Canonical Allele Identifier: CA340818210

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761297-A-C
• MyVariant Identifiers: chr1:g.76226982A>C (hg19) ; chr1:g.75761297A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761297A>C , CM000663.2:g.75761297A>C	GRCh38
NC_000001.10:g.76226982A>C , CM000663.1:g.76226982A>C	GRCh37
NC_000001.9:g.75999570A>C	NCBI36
NG_007045.2:g.41940A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1121A>C MANE Select	ENSP00000359878.5:p.Gln374Pro
ENST00000473018.3:n.3245A>C
ENST00000532207.6:n.2132A>C
ENST00000541113.6:c.1025A>C	ENSP00000442324.2:p.Gln342Pro
ENST00000679509.1:n.2083A>C
ENST00000679530.1:c.*889A>C	ENSP00000506454.1:n.*889A>C
ENST00000679615.1:n.3136A>C
ENST00000679687.1:c.683A>C	ENSP00000506598.1:p.Gln228Pro
ENST00000679704.1:c.*887A>C	ENSP00000505117.1:n.*887A>C
ENST00000679709.1:c.*1084A>C	ENSP00000506623.1:n.*1084A>C
ENST00000679976.1:c.*705A>C	ENSP00000505565.1:n.*705A>C
ENST00000680166.1:n.4410A>C
ENST00000680315.1:n.1004A>C
ENST00000680517.1:c.*509A>C	ENSP00000505803.1:n.*509A>C
ENST00000680582.1:n.2083A>C
ENST00000680613.1:c.*614A>C	ENSP00000506114.1:n.*614A>C
ENST00000680662.1:c.*1035A>C	ENSP00000505080.1:n.*1035A>C
ENST00000680691.1:c.*784A>C	ENSP00000506487.1:n.*784A>C
ENST00000680694.1:c.*709A>C	ENSP00000505658.1:n.*709A>C
ENST00000680743.1:c.*910A>C	ENSP00000505073.1:n.*910A>C
ENST00000680749.1:c.*406A>C	ENSP00000505122.1:n.*406A>C
ENST00000680798.1:c.*596A>C	ENSP00000505670.1:n.*596A>C
ENST00000680805.1:c.980A>C	ENSP00000505447.1:p.Gln327Pro
ENST00000680844.1:c.*905A>C	ENSP00000506541.1:n.*905A>C
ENST00000680948.1:c.*988A>C	ENSP00000505441.1:n.*988A>C
ENST00000680964.1:c.*214A>C	ENSP00000505961.1:n.*214A>C
ENST00000681037.1:c.*2605A>C	ENSP00000506025.1:n.*2605A>C
ENST00000681063.1:c.*390A>C	ENSP00000506616.1:n.*390A>C
ENST00000681209.1:c.*776A>C	ENSP00000505877.1:n.*776A>C
ENST00000681278.1:n.1823A>C
ENST00000681289.1:n.5116A>C
ENST00000681361.1:c.*788A>C	ENSP00000506679.1:n.*788A>C
ENST00000681430.1:c.*214A>C	ENSP00000506301.1:n.*214A>C
ENST00000681446.1:c.*825A>C	ENSP00000506244.1:n.*825A>C
ENST00000681450.1:c.*792A>C	ENSP00000505660.1:n.*792A>C
ENST00000681548.1:c.*707A>C	ENSP00000505275.1:n.*707A>C
ENST00000681616.1:c.*780A>C	ENSP00000505111.1:n.*780A>C
ENST00000681621.1:c.*705A>C	ENSP00000505770.1:n.*705A>C
ENST00000681680.1:n.3216A>C
ENST00000681720.1:c.*576A>C	ENSP00000505438.1:n.*576A>C
ENST00000681730.1:n.1343A>C
ENST00000681790.1:c.863A>C	ENSP00000505130.1:p.Gln288Pro
ENST00000681837.1:n.1737A>C
ENST00000681913.1:n.3367A>C
ENST00000681916.1:c.*889A>C	ENSP00000506477.1:n.*889A>C
ENST00000681930.1:n.3245A>C
ENST00000370834.9:c.1220A>C	ENSP00000359871.5:p.Gln407Pro
ENST00000370841.8:c.1121A>C	ENSP00000359878.4:p.Gln374Pro
ENST00000420607.6:c.1133A>C	ENSP00000409612.2:p.Gln378Pro
ENST00000481374.1:n.394A>C
ENST00000525808.5:c.*707A>C	ENSP00000434823.1:n.*707A>C
ENST00000526129.5:c.*905A>C	ENSP00000434092.1:n.*905A>C
ENST00000526196.5:c.*889A>C	ENSP00000431953.1:n.*889A>C
ENST00000528016.1:c.160-7880A>C	ENSP00000434284.1:n.160-7880A>C
ENST00000529059.5:n.1030A>C
ENST00000541113.5:c.1013A>C	ENSP00000442324.1:p.Gln338Pro
NM_000016.5:c.1121A>C	NP_000007.1:p.Gln374Pro
NM_001127328.2:c.1133A>C	NP_001120800.1:p.Gln378Pro
NM_001286042.1:c.1013A>C	NP_001272971.1:p.Gln338Pro
NM_001286043.1:c.1220A>C	NP_001272972.1:p.Gln407Pro
NM_001286044.1:c.554A>C	NP_001272973.1:p.Gln185Pro
NM_000016.6:c.1121A>C MANE Select	NP_000007.1:p.Gln374Pro
NM_001127328.3:c.1133A>C	NP_001120800.1:p.Gln378Pro
NM_001286042.2:c.1013A>C	NP_001272971.1:p.Gln338Pro
NM_001286043.2:c.1220A>C	NP_001272972.1:p.Gln407Pro
NM_001286044.2:c.554A>C	NP_001272973.1:p.Gln185Pro