Canonical Allele Identifier: CA340816515

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215110A>C (hg19) ; chr1:g.75749425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749425A>C , CM000663.2:g.75749425A>C	GRCh38
NC_000001.10:g.76215110A>C , CM000663.1:g.76215110A>C	GRCh37
NC_000001.9:g.75987698A>C	NCBI36
NG_007045.2:g.30068A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.715A>C MANE Select	ENSP00000359878.5:p.Asn239His
ENST00000473018.3:n.2839A>C
ENST00000532207.6:n.1604A>C
ENST00000541113.6:c.715A>C	ENSP00000442324.2:p.Asn239His
ENST00000679509.1:n.1677A>C
ENST00000679530.1:c.*483A>C	ENSP00000506454.1:n.*483A>C
ENST00000679615.1:n.2730A>C
ENST00000679687.1:c.277A>C	ENSP00000506598.1:p.Asn93His
ENST00000679704.1:c.*481A>C	ENSP00000505117.1:n.*481A>C
ENST00000679709.1:c.*678A>C	ENSP00000506623.1:n.*678A>C
ENST00000679976.1:c.*299A>C	ENSP00000505565.1:n.*299A>C
ENST00000680166.1:n.4004A>C
ENST00000680517.1:c.*103A>C	ENSP00000505803.1:n.*103A>C
ENST00000680582.1:n.1677A>C
ENST00000680613.1:c.*86A>C	ENSP00000506114.1:n.*86A>C
ENST00000680662.1:c.*629A>C	ENSP00000505080.1:n.*629A>C
ENST00000680691.1:c.*378A>C	ENSP00000506487.1:n.*378A>C
ENST00000680694.1:c.*303A>C	ENSP00000505658.1:n.*303A>C
ENST00000680743.1:c.*382A>C	ENSP00000505073.1:n.*382A>C
ENST00000680749.1:c.606A>C	ENSP00000505122.1:p.Ter202Tyr
ENST00000680798.1:c.*190A>C	ENSP00000505670.1:n.*190A>C
ENST00000680805.1:c.709-1026A>C	ENSP00000505447.1:n.709-1026A>C
ENST00000680844.1:c.*499A>C	ENSP00000506541.1:n.*499A>C
ENST00000680948.1:c.*582A>C	ENSP00000505441.1:n.*582A>C
ENST00000680964.1:c.715A>C	ENSP00000505961.1:p.Asn239His
ENST00000681037.1:c.*2199A>C	ENSP00000506025.1:n.*2199A>C
ENST00000681063.1:c.600-1026A>C	ENSP00000506616.1:n.600-1026A>C
ENST00000681209.1:c.*370A>C	ENSP00000505877.1:n.*370A>C
ENST00000681278.1:n.1072A>C
ENST00000681289.1:n.4710A>C
ENST00000681361.1:c.*382A>C	ENSP00000506679.1:n.*382A>C
ENST00000681430.1:c.715A>C	ENSP00000506301.1:p.Asn239His
ENST00000681446.1:c.*297A>C	ENSP00000506244.1:n.*297A>C
ENST00000681450.1:c.*386A>C	ENSP00000505660.1:n.*386A>C
ENST00000681548.1:c.*301A>C	ENSP00000505275.1:n.*301A>C
ENST00000681616.1:c.*374A>C	ENSP00000505111.1:n.*374A>C
ENST00000681621.1:c.*299A>C	ENSP00000505770.1:n.*299A>C
ENST00000681680.1:n.2810A>C
ENST00000681720.1:c.*170A>C	ENSP00000505438.1:n.*170A>C
ENST00000681730.1:n.937A>C
ENST00000681790.1:c.457A>C	ENSP00000505130.1:p.Asn153His
ENST00000681837.1:n.1331A>C
ENST00000681913.1:n.2839A>C
ENST00000681916.1:c.*483A>C	ENSP00000506477.1:n.*483A>C
ENST00000681930.1:n.2839A>C
ENST00000370834.9:c.814A>C	ENSP00000359871.5:p.Asn272His
ENST00000370841.8:c.715A>C	ENSP00000359878.4:p.Asn239His
ENST00000420607.6:c.727A>C	ENSP00000409612.2:p.Asn243His
ENST00000525808.5:c.*301A>C	ENSP00000434823.1:n.*301A>C
ENST00000526129.5:c.*499A>C	ENSP00000434092.1:n.*499A>C
ENST00000526196.5:c.*483A>C	ENSP00000431953.1:n.*483A>C
ENST00000526930.1:n.488A>C
ENST00000529059.5:n.624A>C
ENST00000530953.6:c.*212A>C	ENSP00000431372.1:n.*212A>C
ENST00000532207.5:n.445A>C
ENST00000532509.5:c.*479A>C	ENSP00000432522.1:n.*479A>C
ENST00000534334.5:c.*299A>C	ENSP00000435584.1:n.*299A>C
ENST00000541113.5:c.607A>C	ENSP00000442324.1:p.Asn203His
NM_000016.5:c.715A>C	NP_000007.1:p.Asn239His
NM_001127328.2:c.727A>C	NP_001120800.1:p.Asn243His
NM_001286042.1:c.607A>C	NP_001272971.1:p.Asn203His
NM_001286043.1:c.814A>C	NP_001272972.1:p.Asn272His
NM_001286044.1:c.148A>C	NP_001272973.1:p.Asn50His
NM_000016.6:c.715A>C MANE Select	NP_000007.1:p.Asn239His
NM_001127328.3:c.727A>C	NP_001120800.1:p.Asn243His
NM_001286042.2:c.607A>C	NP_001272971.1:p.Asn203His
NM_001286043.2:c.814A>C	NP_001272972.1:p.Asn272His
NM_001286044.2:c.148A>C	NP_001272973.1:p.Asn50His