Canonical Allele Identifier: CA418544844

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215166G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749481G>T , CM000663.2:g.75749481G>T	GRCh38
NC_000001.10:g.76215166G>T , CM000663.1:g.76215166G>T	GRCh37
NC_000001.9:g.75987754G>T	NCBI36
NG_007045.2:g.30124G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.771G>T MANE Select	ENSP00000359878.5:p.Val257=
ENST00000473018.3:n.2895G>T
ENST00000532207.6:n.1660G>T
ENST00000541113.6:c.771G>T	ENSP00000442324.2:p.Val257=
ENST00000679509.1:n.1733G>T
ENST00000679530.1:c.*539G>T	ENSP00000506454.1:n.*539G>T
ENST00000679615.1:n.2786G>T
ENST00000679687.1:c.333G>T	ENSP00000506598.1:p.Val111=
ENST00000679704.1:c.*537G>T	ENSP00000505117.1:n.*537G>T
ENST00000679709.1:c.*734G>T	ENSP00000506623.1:n.*734G>T
ENST00000679976.1:c.*355G>T	ENSP00000505565.1:n.*355G>T
ENST00000680166.1:n.4060G>T
ENST00000680517.1:c.*159G>T	ENSP00000505803.1:n.*159G>T
ENST00000680582.1:n.1733G>T
ENST00000680613.1:c.*142G>T	ENSP00000506114.1:n.*142G>T
ENST00000680662.1:c.*685G>T	ENSP00000505080.1:n.*685G>T
ENST00000680691.1:c.*434G>T	ENSP00000506487.1:n.*434G>T
ENST00000680694.1:c.*359G>T	ENSP00000505658.1:n.*359G>T
ENST00000680743.1:c.*438G>T	ENSP00000505073.1:n.*438G>T
ENST00000680749.1:c.*56G>T	ENSP00000505122.1:n.*56G>T
ENST00000680798.1:c.*246G>T	ENSP00000505670.1:n.*246G>T
ENST00000680805.1:c.709-970G>T	ENSP00000505447.1:n.709-970G>T
ENST00000680844.1:c.*555G>T	ENSP00000506541.1:n.*555G>T
ENST00000680948.1:c.*638G>T	ENSP00000505441.1:n.*638G>T
ENST00000680964.1:c.771G>T	ENSP00000505961.1:p.Val257=
ENST00000681037.1:c.*2255G>T	ENSP00000506025.1:n.*2255G>T
ENST00000681063.1:c.600-970G>T	ENSP00000506616.1:n.600-970G>T
ENST00000681209.1:c.*426G>T	ENSP00000505877.1:n.*426G>T
ENST00000681278.1:n.1128G>T
ENST00000681289.1:n.4766G>T
ENST00000681361.1:c.*438G>T	ENSP00000506679.1:n.*438G>T
ENST00000681430.1:c.771G>T	ENSP00000506301.1:p.Val257=
ENST00000681446.1:c.*353G>T	ENSP00000506244.1:n.*353G>T
ENST00000681450.1:c.*442G>T	ENSP00000505660.1:n.*442G>T
ENST00000681548.1:c.*357G>T	ENSP00000505275.1:n.*357G>T
ENST00000681616.1:c.*430G>T	ENSP00000505111.1:n.*430G>T
ENST00000681621.1:c.*355G>T	ENSP00000505770.1:n.*355G>T
ENST00000681680.1:n.2866G>T
ENST00000681720.1:c.*226G>T	ENSP00000505438.1:n.*226G>T
ENST00000681730.1:n.993G>T
ENST00000681790.1:c.513G>T	ENSP00000505130.1:p.Val171=
ENST00000681837.1:n.1387G>T
ENST00000681913.1:n.2895G>T
ENST00000681916.1:c.*539G>T	ENSP00000506477.1:n.*539G>T
ENST00000681930.1:n.2895G>T
ENST00000370834.9:c.870G>T	ENSP00000359871.5:p.Val290=
ENST00000370841.8:c.771G>T	ENSP00000359878.4:p.Val257=
ENST00000420607.6:c.783G>T	ENSP00000409612.2:p.Val261=
ENST00000525808.5:c.*357G>T	ENSP00000434823.1:n.*357G>T
ENST00000526129.5:c.*555G>T	ENSP00000434092.1:n.*555G>T
ENST00000526196.5:c.*539G>T	ENSP00000431953.1:n.*539G>T
ENST00000526930.1:n.544G>T
ENST00000529059.5:n.680G>T
ENST00000530953.6:c.*268G>T	ENSP00000431372.1:n.*268G>T
ENST00000532207.5:n.501G>T
ENST00000532509.5:c.*535G>T	ENSP00000432522.1:n.*535G>T
ENST00000534334.5:c.*355G>T	ENSP00000435584.1:n.*355G>T
ENST00000541113.5:c.663G>T	ENSP00000442324.1:p.Val221=
NM_000016.5:c.771G>T	NP_000007.1:p.Val257=
NM_001127328.2:c.783G>T	NP_001120800.1:p.Val261=
NM_001286042.1:c.663G>T	NP_001272971.1:p.Val221=
NM_001286043.1:c.870G>T	NP_001272972.1:p.Val290=
NM_001286044.1:c.204G>T	NP_001272973.1:p.Val68=
NM_000016.6:c.771G>T MANE Select	NP_000007.1:p.Val257=
NM_001127328.3:c.783G>T	NP_001120800.1:p.Val261=
NM_001286042.2:c.663G>T	NP_001272971.1:p.Val221=
NM_001286043.2:c.870G>T	NP_001272972.1:p.Val290=
NM_001286044.2:c.204G>T	NP_001272973.1:p.Val68=