Canonical Allele Identifier: CA340818060

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226910A>C (hg19) ; chr1:g.75761225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761225A>C , CM000663.2:g.75761225A>C	GRCh38
NC_000001.10:g.76226910A>C , CM000663.1:g.76226910A>C	GRCh37
NC_000001.9:g.75999498A>C	NCBI36
NG_007045.2:g.41868A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1049A>C MANE Select	ENSP00000359878.5:p.Asn350Thr
ENST00000473018.3:n.3173A>C
ENST00000532207.6:n.2060A>C
ENST00000541113.6:c.953A>C	ENSP00000442324.2:p.Asn318Thr
ENST00000679509.1:n.2011A>C
ENST00000679530.1:c.*817A>C	ENSP00000506454.1:n.*817A>C
ENST00000679615.1:n.3064A>C
ENST00000679687.1:c.611A>C	ENSP00000506598.1:p.Asn204Thr
ENST00000679704.1:c.*815A>C	ENSP00000505117.1:n.*815A>C
ENST00000679709.1:c.*1012A>C	ENSP00000506623.1:n.*1012A>C
ENST00000679976.1:c.*633A>C	ENSP00000505565.1:n.*633A>C
ENST00000680166.1:n.4338A>C
ENST00000680315.1:n.932A>C
ENST00000680517.1:c.*437A>C	ENSP00000505803.1:n.*437A>C
ENST00000680582.1:n.2011A>C
ENST00000680613.1:c.*542A>C	ENSP00000506114.1:n.*542A>C
ENST00000680662.1:c.*963A>C	ENSP00000505080.1:n.*963A>C
ENST00000680691.1:c.*712A>C	ENSP00000506487.1:n.*712A>C
ENST00000680694.1:c.*637A>C	ENSP00000505658.1:n.*637A>C
ENST00000680743.1:c.*838A>C	ENSP00000505073.1:n.*838A>C
ENST00000680749.1:c.*334A>C	ENSP00000505122.1:n.*334A>C
ENST00000680798.1:c.*524A>C	ENSP00000505670.1:n.*524A>C
ENST00000680805.1:c.908A>C	ENSP00000505447.1:p.Asn303Thr
ENST00000680844.1:c.*833A>C	ENSP00000506541.1:n.*833A>C
ENST00000680948.1:c.*916A>C	ENSP00000505441.1:n.*916A>C
ENST00000680964.1:c.*142A>C	ENSP00000505961.1:n.*142A>C
ENST00000681037.1:c.*2533A>C	ENSP00000506025.1:n.*2533A>C
ENST00000681063.1:c.*318A>C	ENSP00000506616.1:n.*318A>C
ENST00000681209.1:c.*704A>C	ENSP00000505877.1:n.*704A>C
ENST00000681278.1:n.1751A>C
ENST00000681289.1:n.5044A>C
ENST00000681361.1:c.*716A>C	ENSP00000506679.1:n.*716A>C
ENST00000681430.1:c.*142A>C	ENSP00000506301.1:n.*142A>C
ENST00000681446.1:c.*753A>C	ENSP00000506244.1:n.*753A>C
ENST00000681450.1:c.*720A>C	ENSP00000505660.1:n.*720A>C
ENST00000681548.1:c.*635A>C	ENSP00000505275.1:n.*635A>C
ENST00000681616.1:c.*708A>C	ENSP00000505111.1:n.*708A>C
ENST00000681621.1:c.*633A>C	ENSP00000505770.1:n.*633A>C
ENST00000681680.1:n.3144A>C
ENST00000681720.1:c.*504A>C	ENSP00000505438.1:n.*504A>C
ENST00000681730.1:n.1271A>C
ENST00000681790.1:c.791A>C	ENSP00000505130.1:p.Asn264Thr
ENST00000681837.1:n.1665A>C
ENST00000681913.1:n.3295A>C
ENST00000681916.1:c.*817A>C	ENSP00000506477.1:n.*817A>C
ENST00000681930.1:n.3173A>C
ENST00000370834.9:c.1148A>C	ENSP00000359871.5:p.Asn383Thr
ENST00000370841.8:c.1049A>C	ENSP00000359878.4:p.Asn350Thr
ENST00000420607.6:c.1061A>C	ENSP00000409612.2:p.Asn354Thr
ENST00000481374.1:n.322A>C
ENST00000525808.5:c.*635A>C	ENSP00000434823.1:n.*635A>C
ENST00000526129.5:c.*833A>C	ENSP00000434092.1:n.*833A>C
ENST00000526196.5:c.*817A>C	ENSP00000431953.1:n.*817A>C
ENST00000528016.1:c.160-7952A>C	ENSP00000434284.1:n.160-7952A>C
ENST00000529059.5:n.958A>C
ENST00000534334.5:c.*790A>C	ENSP00000435584.1:n.*790A>C
ENST00000541113.5:c.941A>C	ENSP00000442324.1:p.Asn314Thr
NM_000016.5:c.1049A>C	NP_000007.1:p.Asn350Thr
NM_001127328.2:c.1061A>C	NP_001120800.1:p.Asn354Thr
NM_001286042.1:c.941A>C	NP_001272971.1:p.Asn314Thr
NM_001286043.1:c.1148A>C	NP_001272972.1:p.Asn383Thr
NM_001286044.1:c.482A>C	NP_001272973.1:p.Asn161Thr
NM_000016.6:c.1049A>C MANE Select	NP_000007.1:p.Asn350Thr
NM_001127328.3:c.1061A>C	NP_001120800.1:p.Asn354Thr
NM_001286042.2:c.941A>C	NP_001272971.1:p.Asn314Thr
NM_001286043.2:c.1148A>C	NP_001272972.1:p.Asn383Thr
NM_001286044.2:c.482A>C	NP_001272973.1:p.Asn161Thr