Canonical Allele Identifier: CA340817021

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216170C>T (hg19) ; chr1:g.75750485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750485C>T , CM000663.2:g.75750485C>T	GRCh38
NC_000001.10:g.76216170C>T , CM000663.1:g.76216170C>T	GRCh37
NC_000001.9:g.75988758C>T	NCBI36
NG_007045.2:g.31128C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.884C>T MANE Select	ENSP00000359878.5:p.Ala295Val
ENST00000473018.3:n.3008C>T
ENST00000532207.6:n.1773C>T
ENST00000541113.6:c.849+926C>T	ENSP00000442324.2:n.849+926C>T
ENST00000679509.1:n.1846C>T
ENST00000679530.1:c.*652C>T	ENSP00000506454.1:n.*652C>T
ENST00000679615.1:n.2899C>T
ENST00000679687.1:c.446C>T	ENSP00000506598.1:p.Ala149Val
ENST00000679704.1:c.*650C>T	ENSP00000505117.1:n.*650C>T
ENST00000679709.1:c.*847C>T	ENSP00000506623.1:n.*847C>T
ENST00000679976.1:c.*468C>T	ENSP00000505565.1:n.*468C>T
ENST00000680166.1:n.4173C>T
ENST00000680315.1:n.767C>T
ENST00000680517.1:c.*272C>T	ENSP00000505803.1:n.*272C>T
ENST00000680582.1:n.1846C>T
ENST00000680613.1:c.*255C>T	ENSP00000506114.1:n.*255C>T
ENST00000680662.1:c.*798C>T	ENSP00000505080.1:n.*798C>T
ENST00000680691.1:c.*547C>T	ENSP00000506487.1:n.*547C>T
ENST00000680694.1:c.*472C>T	ENSP00000505658.1:n.*472C>T
ENST00000680743.1:c.*551C>T	ENSP00000505073.1:n.*551C>T
ENST00000680749.1:c.*169C>T	ENSP00000505122.1:n.*169C>T
ENST00000680798.1:c.*359C>T	ENSP00000505670.1:n.*359C>T
ENST00000680805.1:c.743C>T	ENSP00000505447.1:p.Ala248Val
ENST00000680844.1:c.*668C>T	ENSP00000506541.1:n.*668C>T
ENST00000680948.1:c.*751C>T	ENSP00000505441.1:n.*751C>T
ENST00000680964.1:c.884C>T	ENSP00000505961.1:p.Ala295Val
ENST00000681037.1:c.*2368C>T	ENSP00000506025.1:n.*2368C>T
ENST00000681063.1:c.*31C>T	ENSP00000506616.1:n.*31C>T
ENST00000681209.1:c.*539C>T	ENSP00000505877.1:n.*539C>T
ENST00000681278.1:n.1241C>T
ENST00000681289.1:n.4879C>T
ENST00000681361.1:c.*551C>T	ENSP00000506679.1:n.*551C>T
ENST00000681430.1:c.884C>T	ENSP00000506301.1:p.Ala295Val
ENST00000681446.1:c.*466C>T	ENSP00000506244.1:n.*466C>T
ENST00000681450.1:c.*555C>T	ENSP00000505660.1:n.*555C>T
ENST00000681548.1:c.*470C>T	ENSP00000505275.1:n.*470C>T
ENST00000681616.1:c.*543C>T	ENSP00000505111.1:n.*543C>T
ENST00000681621.1:c.*468C>T	ENSP00000505770.1:n.*468C>T
ENST00000681680.1:n.2979C>T
ENST00000681720.1:c.*339C>T	ENSP00000505438.1:n.*339C>T
ENST00000681730.1:n.1106C>T
ENST00000681790.1:c.626C>T	ENSP00000505130.1:p.Ala209Val
ENST00000681837.1:n.1500C>T
ENST00000681913.1:n.3008C>T
ENST00000681916.1:c.*652C>T	ENSP00000506477.1:n.*652C>T
ENST00000681930.1:n.3008C>T
ENST00000370834.9:c.983C>T	ENSP00000359871.5:p.Ala328Val
ENST00000370841.8:c.884C>T	ENSP00000359878.4:p.Ala295Val
ENST00000420607.6:c.896C>T	ENSP00000409612.2:p.Ala299Val
ENST00000481374.1:n.35C>T
ENST00000525808.5:c.*470C>T	ENSP00000434823.1:n.*470C>T
ENST00000526129.5:c.*668C>T	ENSP00000434092.1:n.*668C>T
ENST00000526196.5:c.*652C>T	ENSP00000431953.1:n.*652C>T
ENST00000528016.1:c.98C>T	ENSP00000434284.1:p.Ala33Val
ENST00000529059.5:n.793C>T
ENST00000532207.5:n.614C>T
ENST00000534334.5:c.*468C>T	ENSP00000435584.1:n.*468C>T
ENST00000541113.5:c.776C>T	ENSP00000442324.1:p.Ala259Val
NM_000016.5:c.884C>T	NP_000007.1:p.Ala295Val
NM_001127328.2:c.896C>T	NP_001120800.1:p.Ala299Val
NM_001286042.1:c.776C>T	NP_001272971.1:p.Ala259Val
NM_001286043.1:c.983C>T	NP_001272972.1:p.Ala328Val
NM_001286044.1:c.317C>T	NP_001272973.1:p.Ala106Val
NM_000016.6:c.884C>T MANE Select	NP_000007.1:p.Ala295Val
NM_001127328.3:c.896C>T	NP_001120800.1:p.Ala299Val
NM_001286042.2:c.776C>T	NP_001272971.1:p.Ala259Val
NM_001286043.2:c.983C>T	NP_001272972.1:p.Ala328Val
NM_001286044.2:c.317C>T	NP_001272973.1:p.Ala106Val