Canonical Allele Identifier: CA340816637

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215167C>G (hg19) ; chr1:g.75749482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749482C>G , CM000663.2:g.75749482C>G	GRCh38
NC_000001.10:g.76215167C>G , CM000663.1:g.76215167C>G	GRCh37
NC_000001.9:g.75987755C>G	NCBI36
NG_007045.2:g.30125C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.772C>G MANE Select	ENSP00000359878.5:p.Pro258Ala
ENST00000473018.3:n.2896C>G
ENST00000532207.6:n.1661C>G
ENST00000541113.6:c.772C>G	ENSP00000442324.2:p.Pro258Ala
ENST00000679509.1:n.1734C>G
ENST00000679530.1:c.*540C>G	ENSP00000506454.1:n.*540C>G
ENST00000679615.1:n.2787C>G
ENST00000679687.1:c.334C>G	ENSP00000506598.1:p.Pro112Ala
ENST00000679704.1:c.*538C>G	ENSP00000505117.1:n.*538C>G
ENST00000679709.1:c.*735C>G	ENSP00000506623.1:n.*735C>G
ENST00000679976.1:c.*356C>G	ENSP00000505565.1:n.*356C>G
ENST00000680166.1:n.4061C>G
ENST00000680517.1:c.*160C>G	ENSP00000505803.1:n.*160C>G
ENST00000680582.1:n.1734C>G
ENST00000680613.1:c.*143C>G	ENSP00000506114.1:n.*143C>G
ENST00000680662.1:c.*686C>G	ENSP00000505080.1:n.*686C>G
ENST00000680691.1:c.*435C>G	ENSP00000506487.1:n.*435C>G
ENST00000680694.1:c.*360C>G	ENSP00000505658.1:n.*360C>G
ENST00000680743.1:c.*439C>G	ENSP00000505073.1:n.*439C>G
ENST00000680749.1:c.*57C>G	ENSP00000505122.1:n.*57C>G
ENST00000680798.1:c.*247C>G	ENSP00000505670.1:n.*247C>G
ENST00000680805.1:c.709-969C>G	ENSP00000505447.1:n.709-969C>G
ENST00000680844.1:c.*556C>G	ENSP00000506541.1:n.*556C>G
ENST00000680948.1:c.*639C>G	ENSP00000505441.1:n.*639C>G
ENST00000680964.1:c.772C>G	ENSP00000505961.1:p.Pro258Ala
ENST00000681037.1:c.*2256C>G	ENSP00000506025.1:n.*2256C>G
ENST00000681063.1:c.600-969C>G	ENSP00000506616.1:n.600-969C>G
ENST00000681209.1:c.*427C>G	ENSP00000505877.1:n.*427C>G
ENST00000681278.1:n.1129C>G
ENST00000681289.1:n.4767C>G
ENST00000681361.1:c.*439C>G	ENSP00000506679.1:n.*439C>G
ENST00000681430.1:c.772C>G	ENSP00000506301.1:p.Pro258Ala
ENST00000681446.1:c.*354C>G	ENSP00000506244.1:n.*354C>G
ENST00000681450.1:c.*443C>G	ENSP00000505660.1:n.*443C>G
ENST00000681548.1:c.*358C>G	ENSP00000505275.1:n.*358C>G
ENST00000681616.1:c.*431C>G	ENSP00000505111.1:n.*431C>G
ENST00000681621.1:c.*356C>G	ENSP00000505770.1:n.*356C>G
ENST00000681680.1:n.2867C>G
ENST00000681720.1:c.*227C>G	ENSP00000505438.1:n.*227C>G
ENST00000681730.1:n.994C>G
ENST00000681790.1:c.514C>G	ENSP00000505130.1:p.Pro172Ala
ENST00000681837.1:n.1388C>G
ENST00000681913.1:n.2896C>G
ENST00000681916.1:c.*540C>G	ENSP00000506477.1:n.*540C>G
ENST00000681930.1:n.2896C>G
ENST00000370834.9:c.871C>G	ENSP00000359871.5:p.Pro291Ala
ENST00000370841.8:c.772C>G	ENSP00000359878.4:p.Pro258Ala
ENST00000420607.6:c.784C>G	ENSP00000409612.2:p.Pro262Ala
ENST00000525808.5:c.*358C>G	ENSP00000434823.1:n.*358C>G
ENST00000526129.5:c.*556C>G	ENSP00000434092.1:n.*556C>G
ENST00000526196.5:c.*540C>G	ENSP00000431953.1:n.*540C>G
ENST00000526930.1:n.545C>G
ENST00000529059.5:n.681C>G
ENST00000530953.6:c.*269C>G	ENSP00000431372.1:n.*269C>G
ENST00000532207.5:n.502C>G
ENST00000532509.5:c.*536C>G	ENSP00000432522.1:n.*536C>G
ENST00000534334.5:c.*356C>G	ENSP00000435584.1:n.*356C>G
ENST00000541113.5:c.664C>G	ENSP00000442324.1:p.Pro222Ala
NM_000016.5:c.772C>G	NP_000007.1:p.Pro258Ala
NM_001127328.2:c.784C>G	NP_001120800.1:p.Pro262Ala
NM_001286042.1:c.664C>G	NP_001272971.1:p.Pro222Ala
NM_001286043.1:c.871C>G	NP_001272972.1:p.Pro291Ala
NM_001286044.1:c.205C>G	NP_001272973.1:p.Pro69Ala
NM_000016.6:c.772C>G MANE Select	NP_000007.1:p.Pro258Ala
NM_001127328.3:c.784C>G	NP_001120800.1:p.Pro262Ala
NM_001286042.2:c.664C>G	NP_001272971.1:p.Pro222Ala
NM_001286043.2:c.871C>G	NP_001272972.1:p.Pro291Ala
NM_001286044.2:c.205C>G	NP_001272973.1:p.Pro69Ala