Canonical Allele Identifier: CA340818262

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227006A>C (hg19) ; chr1:g.75761321A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761321A>C , CM000663.2:g.75761321A>C	GRCh38
NC_000001.10:g.76227006A>C , CM000663.1:g.76227006A>C	GRCh37
NC_000001.9:g.75999594A>C	NCBI36
NG_007045.2:g.41964A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1145A>C MANE Select	ENSP00000359878.5:p.Asn382Thr
ENST00000473018.3:n.3269A>C
ENST00000532207.6:n.2156A>C
ENST00000541113.6:c.1049A>C	ENSP00000442324.2:p.Asn350Thr
ENST00000679509.1:n.2107A>C
ENST00000679530.1:c.*913A>C	ENSP00000506454.1:n.*913A>C
ENST00000679615.1:n.3160A>C
ENST00000679687.1:c.707A>C	ENSP00000506598.1:p.Asn236Thr
ENST00000679704.1:c.*911A>C	ENSP00000505117.1:n.*911A>C
ENST00000679709.1:c.*1108A>C	ENSP00000506623.1:n.*1108A>C
ENST00000679976.1:c.*729A>C	ENSP00000505565.1:n.*729A>C
ENST00000680166.1:n.4434A>C
ENST00000680315.1:n.1028A>C
ENST00000680517.1:c.*533A>C	ENSP00000505803.1:n.*533A>C
ENST00000680582.1:n.2107A>C
ENST00000680613.1:c.*638A>C	ENSP00000506114.1:n.*638A>C
ENST00000680662.1:c.*1059A>C	ENSP00000505080.1:n.*1059A>C
ENST00000680691.1:c.*808A>C	ENSP00000506487.1:n.*808A>C
ENST00000680694.1:c.*733A>C	ENSP00000505658.1:n.*733A>C
ENST00000680743.1:c.*934A>C	ENSP00000505073.1:n.*934A>C
ENST00000680749.1:c.*430A>C	ENSP00000505122.1:n.*430A>C
ENST00000680798.1:c.*620A>C	ENSP00000505670.1:n.*620A>C
ENST00000680805.1:c.1004A>C	ENSP00000505447.1:p.Asn335Thr
ENST00000680844.1:c.*929A>C	ENSP00000506541.1:n.*929A>C
ENST00000680948.1:c.*1012A>C	ENSP00000505441.1:n.*1012A>C
ENST00000680964.1:c.*238A>C	ENSP00000505961.1:n.*238A>C
ENST00000681037.1:c.*2629A>C	ENSP00000506025.1:n.*2629A>C
ENST00000681063.1:c.*414A>C	ENSP00000506616.1:n.*414A>C
ENST00000681209.1:c.*800A>C	ENSP00000505877.1:n.*800A>C
ENST00000681278.1:n.1847A>C
ENST00000681289.1:n.5140A>C
ENST00000681361.1:c.*812A>C	ENSP00000506679.1:n.*812A>C
ENST00000681430.1:c.*238A>C	ENSP00000506301.1:n.*238A>C
ENST00000681446.1:c.*849A>C	ENSP00000506244.1:n.*849A>C
ENST00000681450.1:c.*816A>C	ENSP00000505660.1:n.*816A>C
ENST00000681548.1:c.*731A>C	ENSP00000505275.1:n.*731A>C
ENST00000681616.1:c.*804A>C	ENSP00000505111.1:n.*804A>C
ENST00000681621.1:c.*729A>C	ENSP00000505770.1:n.*729A>C
ENST00000681680.1:n.3240A>C
ENST00000681720.1:c.*600A>C	ENSP00000505438.1:n.*600A>C
ENST00000681730.1:n.1367A>C
ENST00000681790.1:c.887A>C	ENSP00000505130.1:p.Asn296Thr
ENST00000681837.1:n.1761A>C
ENST00000681913.1:n.3391A>C
ENST00000681916.1:c.*913A>C	ENSP00000506477.1:n.*913A>C
ENST00000681930.1:n.3269A>C
ENST00000370834.9:c.1244A>C	ENSP00000359871.5:p.Asn415Thr
ENST00000370841.8:c.1145A>C	ENSP00000359878.4:p.Asn382Thr
ENST00000420607.6:c.1157A>C	ENSP00000409612.2:p.Asn386Thr
ENST00000481374.1:n.418A>C
ENST00000525808.5:c.*731A>C	ENSP00000434823.1:n.*731A>C
ENST00000526129.5:c.*929A>C	ENSP00000434092.1:n.*929A>C
ENST00000526196.5:c.*913A>C	ENSP00000431953.1:n.*913A>C
ENST00000528016.1:c.160-7856A>C	ENSP00000434284.1:n.160-7856A>C
ENST00000529059.5:n.1054A>C
ENST00000541113.5:c.1037A>C	ENSP00000442324.1:p.Asn346Thr
NM_000016.5:c.1145A>C	NP_000007.1:p.Asn382Thr
NM_001127328.2:c.1157A>C	NP_001120800.1:p.Asn386Thr
NM_001286042.1:c.1037A>C	NP_001272971.1:p.Asn346Thr
NM_001286043.1:c.1244A>C	NP_001272972.1:p.Asn415Thr
NM_001286044.1:c.578A>C	NP_001272973.1:p.Asn193Thr
NM_000016.6:c.1145A>C MANE Select	NP_000007.1:p.Asn382Thr
NM_001127328.3:c.1157A>C	NP_001120800.1:p.Asn386Thr
NM_001286042.2:c.1037A>C	NP_001272971.1:p.Asn346Thr
NM_001286043.2:c.1244A>C	NP_001272972.1:p.Asn415Thr
NM_001286044.2:c.578A>C	NP_001272973.1:p.Asn193Thr