Canonical Allele Identifier: CA340816714

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215195G>C (hg19) ; chr1:g.75749510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749510G>C , CM000663.2:g.75749510G>C	GRCh38
NC_000001.10:g.76215195G>C , CM000663.1:g.76215195G>C	GRCh37
NC_000001.9:g.75987783G>C	NCBI36
NG_007045.2:g.30153G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.800G>C MANE Select	ENSP00000359878.5:p.Gly267Ala
ENST00000473018.3:n.2924G>C
ENST00000532207.6:n.1689G>C
ENST00000541113.6:c.800G>C	ENSP00000442324.2:p.Gly267Ala
ENST00000679509.1:n.1762G>C
ENST00000679530.1:c.*568G>C	ENSP00000506454.1:n.*568G>C
ENST00000679615.1:n.2815G>C
ENST00000679687.1:c.362G>C	ENSP00000506598.1:p.Gly121Ala
ENST00000679704.1:c.*566G>C	ENSP00000505117.1:n.*566G>C
ENST00000679709.1:c.*763G>C	ENSP00000506623.1:n.*763G>C
ENST00000679976.1:c.*384G>C	ENSP00000505565.1:n.*384G>C
ENST00000680166.1:n.4089G>C
ENST00000680517.1:c.*188G>C	ENSP00000505803.1:n.*188G>C
ENST00000680582.1:n.1762G>C
ENST00000680613.1:c.*171G>C	ENSP00000506114.1:n.*171G>C
ENST00000680662.1:c.*714G>C	ENSP00000505080.1:n.*714G>C
ENST00000680691.1:c.*463G>C	ENSP00000506487.1:n.*463G>C
ENST00000680694.1:c.*388G>C	ENSP00000505658.1:n.*388G>C
ENST00000680743.1:c.*467G>C	ENSP00000505073.1:n.*467G>C
ENST00000680749.1:c.*85G>C	ENSP00000505122.1:n.*85G>C
ENST00000680798.1:c.*275G>C	ENSP00000505670.1:n.*275G>C
ENST00000680805.1:c.709-941G>C	ENSP00000505447.1:n.709-941G>C
ENST00000680844.1:c.*584G>C	ENSP00000506541.1:n.*584G>C
ENST00000680948.1:c.*667G>C	ENSP00000505441.1:n.*667G>C
ENST00000680964.1:c.800G>C	ENSP00000505961.1:p.Gly267Ala
ENST00000681037.1:c.*2284G>C	ENSP00000506025.1:n.*2284G>C
ENST00000681063.1:c.600-941G>C	ENSP00000506616.1:n.600-941G>C
ENST00000681209.1:c.*455G>C	ENSP00000505877.1:n.*455G>C
ENST00000681278.1:n.1157G>C
ENST00000681289.1:n.4795G>C
ENST00000681361.1:c.*467G>C	ENSP00000506679.1:n.*467G>C
ENST00000681430.1:c.800G>C	ENSP00000506301.1:p.Gly267Ala
ENST00000681446.1:c.*382G>C	ENSP00000506244.1:n.*382G>C
ENST00000681450.1:c.*471G>C	ENSP00000505660.1:n.*471G>C
ENST00000681548.1:c.*386G>C	ENSP00000505275.1:n.*386G>C
ENST00000681616.1:c.*459G>C	ENSP00000505111.1:n.*459G>C
ENST00000681621.1:c.*384G>C	ENSP00000505770.1:n.*384G>C
ENST00000681680.1:n.2895G>C
ENST00000681720.1:c.*255G>C	ENSP00000505438.1:n.*255G>C
ENST00000681730.1:n.1022G>C
ENST00000681790.1:c.542G>C	ENSP00000505130.1:p.Gly181Ala
ENST00000681837.1:n.1416G>C
ENST00000681913.1:n.2924G>C
ENST00000681916.1:c.*568G>C	ENSP00000506477.1:n.*568G>C
ENST00000681930.1:n.2924G>C
ENST00000370834.9:c.899G>C	ENSP00000359871.5:p.Gly300Ala
ENST00000370841.8:c.800G>C	ENSP00000359878.4:p.Gly267Ala
ENST00000420607.6:c.812G>C	ENSP00000409612.2:p.Gly271Ala
ENST00000525808.5:c.*386G>C	ENSP00000434823.1:n.*386G>C
ENST00000526129.5:c.*584G>C	ENSP00000434092.1:n.*584G>C
ENST00000526196.5:c.*568G>C	ENSP00000431953.1:n.*568G>C
ENST00000526930.1:n.573G>C
ENST00000528016.1:c.14G>C	ENSP00000434284.1:p.Gly5Ala
ENST00000529059.5:n.709G>C
ENST00000530953.6:c.*297G>C	ENSP00000431372.1:n.*297G>C
ENST00000532207.5:n.530G>C
ENST00000532509.5:c.*564G>C	ENSP00000432522.1:n.*564G>C
ENST00000534334.5:c.*384G>C	ENSP00000435584.1:n.*384G>C
ENST00000541113.5:c.692G>C	ENSP00000442324.1:p.Gly231Ala
NM_000016.5:c.800G>C	NP_000007.1:p.Gly267Ala
NM_001127328.2:c.812G>C	NP_001120800.1:p.Gly271Ala
NM_001286042.1:c.692G>C	NP_001272971.1:p.Gly231Ala
NM_001286043.1:c.899G>C	NP_001272972.1:p.Gly300Ala
NM_001286044.1:c.233G>C	NP_001272973.1:p.Gly78Ala
NM_000016.6:c.800G>C MANE Select	NP_000007.1:p.Gly267Ala
NM_001127328.3:c.812G>C	NP_001120800.1:p.Gly271Ala
NM_001286042.2:c.692G>C	NP_001272971.1:p.Gly231Ala
NM_001286043.2:c.899G>C	NP_001272972.1:p.Gly300Ala
NM_001286044.2:c.233G>C	NP_001272973.1:p.Gly78Ala