Canonical Allele Identifier: CA340816791

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215222C>T (hg19) ; chr1:g.75749537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749537C>T , CM000663.2:g.75749537C>T	GRCh38
NC_000001.10:g.76215222C>T , CM000663.1:g.76215222C>T	GRCh37
NC_000001.9:g.75987810C>T	NCBI36
NG_007045.2:g.30180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.827C>T MANE Select	ENSP00000359878.5:p.Ala276Val
ENST00000473018.3:n.2951C>T
ENST00000532207.6:n.1716C>T
ENST00000541113.6:c.827C>T	ENSP00000442324.2:p.Ala276Val
ENST00000679509.1:n.1789C>T
ENST00000679530.1:c.*595C>T	ENSP00000506454.1:n.*595C>T
ENST00000679615.1:n.2842C>T
ENST00000679687.1:c.389C>T	ENSP00000506598.1:p.Ala130Val
ENST00000679704.1:c.*593C>T	ENSP00000505117.1:n.*593C>T
ENST00000679709.1:c.*790C>T	ENSP00000506623.1:n.*790C>T
ENST00000679976.1:c.*411C>T	ENSP00000505565.1:n.*411C>T
ENST00000680166.1:n.4116C>T
ENST00000680517.1:c.*215C>T	ENSP00000505803.1:n.*215C>T
ENST00000680582.1:n.1789C>T
ENST00000680613.1:c.*198C>T	ENSP00000506114.1:n.*198C>T
ENST00000680662.1:c.*741C>T	ENSP00000505080.1:n.*741C>T
ENST00000680691.1:c.*490C>T	ENSP00000506487.1:n.*490C>T
ENST00000680694.1:c.*415C>T	ENSP00000505658.1:n.*415C>T
ENST00000680743.1:c.*494C>T	ENSP00000505073.1:n.*494C>T
ENST00000680749.1:c.*112C>T	ENSP00000505122.1:n.*112C>T
ENST00000680798.1:c.*302C>T	ENSP00000505670.1:n.*302C>T
ENST00000680805.1:c.709-914C>T	ENSP00000505447.1:n.709-914C>T
ENST00000680844.1:c.*611C>T	ENSP00000506541.1:n.*611C>T
ENST00000680948.1:c.*694C>T	ENSP00000505441.1:n.*694C>T
ENST00000680964.1:c.827C>T	ENSP00000505961.1:p.Ala276Val
ENST00000681037.1:c.*2311C>T	ENSP00000506025.1:n.*2311C>T
ENST00000681063.1:c.600-914C>T	ENSP00000506616.1:n.600-914C>T
ENST00000681209.1:c.*482C>T	ENSP00000505877.1:n.*482C>T
ENST00000681278.1:n.1184C>T
ENST00000681289.1:n.4822C>T
ENST00000681361.1:c.*494C>T	ENSP00000506679.1:n.*494C>T
ENST00000681430.1:c.827C>T	ENSP00000506301.1:p.Ala276Val
ENST00000681446.1:c.*409C>T	ENSP00000506244.1:n.*409C>T
ENST00000681450.1:c.*498C>T	ENSP00000505660.1:n.*498C>T
ENST00000681548.1:c.*413C>T	ENSP00000505275.1:n.*413C>T
ENST00000681616.1:c.*486C>T	ENSP00000505111.1:n.*486C>T
ENST00000681621.1:c.*411C>T	ENSP00000505770.1:n.*411C>T
ENST00000681680.1:n.2922C>T
ENST00000681720.1:c.*282C>T	ENSP00000505438.1:n.*282C>T
ENST00000681730.1:n.1049C>T
ENST00000681790.1:c.569C>T	ENSP00000505130.1:p.Ala190Val
ENST00000681837.1:n.1443C>T
ENST00000681913.1:n.2951C>T
ENST00000681916.1:c.*595C>T	ENSP00000506477.1:n.*595C>T
ENST00000681930.1:n.2951C>T
ENST00000370834.9:c.926C>T	ENSP00000359871.5:p.Ala309Val
ENST00000370841.8:c.827C>T	ENSP00000359878.4:p.Ala276Val
ENST00000420607.6:c.839C>T	ENSP00000409612.2:p.Ala280Val
ENST00000525808.5:c.*413C>T	ENSP00000434823.1:n.*413C>T
ENST00000526129.5:c.*611C>T	ENSP00000434092.1:n.*611C>T
ENST00000526196.5:c.*595C>T	ENSP00000431953.1:n.*595C>T
ENST00000528016.1:c.41C>T	ENSP00000434284.1:p.Ala14Val
ENST00000529059.5:n.736C>T
ENST00000530953.6:c.*324C>T	ENSP00000431372.1:n.*324C>T
ENST00000532207.5:n.557C>T
ENST00000532509.5:c.*591C>T	ENSP00000432522.1:n.*591C>T
ENST00000534334.5:c.*411C>T	ENSP00000435584.1:n.*411C>T
ENST00000541113.5:c.719C>T	ENSP00000442324.1:p.Ala240Val
NM_000016.5:c.827C>T	NP_000007.1:p.Ala276Val
NM_001127328.2:c.839C>T	NP_001120800.1:p.Ala280Val
NM_001286042.1:c.719C>T	NP_001272971.1:p.Ala240Val
NM_001286043.1:c.926C>T	NP_001272972.1:p.Ala309Val
NM_001286044.1:c.260C>T	NP_001272973.1:p.Ala87Val
NM_000016.6:c.827C>T MANE Select	NP_000007.1:p.Ala276Val
NM_001127328.3:c.839C>T	NP_001120800.1:p.Ala280Val
NM_001286042.2:c.719C>T	NP_001272971.1:p.Ala240Val
NM_001286043.2:c.926C>T	NP_001272972.1:p.Ala309Val
NM_001286044.2:c.260C>T	NP_001272973.1:p.Ala87Val