Canonical Allele Identifier: CA340817029

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216173T>G (hg19) ; chr1:g.75750488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750488T>G , CM000663.2:g.75750488T>G	GRCh38
NC_000001.10:g.76216173T>G , CM000663.1:g.76216173T>G	GRCh37
NC_000001.9:g.75988761T>G	NCBI36
NG_007045.2:g.31131T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.887T>G MANE Select	ENSP00000359878.5:p.Leu296Trp
ENST00000473018.3:n.3011T>G
ENST00000532207.6:n.1776T>G
ENST00000541113.6:c.849+929T>G	ENSP00000442324.2:n.849+929T>G
ENST00000679509.1:n.1849T>G
ENST00000679530.1:c.*655T>G	ENSP00000506454.1:n.*655T>G
ENST00000679615.1:n.2902T>G
ENST00000679687.1:c.449T>G	ENSP00000506598.1:p.Leu150Trp
ENST00000679704.1:c.*653T>G	ENSP00000505117.1:n.*653T>G
ENST00000679709.1:c.*850T>G	ENSP00000506623.1:n.*850T>G
ENST00000679976.1:c.*471T>G	ENSP00000505565.1:n.*471T>G
ENST00000680166.1:n.4176T>G
ENST00000680315.1:n.770T>G
ENST00000680517.1:c.*275T>G	ENSP00000505803.1:n.*275T>G
ENST00000680582.1:n.1849T>G
ENST00000680613.1:c.*258T>G	ENSP00000506114.1:n.*258T>G
ENST00000680662.1:c.*801T>G	ENSP00000505080.1:n.*801T>G
ENST00000680691.1:c.*550T>G	ENSP00000506487.1:n.*550T>G
ENST00000680694.1:c.*475T>G	ENSP00000505658.1:n.*475T>G
ENST00000680743.1:c.*554T>G	ENSP00000505073.1:n.*554T>G
ENST00000680749.1:c.*172T>G	ENSP00000505122.1:n.*172T>G
ENST00000680798.1:c.*362T>G	ENSP00000505670.1:n.*362T>G
ENST00000680805.1:c.746T>G	ENSP00000505447.1:p.Leu249Trp
ENST00000680844.1:c.*671T>G	ENSP00000506541.1:n.*671T>G
ENST00000680948.1:c.*754T>G	ENSP00000505441.1:n.*754T>G
ENST00000680964.1:c.887T>G	ENSP00000505961.1:p.Leu296Trp
ENST00000681037.1:c.*2371T>G	ENSP00000506025.1:n.*2371T>G
ENST00000681063.1:c.*34T>G	ENSP00000506616.1:n.*34T>G
ENST00000681209.1:c.*542T>G	ENSP00000505877.1:n.*542T>G
ENST00000681278.1:n.1244T>G
ENST00000681289.1:n.4882T>G
ENST00000681361.1:c.*554T>G	ENSP00000506679.1:n.*554T>G
ENST00000681430.1:c.887T>G	ENSP00000506301.1:p.Leu296Trp
ENST00000681446.1:c.*469T>G	ENSP00000506244.1:n.*469T>G
ENST00000681450.1:c.*558T>G	ENSP00000505660.1:n.*558T>G
ENST00000681548.1:c.*473T>G	ENSP00000505275.1:n.*473T>G
ENST00000681616.1:c.*546T>G	ENSP00000505111.1:n.*546T>G
ENST00000681621.1:c.*471T>G	ENSP00000505770.1:n.*471T>G
ENST00000681680.1:n.2982T>G
ENST00000681720.1:c.*342T>G	ENSP00000505438.1:n.*342T>G
ENST00000681730.1:n.1109T>G
ENST00000681790.1:c.629T>G	ENSP00000505130.1:p.Leu210Trp
ENST00000681837.1:n.1503T>G
ENST00000681913.1:n.3011T>G
ENST00000681916.1:c.*655T>G	ENSP00000506477.1:n.*655T>G
ENST00000681930.1:n.3011T>G
ENST00000370834.9:c.986T>G	ENSP00000359871.5:p.Leu329Trp
ENST00000370841.8:c.887T>G	ENSP00000359878.4:p.Leu296Trp
ENST00000420607.6:c.899T>G	ENSP00000409612.2:p.Leu300Trp
ENST00000481374.1:n.38T>G
ENST00000525808.5:c.*473T>G	ENSP00000434823.1:n.*473T>G
ENST00000526129.5:c.*671T>G	ENSP00000434092.1:n.*671T>G
ENST00000526196.5:c.*655T>G	ENSP00000431953.1:n.*655T>G
ENST00000528016.1:c.101T>G	ENSP00000434284.1:p.Leu34Trp
ENST00000529059.5:n.796T>G
ENST00000532207.5:n.617T>G
ENST00000534334.5:c.*471T>G	ENSP00000435584.1:n.*471T>G
ENST00000541113.5:c.779T>G	ENSP00000442324.1:p.Leu260Trp
NM_000016.5:c.887T>G	NP_000007.1:p.Leu296Trp
NM_001127328.2:c.899T>G	NP_001120800.1:p.Leu300Trp
NM_001286042.1:c.779T>G	NP_001272971.1:p.Leu260Trp
NM_001286043.1:c.986T>G	NP_001272972.1:p.Leu329Trp
NM_001286044.1:c.320T>G	NP_001272973.1:p.Leu107Trp
NM_000016.6:c.887T>G MANE Select	NP_000007.1:p.Leu296Trp
NM_001127328.3:c.899T>G	NP_001120800.1:p.Leu300Trp
NM_001286042.2:c.779T>G	NP_001272971.1:p.Leu260Trp
NM_001286043.2:c.986T>G	NP_001272972.1:p.Leu329Trp
NM_001286044.2:c.320T>G	NP_001272973.1:p.Leu107Trp