Canonical Allele Identifier: CA340818043

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226900G>T (hg19) ; chr1:g.75761215G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761215G>T , CM000663.2:g.75761215G>T	GRCh38
NC_000001.10:g.76226900G>T , CM000663.1:g.76226900G>T	GRCh37
NC_000001.9:g.75999488G>T	NCBI36
NG_007045.2:g.41858G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1039G>T MANE Select	ENSP00000359878.5:p.Gly347Cys
ENST00000473018.3:n.3163G>T
ENST00000532207.6:n.2050G>T
ENST00000541113.6:c.943G>T	ENSP00000442324.2:p.Gly315Cys
ENST00000679509.1:n.2001G>T
ENST00000679530.1:c.*807G>T	ENSP00000506454.1:n.*807G>T
ENST00000679615.1:n.3054G>T
ENST00000679687.1:c.601G>T	ENSP00000506598.1:p.Gly201Cys
ENST00000679704.1:c.*805G>T	ENSP00000505117.1:n.*805G>T
ENST00000679709.1:c.*1002G>T	ENSP00000506623.1:n.*1002G>T
ENST00000679976.1:c.*623G>T	ENSP00000505565.1:n.*623G>T
ENST00000680166.1:n.4328G>T
ENST00000680315.1:n.922G>T
ENST00000680517.1:c.*427G>T	ENSP00000505803.1:n.*427G>T
ENST00000680582.1:n.2001G>T
ENST00000680613.1:c.*532G>T	ENSP00000506114.1:n.*532G>T
ENST00000680662.1:c.*953G>T	ENSP00000505080.1:n.*953G>T
ENST00000680691.1:c.*702G>T	ENSP00000506487.1:n.*702G>T
ENST00000680694.1:c.*627G>T	ENSP00000505658.1:n.*627G>T
ENST00000680743.1:c.*828G>T	ENSP00000505073.1:n.*828G>T
ENST00000680749.1:c.*324G>T	ENSP00000505122.1:n.*324G>T
ENST00000680798.1:c.*514G>T	ENSP00000505670.1:n.*514G>T
ENST00000680805.1:c.898G>T	ENSP00000505447.1:p.Gly300Cys
ENST00000680844.1:c.*823G>T	ENSP00000506541.1:n.*823G>T
ENST00000680948.1:c.*906G>T	ENSP00000505441.1:n.*906G>T
ENST00000680964.1:c.*132G>T	ENSP00000505961.1:n.*132G>T
ENST00000681037.1:c.*2523G>T	ENSP00000506025.1:n.*2523G>T
ENST00000681063.1:c.*308G>T	ENSP00000506616.1:n.*308G>T
ENST00000681209.1:c.*694G>T	ENSP00000505877.1:n.*694G>T
ENST00000681278.1:n.1741G>T
ENST00000681289.1:n.5034G>T
ENST00000681361.1:c.*706G>T	ENSP00000506679.1:n.*706G>T
ENST00000681430.1:c.*132G>T	ENSP00000506301.1:n.*132G>T
ENST00000681446.1:c.*743G>T	ENSP00000506244.1:n.*743G>T
ENST00000681450.1:c.*710G>T	ENSP00000505660.1:n.*710G>T
ENST00000681548.1:c.*625G>T	ENSP00000505275.1:n.*625G>T
ENST00000681616.1:c.*698G>T	ENSP00000505111.1:n.*698G>T
ENST00000681621.1:c.*623G>T	ENSP00000505770.1:n.*623G>T
ENST00000681680.1:n.3134G>T
ENST00000681720.1:c.*494G>T	ENSP00000505438.1:n.*494G>T
ENST00000681730.1:n.1261G>T
ENST00000681790.1:c.781G>T	ENSP00000505130.1:p.Gly261Cys
ENST00000681837.1:n.1655G>T
ENST00000681913.1:n.3285G>T
ENST00000681916.1:c.*807G>T	ENSP00000506477.1:n.*807G>T
ENST00000681930.1:n.3163G>T
ENST00000370834.9:c.1138G>T	ENSP00000359871.5:p.Gly380Cys
ENST00000370841.8:c.1039G>T	ENSP00000359878.4:p.Gly347Cys
ENST00000420607.6:c.1051G>T	ENSP00000409612.2:p.Gly351Cys
ENST00000481374.1:n.312G>T
ENST00000525808.5:c.*625G>T	ENSP00000434823.1:n.*625G>T
ENST00000526129.5:c.*823G>T	ENSP00000434092.1:n.*823G>T
ENST00000526196.5:c.*807G>T	ENSP00000431953.1:n.*807G>T
ENST00000528016.1:c.160-7962G>T	ENSP00000434284.1:n.160-7962G>T
ENST00000529059.5:n.948G>T
ENST00000534334.5:c.*780G>T	ENSP00000435584.1:n.*780G>T
ENST00000541113.5:c.931G>T	ENSP00000442324.1:p.Gly311Cys
NM_000016.5:c.1039G>T	NP_000007.1:p.Gly347Cys
NM_001127328.2:c.1051G>T	NP_001120800.1:p.Gly351Cys
NM_001286042.1:c.931G>T	NP_001272971.1:p.Gly311Cys
NM_001286043.1:c.1138G>T	NP_001272972.1:p.Gly380Cys
NM_001286044.1:c.472G>T	NP_001272973.1:p.Gly158Cys
NM_000016.6:c.1039G>T MANE Select	NP_000007.1:p.Gly347Cys
NM_001127328.3:c.1051G>T	NP_001120800.1:p.Gly351Cys
NM_001286042.2:c.931G>T	NP_001272971.1:p.Gly311Cys
NM_001286043.2:c.1138G>T	NP_001272972.1:p.Gly380Cys
NM_001286044.2:c.472G>T	NP_001272973.1:p.Gly158Cys