Canonical Allele Identifier: CA340818057

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226909A>C (hg19) ; chr1:g.75761224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761224A>C , CM000663.2:g.75761224A>C	GRCh38
NC_000001.10:g.76226909A>C , CM000663.1:g.76226909A>C	GRCh37
NC_000001.9:g.75999497A>C	NCBI36
NG_007045.2:g.41867A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1048A>C MANE Select	ENSP00000359878.5:p.Asn350His
ENST00000473018.3:n.3172A>C
ENST00000532207.6:n.2059A>C
ENST00000541113.6:c.952A>C	ENSP00000442324.2:p.Asn318His
ENST00000679509.1:n.2010A>C
ENST00000679530.1:c.*816A>C	ENSP00000506454.1:n.*816A>C
ENST00000679615.1:n.3063A>C
ENST00000679687.1:c.610A>C	ENSP00000506598.1:p.Asn204His
ENST00000679704.1:c.*814A>C	ENSP00000505117.1:n.*814A>C
ENST00000679709.1:c.*1011A>C	ENSP00000506623.1:n.*1011A>C
ENST00000679976.1:c.*632A>C	ENSP00000505565.1:n.*632A>C
ENST00000680166.1:n.4337A>C
ENST00000680315.1:n.931A>C
ENST00000680517.1:c.*436A>C	ENSP00000505803.1:n.*436A>C
ENST00000680582.1:n.2010A>C
ENST00000680613.1:c.*541A>C	ENSP00000506114.1:n.*541A>C
ENST00000680662.1:c.*962A>C	ENSP00000505080.1:n.*962A>C
ENST00000680691.1:c.*711A>C	ENSP00000506487.1:n.*711A>C
ENST00000680694.1:c.*636A>C	ENSP00000505658.1:n.*636A>C
ENST00000680743.1:c.*837A>C	ENSP00000505073.1:n.*837A>C
ENST00000680749.1:c.*333A>C	ENSP00000505122.1:n.*333A>C
ENST00000680798.1:c.*523A>C	ENSP00000505670.1:n.*523A>C
ENST00000680805.1:c.907A>C	ENSP00000505447.1:p.Asn303His
ENST00000680844.1:c.*832A>C	ENSP00000506541.1:n.*832A>C
ENST00000680948.1:c.*915A>C	ENSP00000505441.1:n.*915A>C
ENST00000680964.1:c.*141A>C	ENSP00000505961.1:n.*141A>C
ENST00000681037.1:c.*2532A>C	ENSP00000506025.1:n.*2532A>C
ENST00000681063.1:c.*317A>C	ENSP00000506616.1:n.*317A>C
ENST00000681209.1:c.*703A>C	ENSP00000505877.1:n.*703A>C
ENST00000681278.1:n.1750A>C
ENST00000681289.1:n.5043A>C
ENST00000681361.1:c.*715A>C	ENSP00000506679.1:n.*715A>C
ENST00000681430.1:c.*141A>C	ENSP00000506301.1:n.*141A>C
ENST00000681446.1:c.*752A>C	ENSP00000506244.1:n.*752A>C
ENST00000681450.1:c.*719A>C	ENSP00000505660.1:n.*719A>C
ENST00000681548.1:c.*634A>C	ENSP00000505275.1:n.*634A>C
ENST00000681616.1:c.*707A>C	ENSP00000505111.1:n.*707A>C
ENST00000681621.1:c.*632A>C	ENSP00000505770.1:n.*632A>C
ENST00000681680.1:n.3143A>C
ENST00000681720.1:c.*503A>C	ENSP00000505438.1:n.*503A>C
ENST00000681730.1:n.1270A>C
ENST00000681790.1:c.790A>C	ENSP00000505130.1:p.Asn264His
ENST00000681837.1:n.1664A>C
ENST00000681913.1:n.3294A>C
ENST00000681916.1:c.*816A>C	ENSP00000506477.1:n.*816A>C
ENST00000681930.1:n.3172A>C
ENST00000370834.9:c.1147A>C	ENSP00000359871.5:p.Asn383His
ENST00000370841.8:c.1048A>C	ENSP00000359878.4:p.Asn350His
ENST00000420607.6:c.1060A>C	ENSP00000409612.2:p.Asn354His
ENST00000481374.1:n.321A>C
ENST00000525808.5:c.*634A>C	ENSP00000434823.1:n.*634A>C
ENST00000526129.5:c.*832A>C	ENSP00000434092.1:n.*832A>C
ENST00000526196.5:c.*816A>C	ENSP00000431953.1:n.*816A>C
ENST00000528016.1:c.160-7953A>C	ENSP00000434284.1:n.160-7953A>C
ENST00000529059.5:n.957A>C
ENST00000534334.5:c.*789A>C	ENSP00000435584.1:n.*789A>C
ENST00000541113.5:c.940A>C	ENSP00000442324.1:p.Asn314His
NM_000016.5:c.1048A>C	NP_000007.1:p.Asn350His
NM_001127328.2:c.1060A>C	NP_001120800.1:p.Asn354His
NM_001286042.1:c.940A>C	NP_001272971.1:p.Asn314His
NM_001286043.1:c.1147A>C	NP_001272972.1:p.Asn383His
NM_001286044.1:c.481A>C	NP_001272973.1:p.Asn161His
NM_000016.6:c.1048A>C MANE Select	NP_000007.1:p.Asn350His
NM_001127328.3:c.1060A>C	NP_001120800.1:p.Asn354His
NM_001286042.2:c.940A>C	NP_001272971.1:p.Asn314His
NM_001286043.2:c.1147A>C	NP_001272972.1:p.Asn383His
NM_001286044.2:c.481A>C	NP_001272973.1:p.Asn161His