Canonical Allele Identifier: CA340818125

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226940T>G (hg19) ; chr1:g.75761255T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761255T>G , CM000663.2:g.75761255T>G	GRCh38
NC_000001.10:g.76226940T>G , CM000663.1:g.76226940T>G	GRCh37
NC_000001.9:g.75999528T>G	NCBI36
NG_007045.2:g.41898T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1079T>G MANE Select	ENSP00000359878.5:p.Phe360Cys
ENST00000473018.3:n.3203T>G
ENST00000532207.6:n.2090T>G
ENST00000541113.6:c.983T>G	ENSP00000442324.2:p.Phe328Cys
ENST00000679509.1:n.2041T>G
ENST00000679530.1:c.*847T>G	ENSP00000506454.1:n.*847T>G
ENST00000679615.1:n.3094T>G
ENST00000679687.1:c.641T>G	ENSP00000506598.1:p.Phe214Cys
ENST00000679704.1:c.*845T>G	ENSP00000505117.1:n.*845T>G
ENST00000679709.1:c.*1042T>G	ENSP00000506623.1:n.*1042T>G
ENST00000679976.1:c.*663T>G	ENSP00000505565.1:n.*663T>G
ENST00000680166.1:n.4368T>G
ENST00000680315.1:n.962T>G
ENST00000680517.1:c.*467T>G	ENSP00000505803.1:n.*467T>G
ENST00000680582.1:n.2041T>G
ENST00000680613.1:c.*572T>G	ENSP00000506114.1:n.*572T>G
ENST00000680662.1:c.*993T>G	ENSP00000505080.1:n.*993T>G
ENST00000680691.1:c.*742T>G	ENSP00000506487.1:n.*742T>G
ENST00000680694.1:c.*667T>G	ENSP00000505658.1:n.*667T>G
ENST00000680743.1:c.*868T>G	ENSP00000505073.1:n.*868T>G
ENST00000680749.1:c.*364T>G	ENSP00000505122.1:n.*364T>G
ENST00000680798.1:c.*554T>G	ENSP00000505670.1:n.*554T>G
ENST00000680805.1:c.938T>G	ENSP00000505447.1:p.Phe313Cys
ENST00000680844.1:c.*863T>G	ENSP00000506541.1:n.*863T>G
ENST00000680948.1:c.*946T>G	ENSP00000505441.1:n.*946T>G
ENST00000680964.1:c.*172T>G	ENSP00000505961.1:n.*172T>G
ENST00000681037.1:c.*2563T>G	ENSP00000506025.1:n.*2563T>G
ENST00000681063.1:c.*348T>G	ENSP00000506616.1:n.*348T>G
ENST00000681209.1:c.*734T>G	ENSP00000505877.1:n.*734T>G
ENST00000681278.1:n.1781T>G
ENST00000681289.1:n.5074T>G
ENST00000681361.1:c.*746T>G	ENSP00000506679.1:n.*746T>G
ENST00000681430.1:c.*172T>G	ENSP00000506301.1:n.*172T>G
ENST00000681446.1:c.*783T>G	ENSP00000506244.1:n.*783T>G
ENST00000681450.1:c.*750T>G	ENSP00000505660.1:n.*750T>G
ENST00000681548.1:c.*665T>G	ENSP00000505275.1:n.*665T>G
ENST00000681616.1:c.*738T>G	ENSP00000505111.1:n.*738T>G
ENST00000681621.1:c.*663T>G	ENSP00000505770.1:n.*663T>G
ENST00000681680.1:n.3174T>G
ENST00000681720.1:c.*534T>G	ENSP00000505438.1:n.*534T>G
ENST00000681730.1:n.1301T>G
ENST00000681790.1:c.821T>G	ENSP00000505130.1:p.Phe274Cys
ENST00000681837.1:n.1695T>G
ENST00000681913.1:n.3325T>G
ENST00000681916.1:c.*847T>G	ENSP00000506477.1:n.*847T>G
ENST00000681930.1:n.3203T>G
ENST00000370834.9:c.1178T>G	ENSP00000359871.5:p.Phe393Cys
ENST00000370841.8:c.1079T>G	ENSP00000359878.4:p.Phe360Cys
ENST00000420607.6:c.1091T>G	ENSP00000409612.2:p.Phe364Cys
ENST00000481374.1:n.352T>G
ENST00000525808.5:c.*665T>G	ENSP00000434823.1:n.*665T>G
ENST00000526129.5:c.*863T>G	ENSP00000434092.1:n.*863T>G
ENST00000526196.5:c.*847T>G	ENSP00000431953.1:n.*847T>G
ENST00000528016.1:c.160-7922T>G	ENSP00000434284.1:n.160-7922T>G
ENST00000529059.5:n.988T>G
ENST00000541113.5:c.971T>G	ENSP00000442324.1:p.Phe324Cys
NM_000016.5:c.1079T>G	NP_000007.1:p.Phe360Cys
NM_001127328.2:c.1091T>G	NP_001120800.1:p.Phe364Cys
NM_001286042.1:c.971T>G	NP_001272971.1:p.Phe324Cys
NM_001286043.1:c.1178T>G	NP_001272972.1:p.Phe393Cys
NM_001286044.1:c.512T>G	NP_001272973.1:p.Phe171Cys
NM_000016.6:c.1079T>G MANE Select	NP_000007.1:p.Phe360Cys
NM_001127328.3:c.1091T>G	NP_001120800.1:p.Phe364Cys
NM_001286042.2:c.971T>G	NP_001272971.1:p.Phe324Cys
NM_001286043.2:c.1178T>G	NP_001272972.1:p.Phe393Cys
NM_001286044.2:c.512T>G	NP_001272973.1:p.Phe171Cys