Canonical Allele Identifier: CA418544804

Gene: ACADM

Linked Data

• gnomAD v4: 1-75749451-T-G
• MyVariant Identifiers: chr1:g.76215136T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749451T>G , CM000663.2:g.75749451T>G	GRCh38
NC_000001.10:g.76215136T>G , CM000663.1:g.76215136T>G	GRCh37
NC_000001.9:g.75987724T>G	NCBI36
NG_007045.2:g.30094T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.741T>G MANE Select	ENSP00000359878.5:p.Thr247=
ENST00000473018.3:n.2865T>G
ENST00000532207.6:n.1630T>G
ENST00000541113.6:c.741T>G	ENSP00000442324.2:p.Thr247=
ENST00000679509.1:n.1703T>G
ENST00000679530.1:c.*509T>G	ENSP00000506454.1:n.*509T>G
ENST00000679615.1:n.2756T>G
ENST00000679687.1:c.303T>G	ENSP00000506598.1:p.Thr101=
ENST00000679704.1:c.*507T>G	ENSP00000505117.1:n.*507T>G
ENST00000679709.1:c.*704T>G	ENSP00000506623.1:n.*704T>G
ENST00000679976.1:c.*325T>G	ENSP00000505565.1:n.*325T>G
ENST00000680166.1:n.4030T>G
ENST00000680517.1:c.*129T>G	ENSP00000505803.1:n.*129T>G
ENST00000680582.1:n.1703T>G
ENST00000680613.1:c.*112T>G	ENSP00000506114.1:n.*112T>G
ENST00000680662.1:c.*655T>G	ENSP00000505080.1:n.*655T>G
ENST00000680691.1:c.*404T>G	ENSP00000506487.1:n.*404T>G
ENST00000680694.1:c.*329T>G	ENSP00000505658.1:n.*329T>G
ENST00000680743.1:c.*408T>G	ENSP00000505073.1:n.*408T>G
ENST00000680749.1:c.*26T>G	ENSP00000505122.1:n.*26T>G
ENST00000680798.1:c.*216T>G	ENSP00000505670.1:n.*216T>G
ENST00000680805.1:c.709-1000T>G	ENSP00000505447.1:n.709-1000T>G
ENST00000680844.1:c.*525T>G	ENSP00000506541.1:n.*525T>G
ENST00000680948.1:c.*608T>G	ENSP00000505441.1:n.*608T>G
ENST00000680964.1:c.741T>G	ENSP00000505961.1:p.Thr247=
ENST00000681037.1:c.*2225T>G	ENSP00000506025.1:n.*2225T>G
ENST00000681063.1:c.600-1000T>G	ENSP00000506616.1:n.600-1000T>G
ENST00000681209.1:c.*396T>G	ENSP00000505877.1:n.*396T>G
ENST00000681278.1:n.1098T>G
ENST00000681289.1:n.4736T>G
ENST00000681361.1:c.*408T>G	ENSP00000506679.1:n.*408T>G
ENST00000681430.1:c.741T>G	ENSP00000506301.1:p.Thr247=
ENST00000681446.1:c.*323T>G	ENSP00000506244.1:n.*323T>G
ENST00000681450.1:c.*412T>G	ENSP00000505660.1:n.*412T>G
ENST00000681548.1:c.*327T>G	ENSP00000505275.1:n.*327T>G
ENST00000681616.1:c.*400T>G	ENSP00000505111.1:n.*400T>G
ENST00000681621.1:c.*325T>G	ENSP00000505770.1:n.*325T>G
ENST00000681680.1:n.2836T>G
ENST00000681720.1:c.*196T>G	ENSP00000505438.1:n.*196T>G
ENST00000681730.1:n.963T>G
ENST00000681790.1:c.483T>G	ENSP00000505130.1:p.Thr161=
ENST00000681837.1:n.1357T>G
ENST00000681913.1:n.2865T>G
ENST00000681916.1:c.*509T>G	ENSP00000506477.1:n.*509T>G
ENST00000681930.1:n.2865T>G
ENST00000370834.9:c.840T>G	ENSP00000359871.5:p.Thr280=
ENST00000370841.8:c.741T>G	ENSP00000359878.4:p.Thr247=
ENST00000420607.6:c.753T>G	ENSP00000409612.2:p.Thr251=
ENST00000525808.5:c.*327T>G	ENSP00000434823.1:n.*327T>G
ENST00000526129.5:c.*525T>G	ENSP00000434092.1:n.*525T>G
ENST00000526196.5:c.*509T>G	ENSP00000431953.1:n.*509T>G
ENST00000526930.1:n.514T>G
ENST00000529059.5:n.650T>G
ENST00000530953.6:c.*238T>G	ENSP00000431372.1:n.*238T>G
ENST00000532207.5:n.471T>G
ENST00000532509.5:c.*505T>G	ENSP00000432522.1:n.*505T>G
ENST00000534334.5:c.*325T>G	ENSP00000435584.1:n.*325T>G
ENST00000541113.5:c.633T>G	ENSP00000442324.1:p.Thr211=
NM_000016.5:c.741T>G	NP_000007.1:p.Thr247=
NM_001127328.2:c.753T>G	NP_001120800.1:p.Thr251=
NM_001286042.1:c.633T>G	NP_001272971.1:p.Thr211=
NM_001286043.1:c.840T>G	NP_001272972.1:p.Thr280=
NM_001286044.1:c.174T>G	NP_001272973.1:p.Thr58=
NM_000016.6:c.741T>G MANE Select	NP_000007.1:p.Thr247=
NM_001127328.3:c.753T>G	NP_001120800.1:p.Thr251=
NM_001286042.2:c.633T>G	NP_001272971.1:p.Thr211=
NM_001286043.2:c.840T>G	NP_001272972.1:p.Thr280=
NM_001286044.2:c.174T>G	NP_001272973.1:p.Thr58=