Canonical Allele Identifier: CA340817838

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226809C>G (hg19) ; chr1:g.75761124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761124C>G , CM000663.2:g.75761124C>G	GRCh38
NC_000001.10:g.76226809C>G , CM000663.1:g.76226809C>G	GRCh37
NC_000001.9:g.75999397C>G	NCBI36
NG_007045.2:g.41767C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.948C>G MANE Select	ENSP00000359878.5:p.His316Gln
ENST00000473018.3:n.3072C>G
ENST00000532207.6:n.1959C>G
ENST00000541113.6:c.852C>G	ENSP00000442324.2:p.His284Gln
ENST00000679509.1:n.1910C>G
ENST00000679530.1:c.*716C>G	ENSP00000506454.1:n.*716C>G
ENST00000679615.1:n.2963C>G
ENST00000679687.1:c.510C>G	ENSP00000506598.1:p.His170Gln
ENST00000679704.1:c.*714C>G	ENSP00000505117.1:n.*714C>G
ENST00000679709.1:c.*911C>G	ENSP00000506623.1:n.*911C>G
ENST00000679976.1:c.*532C>G	ENSP00000505565.1:n.*532C>G
ENST00000680166.1:n.4237C>G
ENST00000680315.1:n.831C>G
ENST00000680517.1:c.*336C>G	ENSP00000505803.1:n.*336C>G
ENST00000680582.1:n.1910C>G
ENST00000680613.1:c.*441C>G	ENSP00000506114.1:n.*441C>G
ENST00000680662.1:c.*862C>G	ENSP00000505080.1:n.*862C>G
ENST00000680691.1:c.*611C>G	ENSP00000506487.1:n.*611C>G
ENST00000680694.1:c.*536C>G	ENSP00000505658.1:n.*536C>G
ENST00000680743.1:c.*737C>G	ENSP00000505073.1:n.*737C>G
ENST00000680749.1:c.*233C>G	ENSP00000505122.1:n.*233C>G
ENST00000680798.1:c.*423C>G	ENSP00000505670.1:n.*423C>G
ENST00000680805.1:c.807C>G	ENSP00000505447.1:p.His269Gln
ENST00000680844.1:c.*732C>G	ENSP00000506541.1:n.*732C>G
ENST00000680948.1:c.*815C>G	ENSP00000505441.1:n.*815C>G
ENST00000680964.1:c.*41C>G	ENSP00000505961.1:n.*41C>G
ENST00000681037.1:c.*2432C>G	ENSP00000506025.1:n.*2432C>G
ENST00000681063.1:c.*217C>G	ENSP00000506616.1:n.*217C>G
ENST00000681209.1:c.*603C>G	ENSP00000505877.1:n.*603C>G
ENST00000681278.1:n.1650C>G
ENST00000681289.1:n.4943C>G
ENST00000681361.1:c.*615C>G	ENSP00000506679.1:n.*615C>G
ENST00000681430.1:c.*41C>G	ENSP00000506301.1:n.*41C>G
ENST00000681446.1:c.*652C>G	ENSP00000506244.1:n.*652C>G
ENST00000681450.1:c.*619C>G	ENSP00000505660.1:n.*619C>G
ENST00000681548.1:c.*534C>G	ENSP00000505275.1:n.*534C>G
ENST00000681616.1:c.*607C>G	ENSP00000505111.1:n.*607C>G
ENST00000681621.1:c.*532C>G	ENSP00000505770.1:n.*532C>G
ENST00000681680.1:n.3043C>G
ENST00000681720.1:c.*403C>G	ENSP00000505438.1:n.*403C>G
ENST00000681730.1:n.1170C>G
ENST00000681790.1:c.690C>G	ENSP00000505130.1:p.His230Gln
ENST00000681837.1:n.1564C>G
ENST00000681913.1:n.3194C>G
ENST00000681916.1:c.*716C>G	ENSP00000506477.1:n.*716C>G
ENST00000681930.1:n.3072C>G
ENST00000370834.9:c.1047C>G	ENSP00000359871.5:p.His349Gln
ENST00000370841.8:c.948C>G	ENSP00000359878.4:p.His316Gln
ENST00000420607.6:c.960C>G	ENSP00000409612.2:p.His320Gln
ENST00000481374.1:n.221C>G
ENST00000525808.5:c.*534C>G	ENSP00000434823.1:n.*534C>G
ENST00000526129.5:c.*732C>G	ENSP00000434092.1:n.*732C>G
ENST00000526196.5:c.*716C>G	ENSP00000431953.1:n.*716C>G
ENST00000528016.1:c.160-8053C>G	ENSP00000434284.1:n.160-8053C>G
ENST00000529059.5:n.857C>G
ENST00000532207.5:n.678C>G
ENST00000534334.5:c.*689C>G	ENSP00000435584.1:n.*689C>G
ENST00000541113.5:c.840C>G	ENSP00000442324.1:p.His280Gln
NM_000016.5:c.948C>G	NP_000007.1:p.His316Gln
NM_001127328.2:c.960C>G	NP_001120800.1:p.His320Gln
NM_001286042.1:c.840C>G	NP_001272971.1:p.His280Gln
NM_001286043.1:c.1047C>G	NP_001272972.1:p.His349Gln
NM_001286044.1:c.381C>G	NP_001272973.1:p.His127Gln
NM_000016.6:c.948C>G MANE Select	NP_000007.1:p.His316Gln
NM_001127328.3:c.960C>G	NP_001120800.1:p.His320Gln
NM_001286042.2:c.840C>G	NP_001272971.1:p.His280Gln
NM_001286043.2:c.1047C>G	NP_001272972.1:p.His349Gln
NM_001286044.2:c.381C>G	NP_001272973.1:p.His127Gln