Canonical Allele Identifier: CA340817832

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226807C>G (hg19) ; chr1:g.75761122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761122C>G , CM000663.2:g.75761122C>G	GRCh38
NC_000001.10:g.76226807C>G , CM000663.1:g.76226807C>G	GRCh37
NC_000001.9:g.75999395C>G	NCBI36
NG_007045.2:g.41765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.946C>G MANE Select	ENSP00000359878.5:p.His316Asp
ENST00000473018.3:n.3070C>G
ENST00000532207.6:n.1957C>G
ENST00000541113.6:c.850C>G	ENSP00000442324.2:p.His284Asp
ENST00000679509.1:n.1908C>G
ENST00000679530.1:c.*714C>G	ENSP00000506454.1:n.*714C>G
ENST00000679615.1:n.2961C>G
ENST00000679687.1:c.508C>G	ENSP00000506598.1:p.His170Asp
ENST00000679704.1:c.*712C>G	ENSP00000505117.1:n.*712C>G
ENST00000679709.1:c.*909C>G	ENSP00000506623.1:n.*909C>G
ENST00000679976.1:c.*530C>G	ENSP00000505565.1:n.*530C>G
ENST00000680166.1:n.4235C>G
ENST00000680315.1:n.829C>G
ENST00000680517.1:c.*334C>G	ENSP00000505803.1:n.*334C>G
ENST00000680582.1:n.1908C>G
ENST00000680613.1:c.*439C>G	ENSP00000506114.1:n.*439C>G
ENST00000680662.1:c.*860C>G	ENSP00000505080.1:n.*860C>G
ENST00000680691.1:c.*609C>G	ENSP00000506487.1:n.*609C>G
ENST00000680694.1:c.*534C>G	ENSP00000505658.1:n.*534C>G
ENST00000680743.1:c.*735C>G	ENSP00000505073.1:n.*735C>G
ENST00000680749.1:c.*231C>G	ENSP00000505122.1:n.*231C>G
ENST00000680798.1:c.*421C>G	ENSP00000505670.1:n.*421C>G
ENST00000680805.1:c.805C>G	ENSP00000505447.1:p.His269Asp
ENST00000680844.1:c.*730C>G	ENSP00000506541.1:n.*730C>G
ENST00000680948.1:c.*813C>G	ENSP00000505441.1:n.*813C>G
ENST00000680964.1:c.*39C>G	ENSP00000505961.1:n.*39C>G
ENST00000681037.1:c.*2430C>G	ENSP00000506025.1:n.*2430C>G
ENST00000681063.1:c.*215C>G	ENSP00000506616.1:n.*215C>G
ENST00000681209.1:c.*601C>G	ENSP00000505877.1:n.*601C>G
ENST00000681278.1:n.1648C>G
ENST00000681289.1:n.4941C>G
ENST00000681361.1:c.*613C>G	ENSP00000506679.1:n.*613C>G
ENST00000681430.1:c.*39C>G	ENSP00000506301.1:n.*39C>G
ENST00000681446.1:c.*650C>G	ENSP00000506244.1:n.*650C>G
ENST00000681450.1:c.*617C>G	ENSP00000505660.1:n.*617C>G
ENST00000681548.1:c.*532C>G	ENSP00000505275.1:n.*532C>G
ENST00000681616.1:c.*605C>G	ENSP00000505111.1:n.*605C>G
ENST00000681621.1:c.*530C>G	ENSP00000505770.1:n.*530C>G
ENST00000681680.1:n.3041C>G
ENST00000681720.1:c.*401C>G	ENSP00000505438.1:n.*401C>G
ENST00000681730.1:n.1168C>G
ENST00000681790.1:c.688C>G	ENSP00000505130.1:p.His230Asp
ENST00000681837.1:n.1562C>G
ENST00000681913.1:n.3192C>G
ENST00000681916.1:c.*714C>G	ENSP00000506477.1:n.*714C>G
ENST00000681930.1:n.3070C>G
ENST00000370834.9:c.1045C>G	ENSP00000359871.5:p.His349Asp
ENST00000370841.8:c.946C>G	ENSP00000359878.4:p.His316Asp
ENST00000420607.6:c.958C>G	ENSP00000409612.2:p.His320Asp
ENST00000481374.1:n.219C>G
ENST00000525808.5:c.*532C>G	ENSP00000434823.1:n.*532C>G
ENST00000526129.5:c.*730C>G	ENSP00000434092.1:n.*730C>G
ENST00000526196.5:c.*714C>G	ENSP00000431953.1:n.*714C>G
ENST00000528016.1:c.160-8055C>G	ENSP00000434284.1:n.160-8055C>G
ENST00000529059.5:n.855C>G
ENST00000532207.5:n.676C>G
ENST00000534334.5:c.*687C>G	ENSP00000435584.1:n.*687C>G
ENST00000541113.5:c.838C>G	ENSP00000442324.1:p.His280Asp
NM_000016.5:c.946C>G	NP_000007.1:p.His316Asp
NM_001127328.2:c.958C>G	NP_001120800.1:p.His320Asp
NM_001286042.1:c.838C>G	NP_001272971.1:p.His280Asp
NM_001286043.1:c.1045C>G	NP_001272972.1:p.His349Asp
NM_001286044.1:c.379C>G	NP_001272973.1:p.His127Asp
NM_000016.6:c.946C>G MANE Select	NP_000007.1:p.His316Asp
NM_001127328.3:c.958C>G	NP_001120800.1:p.His320Asp
NM_001286042.2:c.838C>G	NP_001272971.1:p.His280Asp
NM_001286043.2:c.1045C>G	NP_001272972.1:p.His349Asp
NM_001286044.2:c.379C>G	NP_001272973.1:p.His127Asp