ENST00000679509.1:n.1942C>T
ENST00000679530.1:c.*748C>T	ENSP00000506454.1:n.*748C>T
ENST00000679615.1:n.2995C>T
ENST00000679687.1:c.542C>T	ENSP00000506598.1:p.Ala181Val
ENST00000679704.1:c.*746C>T	ENSP00000505117.1:n.*746C>T
ENST00000679709.1:c.*943C>T	ENSP00000506623.1:n.*943C>T
ENST00000679976.1:c.*564C>T	ENSP00000505565.1:n.*564C>T
ENST00000680166.1:n.4269C>T
ENST00000680315.1:n.863C>T
ENST00000680517.1:c.*368C>T	ENSP00000505803.1:n.*368C>T
ENST00000680582.1:n.1942C>T
ENST00000680613.1:c.*473C>T	ENSP00000506114.1:n.*473C>T
ENST00000680662.1:c.*894C>T	ENSP00000505080.1:n.*894C>T
ENST00000680691.1:c.*643C>T	ENSP00000506487.1:n.*643C>T
ENST00000680694.1:c.*568C>T	ENSP00000505658.1:n.*568C>T
ENST00000680743.1:c.*769C>T	ENSP00000505073.1:n.*769C>T
ENST00000680749.1:c.*265C>T	ENSP00000505122.1:n.*265C>T
ENST00000680798.1:c.*455C>T	ENSP00000505670.1:n.*455C>T
ENST00000680805.1:c.839C>T	ENSP00000505447.1:p.Ala280Val
ENST00000680844.1:c.*764C>T	ENSP00000506541.1:n.*764C>T
ENST00000680948.1:c.*847C>T	ENSP00000505441.1:n.*847C>T
ENST00000680964.1:c.*73C>T	ENSP00000505961.1:n.*73C>T
ENST00000681037.1:c.*2464C>T	ENSP00000506025.1:n.*2464C>T
ENST00000681063.1:c.*249C>T	ENSP00000506616.1:n.*249C>T
ENST00000681209.1:c.*635C>T	ENSP00000505877.1:n.*635C>T
ENST00000681278.1:n.1682C>T
ENST00000681289.1:n.4975C>T
ENST00000681361.1:c.*647C>T	ENSP00000506679.1:n.*647C>T
ENST00000681430.1:c.*73C>T	ENSP00000506301.1:n.*73C>T
ENST00000681446.1:c.*684C>T	ENSP00000506244.1:n.*684C>T
ENST00000681450.1:c.*651C>T	ENSP00000505660.1:n.*651C>T
ENST00000681548.1:c.*566C>T	ENSP00000505275.1:n.*566C>T
ENST00000681616.1:c.*639C>T	ENSP00000505111.1:n.*639C>T
ENST00000681621.1:c.*564C>T	ENSP00000505770.1:n.*564C>T
ENST00000681680.1:n.3075C>T
ENST00000681720.1:c.*435C>T	ENSP00000505438.1:n.*435C>T
ENST00000681730.1:n.1202C>T
ENST00000681790.1:c.722C>T	ENSP00000505130.1:p.Ala241Val
ENST00000681837.1:n.1596C>T
ENST00000681913.1:n.3226C>T
ENST00000681916.1:c.*748C>T	ENSP00000506477.1:n.*748C>T
ENST00000681930.1:n.3104C>T
ENST00000370834.9:c.1079C>T	ENSP00000359871.5:p.Ala360Val
ENST00000370841.8:c.980C>T	ENSP00000359878.4:p.Ala327Val
ENST00000420607.6:c.992C>T	ENSP00000409612.2:p.Ala331Val
ENST00000481374.1:n.253C>T
ENST00000525808.5:c.*566C>T	ENSP00000434823.1:n.*566C>T
ENST00000526129.5:c.*764C>T	ENSP00000434092.1:n.*764C>T
ENST00000526196.5:c.*748C>T	ENSP00000431953.1:n.*748C>T
ENST00000528016.1:c.160-8021C>T	ENSP00000434284.1:n.160-8021C>T
ENST00000529059.5:n.889C>T
ENST00000532207.5:n.710C>T
ENST00000534334.5:c.*721C>T	ENSP00000435584.1:n.*721C>T
ENST00000541113.5:c.872C>T	ENSP00000442324.1:p.Ala291Val
NM_000016.5:c.980C>T	NP_000007.1:p.Ala327Val
NM_001127328.2:c.992C>T	NP_001120800.1:p.Ala331Val
NM_001286042.1:c.872C>T	NP_001272971.1:p.Ala291Val
NM_001286043.1:c.1079C>T	NP_001272972.1:p.Ala360Val
NM_001286044.1:c.413C>T	NP_001272973.1:p.Ala138Val
NM_000016.6:c.980C>T MANE Select	NP_000007.1:p.Ala327Val
NM_001127328.3:c.992C>T	NP_001120800.1:p.Ala331Val
NM_001286042.2:c.872C>T	NP_001272971.1:p.Ala291Val
NM_001286043.2:c.1079C>T	NP_001272972.1:p.Ala360Val
NM_001286044.2:c.413C>T	NP_001272973.1:p.Ala138Val