Canonical Allele Identifier: CA340818232

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226993G>T (hg19) ; chr1:g.75761308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761308G>T , CM000663.2:g.75761308G>T	GRCh38
NC_000001.10:g.76226993G>T , CM000663.1:g.76226993G>T	GRCh37
NC_000001.9:g.75999581G>T	NCBI36
NG_007045.2:g.41951G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1132G>T MANE Select	ENSP00000359878.5:p.Gly378Cys
ENST00000473018.3:n.3256G>T
ENST00000532207.6:n.2143G>T
ENST00000541113.6:c.1036G>T	ENSP00000442324.2:p.Gly346Cys
ENST00000679509.1:n.2094G>T
ENST00000679530.1:c.*900G>T	ENSP00000506454.1:n.*900G>T
ENST00000679615.1:n.3147G>T
ENST00000679687.1:c.694G>T	ENSP00000506598.1:p.Gly232Cys
ENST00000679704.1:c.*898G>T	ENSP00000505117.1:n.*898G>T
ENST00000679709.1:c.*1095G>T	ENSP00000506623.1:n.*1095G>T
ENST00000679976.1:c.*716G>T	ENSP00000505565.1:n.*716G>T
ENST00000680166.1:n.4421G>T
ENST00000680315.1:n.1015G>T
ENST00000680517.1:c.*520G>T	ENSP00000505803.1:n.*520G>T
ENST00000680582.1:n.2094G>T
ENST00000680613.1:c.*625G>T	ENSP00000506114.1:n.*625G>T
ENST00000680662.1:c.*1046G>T	ENSP00000505080.1:n.*1046G>T
ENST00000680691.1:c.*795G>T	ENSP00000506487.1:n.*795G>T
ENST00000680694.1:c.*720G>T	ENSP00000505658.1:n.*720G>T
ENST00000680743.1:c.*921G>T	ENSP00000505073.1:n.*921G>T
ENST00000680749.1:c.*417G>T	ENSP00000505122.1:n.*417G>T
ENST00000680798.1:c.*607G>T	ENSP00000505670.1:n.*607G>T
ENST00000680805.1:c.991G>T	ENSP00000505447.1:p.Gly331Cys
ENST00000680844.1:c.*916G>T	ENSP00000506541.1:n.*916G>T
ENST00000680948.1:c.*999G>T	ENSP00000505441.1:n.*999G>T
ENST00000680964.1:c.*225G>T	ENSP00000505961.1:n.*225G>T
ENST00000681037.1:c.*2616G>T	ENSP00000506025.1:n.*2616G>T
ENST00000681063.1:c.*401G>T	ENSP00000506616.1:n.*401G>T
ENST00000681209.1:c.*787G>T	ENSP00000505877.1:n.*787G>T
ENST00000681278.1:n.1834G>T
ENST00000681289.1:n.5127G>T
ENST00000681361.1:c.*799G>T	ENSP00000506679.1:n.*799G>T
ENST00000681430.1:c.*225G>T	ENSP00000506301.1:n.*225G>T
ENST00000681446.1:c.*836G>T	ENSP00000506244.1:n.*836G>T
ENST00000681450.1:c.*803G>T	ENSP00000505660.1:n.*803G>T
ENST00000681548.1:c.*718G>T	ENSP00000505275.1:n.*718G>T
ENST00000681616.1:c.*791G>T	ENSP00000505111.1:n.*791G>T
ENST00000681621.1:c.*716G>T	ENSP00000505770.1:n.*716G>T
ENST00000681680.1:n.3227G>T
ENST00000681720.1:c.*587G>T	ENSP00000505438.1:n.*587G>T
ENST00000681730.1:n.1354G>T
ENST00000681790.1:c.874G>T	ENSP00000505130.1:p.Gly292Cys
ENST00000681837.1:n.1748G>T
ENST00000681913.1:n.3378G>T
ENST00000681916.1:c.*900G>T	ENSP00000506477.1:n.*900G>T
ENST00000681930.1:n.3256G>T
ENST00000370834.9:c.1231G>T	ENSP00000359871.5:p.Gly411Cys
ENST00000370841.8:c.1132G>T	ENSP00000359878.4:p.Gly378Cys
ENST00000420607.6:c.1144G>T	ENSP00000409612.2:p.Gly382Cys
ENST00000481374.1:n.405G>T
ENST00000525808.5:c.*718G>T	ENSP00000434823.1:n.*718G>T
ENST00000526129.5:c.*916G>T	ENSP00000434092.1:n.*916G>T
ENST00000526196.5:c.*900G>T	ENSP00000431953.1:n.*900G>T
ENST00000528016.1:c.160-7869G>T	ENSP00000434284.1:n.160-7869G>T
ENST00000529059.5:n.1041G>T
ENST00000541113.5:c.1024G>T	ENSP00000442324.1:p.Gly342Cys
NM_000016.5:c.1132G>T	NP_000007.1:p.Gly378Cys
NM_001127328.2:c.1144G>T	NP_001120800.1:p.Gly382Cys
NM_001286042.1:c.1024G>T	NP_001272971.1:p.Gly342Cys
NM_001286043.1:c.1231G>T	NP_001272972.1:p.Gly411Cys
NM_001286044.1:c.565G>T	NP_001272973.1:p.Gly189Cys
NM_000016.6:c.1132G>T MANE Select	NP_000007.1:p.Gly378Cys
NM_001127328.3:c.1144G>T	NP_001120800.1:p.Gly382Cys
NM_001286042.2:c.1024G>T	NP_001272971.1:p.Gly342Cys
NM_001286043.2:c.1231G>T	NP_001272972.1:p.Gly411Cys
NM_001286044.2:c.565G>T	NP_001272973.1:p.Gly189Cys