Canonical Allele Identifier: CA340818261

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761320-A-C
• MyVariant Identifiers: chr1:g.76227005A>C (hg19) ; chr1:g.75761320A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761320A>C , CM000663.2:g.75761320A>C	GRCh38
NC_000001.10:g.76227005A>C , CM000663.1:g.76227005A>C	GRCh37
NC_000001.9:g.75999593A>C	NCBI36
NG_007045.2:g.41963A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1144A>C MANE Select	ENSP00000359878.5:p.Asn382His
ENST00000473018.3:n.3268A>C
ENST00000532207.6:n.2155A>C
ENST00000541113.6:c.1048A>C	ENSP00000442324.2:p.Asn350His
ENST00000679509.1:n.2106A>C
ENST00000679530.1:c.*912A>C	ENSP00000506454.1:n.*912A>C
ENST00000679615.1:n.3159A>C
ENST00000679687.1:c.706A>C	ENSP00000506598.1:p.Asn236His
ENST00000679704.1:c.*910A>C	ENSP00000505117.1:n.*910A>C
ENST00000679709.1:c.*1107A>C	ENSP00000506623.1:n.*1107A>C
ENST00000679976.1:c.*728A>C	ENSP00000505565.1:n.*728A>C
ENST00000680166.1:n.4433A>C
ENST00000680315.1:n.1027A>C
ENST00000680517.1:c.*532A>C	ENSP00000505803.1:n.*532A>C
ENST00000680582.1:n.2106A>C
ENST00000680613.1:c.*637A>C	ENSP00000506114.1:n.*637A>C
ENST00000680662.1:c.*1058A>C	ENSP00000505080.1:n.*1058A>C
ENST00000680691.1:c.*807A>C	ENSP00000506487.1:n.*807A>C
ENST00000680694.1:c.*732A>C	ENSP00000505658.1:n.*732A>C
ENST00000680743.1:c.*933A>C	ENSP00000505073.1:n.*933A>C
ENST00000680749.1:c.*429A>C	ENSP00000505122.1:n.*429A>C
ENST00000680798.1:c.*619A>C	ENSP00000505670.1:n.*619A>C
ENST00000680805.1:c.1003A>C	ENSP00000505447.1:p.Asn335His
ENST00000680844.1:c.*928A>C	ENSP00000506541.1:n.*928A>C
ENST00000680948.1:c.*1011A>C	ENSP00000505441.1:n.*1011A>C
ENST00000680964.1:c.*237A>C	ENSP00000505961.1:n.*237A>C
ENST00000681037.1:c.*2628A>C	ENSP00000506025.1:n.*2628A>C
ENST00000681063.1:c.*413A>C	ENSP00000506616.1:n.*413A>C
ENST00000681209.1:c.*799A>C	ENSP00000505877.1:n.*799A>C
ENST00000681278.1:n.1846A>C
ENST00000681289.1:n.5139A>C
ENST00000681361.1:c.*811A>C	ENSP00000506679.1:n.*811A>C
ENST00000681430.1:c.*237A>C	ENSP00000506301.1:n.*237A>C
ENST00000681446.1:c.*848A>C	ENSP00000506244.1:n.*848A>C
ENST00000681450.1:c.*815A>C	ENSP00000505660.1:n.*815A>C
ENST00000681548.1:c.*730A>C	ENSP00000505275.1:n.*730A>C
ENST00000681616.1:c.*803A>C	ENSP00000505111.1:n.*803A>C
ENST00000681621.1:c.*728A>C	ENSP00000505770.1:n.*728A>C
ENST00000681680.1:n.3239A>C
ENST00000681720.1:c.*599A>C	ENSP00000505438.1:n.*599A>C
ENST00000681730.1:n.1366A>C
ENST00000681790.1:c.886A>C	ENSP00000505130.1:p.Asn296His
ENST00000681837.1:n.1760A>C
ENST00000681913.1:n.3390A>C
ENST00000681916.1:c.*912A>C	ENSP00000506477.1:n.*912A>C
ENST00000681930.1:n.3268A>C
ENST00000370834.9:c.1243A>C	ENSP00000359871.5:p.Asn415His
ENST00000370841.8:c.1144A>C	ENSP00000359878.4:p.Asn382His
ENST00000420607.6:c.1156A>C	ENSP00000409612.2:p.Asn386His
ENST00000481374.1:n.417A>C
ENST00000525808.5:c.*730A>C	ENSP00000434823.1:n.*730A>C
ENST00000526129.5:c.*928A>C	ENSP00000434092.1:n.*928A>C
ENST00000526196.5:c.*912A>C	ENSP00000431953.1:n.*912A>C
ENST00000528016.1:c.160-7857A>C	ENSP00000434284.1:n.160-7857A>C
ENST00000529059.5:n.1053A>C
ENST00000541113.5:c.1036A>C	ENSP00000442324.1:p.Asn346His
NM_000016.5:c.1144A>C	NP_000007.1:p.Asn382His
NM_001127328.2:c.1156A>C	NP_001120800.1:p.Asn386His
NM_001286042.1:c.1036A>C	NP_001272971.1:p.Asn346His
NM_001286043.1:c.1243A>C	NP_001272972.1:p.Asn415His
NM_001286044.1:c.577A>C	NP_001272973.1:p.Asn193His
NM_000016.6:c.1144A>C MANE Select	NP_000007.1:p.Asn382His
NM_001127328.3:c.1156A>C	NP_001120800.1:p.Asn386His
NM_001286042.2:c.1036A>C	NP_001272971.1:p.Asn346His
NM_001286043.2:c.1243A>C	NP_001272972.1:p.Asn415His
NM_001286044.2:c.577A>C	NP_001272973.1:p.Asn193His