Canonical Allele Identifier: CA340816539

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215119C>T (hg19) ; chr1:g.75749434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749434C>T , CM000663.2:g.75749434C>T	GRCh38
NC_000001.10:g.76215119C>T , CM000663.1:g.76215119C>T	GRCh37
NC_000001.9:g.75987707C>T	NCBI36
NG_007045.2:g.30077C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.724C>T MANE Select	ENSP00000359878.5:p.Gln242Ter
ENST00000473018.3:n.2848C>T
ENST00000532207.6:n.1613C>T
ENST00000541113.6:c.724C>T	ENSP00000442324.2:p.Gln242Ter
ENST00000679509.1:n.1686C>T
ENST00000679530.1:c.*492C>T	ENSP00000506454.1:n.*492C>T
ENST00000679615.1:n.2739C>T
ENST00000679687.1:c.286C>T	ENSP00000506598.1:p.Gln96Ter
ENST00000679704.1:c.*490C>T	ENSP00000505117.1:n.*490C>T
ENST00000679709.1:c.*687C>T	ENSP00000506623.1:n.*687C>T
ENST00000679976.1:c.*308C>T	ENSP00000505565.1:n.*308C>T
ENST00000680166.1:n.4013C>T
ENST00000680517.1:c.*112C>T	ENSP00000505803.1:n.*112C>T
ENST00000680582.1:n.1686C>T
ENST00000680613.1:c.*95C>T	ENSP00000506114.1:n.*95C>T
ENST00000680662.1:c.*638C>T	ENSP00000505080.1:n.*638C>T
ENST00000680691.1:c.*387C>T	ENSP00000506487.1:n.*387C>T
ENST00000680694.1:c.*312C>T	ENSP00000505658.1:n.*312C>T
ENST00000680743.1:c.*391C>T	ENSP00000505073.1:n.*391C>T
ENST00000680749.1:c.*9C>T	ENSP00000505122.1:n.*9C>T
ENST00000680798.1:c.*199C>T	ENSP00000505670.1:n.*199C>T
ENST00000680805.1:c.709-1017C>T	ENSP00000505447.1:n.709-1017C>T
ENST00000680844.1:c.*508C>T	ENSP00000506541.1:n.*508C>T
ENST00000680948.1:c.*591C>T	ENSP00000505441.1:n.*591C>T
ENST00000680964.1:c.724C>T	ENSP00000505961.1:p.Gln242Ter
ENST00000681037.1:c.*2208C>T	ENSP00000506025.1:n.*2208C>T
ENST00000681063.1:c.600-1017C>T	ENSP00000506616.1:n.600-1017C>T
ENST00000681209.1:c.*379C>T	ENSP00000505877.1:n.*379C>T
ENST00000681278.1:n.1081C>T
ENST00000681289.1:n.4719C>T
ENST00000681361.1:c.*391C>T	ENSP00000506679.1:n.*391C>T
ENST00000681430.1:c.724C>T	ENSP00000506301.1:p.Gln242Ter
ENST00000681446.1:c.*306C>T	ENSP00000506244.1:n.*306C>T
ENST00000681450.1:c.*395C>T	ENSP00000505660.1:n.*395C>T
ENST00000681548.1:c.*310C>T	ENSP00000505275.1:n.*310C>T
ENST00000681616.1:c.*383C>T	ENSP00000505111.1:n.*383C>T
ENST00000681621.1:c.*308C>T	ENSP00000505770.1:n.*308C>T
ENST00000681680.1:n.2819C>T
ENST00000681720.1:c.*179C>T	ENSP00000505438.1:n.*179C>T
ENST00000681730.1:n.946C>T
ENST00000681790.1:c.466C>T	ENSP00000505130.1:p.Gln156Ter
ENST00000681837.1:n.1340C>T
ENST00000681913.1:n.2848C>T
ENST00000681916.1:c.*492C>T	ENSP00000506477.1:n.*492C>T
ENST00000681930.1:n.2848C>T
ENST00000370834.9:c.823C>T	ENSP00000359871.5:p.Gln275Ter
ENST00000370841.8:c.724C>T	ENSP00000359878.4:p.Gln242Ter
ENST00000420607.6:c.736C>T	ENSP00000409612.2:p.Gln246Ter
ENST00000525808.5:c.*310C>T	ENSP00000434823.1:n.*310C>T
ENST00000526129.5:c.*508C>T	ENSP00000434092.1:n.*508C>T
ENST00000526196.5:c.*492C>T	ENSP00000431953.1:n.*492C>T
ENST00000526930.1:n.497C>T
ENST00000529059.5:n.633C>T
ENST00000530953.6:c.*221C>T	ENSP00000431372.1:n.*221C>T
ENST00000532207.5:n.454C>T
ENST00000532509.5:c.*488C>T	ENSP00000432522.1:n.*488C>T
ENST00000534334.5:c.*308C>T	ENSP00000435584.1:n.*308C>T
ENST00000541113.5:c.616C>T	ENSP00000442324.1:p.Gln206Ter
NM_000016.5:c.724C>T	NP_000007.1:p.Gln242Ter
NM_001127328.2:c.736C>T	NP_001120800.1:p.Gln246Ter
NM_001286042.1:c.616C>T	NP_001272971.1:p.Gln206Ter
NM_001286043.1:c.823C>T	NP_001272972.1:p.Gln275Ter
NM_001286044.1:c.157C>T	NP_001272973.1:p.Gln53Ter
NM_000016.6:c.724C>T MANE Select	NP_000007.1:p.Gln242Ter
NM_001127328.3:c.736C>T	NP_001120800.1:p.Gln246Ter
NM_001286042.2:c.616C>T	NP_001272971.1:p.Gln206Ter
NM_001286043.2:c.823C>T	NP_001272972.1:p.Gln275Ter
NM_001286044.2:c.157C>T	NP_001272973.1:p.Gln53Ter