Canonical Allele Identifier: CA340817999

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226879G>T (hg19) ; chr1:g.75761194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761194G>T , CM000663.2:g.75761194G>T	GRCh38
NC_000001.10:g.76226879G>T , CM000663.1:g.76226879G>T	GRCh37
NC_000001.9:g.75999467G>T	NCBI36
NG_007045.2:g.41837G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1018G>T MANE Select	ENSP00000359878.5:p.Ala340Ser
ENST00000473018.3:n.3142G>T
ENST00000532207.6:n.2029G>T
ENST00000541113.6:c.922G>T	ENSP00000442324.2:p.Ala308Ser
ENST00000679509.1:n.1980G>T
ENST00000679530.1:c.*786G>T	ENSP00000506454.1:n.*786G>T
ENST00000679615.1:n.3033G>T
ENST00000679687.1:c.580G>T	ENSP00000506598.1:p.Ala194Ser
ENST00000679704.1:c.*784G>T	ENSP00000505117.1:n.*784G>T
ENST00000679709.1:c.*981G>T	ENSP00000506623.1:n.*981G>T
ENST00000679976.1:c.*602G>T	ENSP00000505565.1:n.*602G>T
ENST00000680166.1:n.4307G>T
ENST00000680315.1:n.901G>T
ENST00000680517.1:c.*406G>T	ENSP00000505803.1:n.*406G>T
ENST00000680582.1:n.1980G>T
ENST00000680613.1:c.*511G>T	ENSP00000506114.1:n.*511G>T
ENST00000680662.1:c.*932G>T	ENSP00000505080.1:n.*932G>T
ENST00000680691.1:c.*681G>T	ENSP00000506487.1:n.*681G>T
ENST00000680694.1:c.*606G>T	ENSP00000505658.1:n.*606G>T
ENST00000680743.1:c.*807G>T	ENSP00000505073.1:n.*807G>T
ENST00000680749.1:c.*303G>T	ENSP00000505122.1:n.*303G>T
ENST00000680798.1:c.*493G>T	ENSP00000505670.1:n.*493G>T
ENST00000680805.1:c.877G>T	ENSP00000505447.1:p.Ala293Ser
ENST00000680844.1:c.*802G>T	ENSP00000506541.1:n.*802G>T
ENST00000680948.1:c.*885G>T	ENSP00000505441.1:n.*885G>T
ENST00000680964.1:c.*111G>T	ENSP00000505961.1:n.*111G>T
ENST00000681037.1:c.*2502G>T	ENSP00000506025.1:n.*2502G>T
ENST00000681063.1:c.*287G>T	ENSP00000506616.1:n.*287G>T
ENST00000681209.1:c.*673G>T	ENSP00000505877.1:n.*673G>T
ENST00000681278.1:n.1720G>T
ENST00000681289.1:n.5013G>T
ENST00000681361.1:c.*685G>T	ENSP00000506679.1:n.*685G>T
ENST00000681430.1:c.*111G>T	ENSP00000506301.1:n.*111G>T
ENST00000681446.1:c.*722G>T	ENSP00000506244.1:n.*722G>T
ENST00000681450.1:c.*689G>T	ENSP00000505660.1:n.*689G>T
ENST00000681548.1:c.*604G>T	ENSP00000505275.1:n.*604G>T
ENST00000681616.1:c.*677G>T	ENSP00000505111.1:n.*677G>T
ENST00000681621.1:c.*602G>T	ENSP00000505770.1:n.*602G>T
ENST00000681680.1:n.3113G>T
ENST00000681720.1:c.*473G>T	ENSP00000505438.1:n.*473G>T
ENST00000681730.1:n.1240G>T
ENST00000681790.1:c.760G>T	ENSP00000505130.1:p.Ala254Ser
ENST00000681837.1:n.1634G>T
ENST00000681913.1:n.3264G>T
ENST00000681916.1:c.*786G>T	ENSP00000506477.1:n.*786G>T
ENST00000681930.1:n.3142G>T
ENST00000370834.9:c.1117G>T	ENSP00000359871.5:p.Ala373Ser
ENST00000370841.8:c.1018G>T	ENSP00000359878.4:p.Ala340Ser
ENST00000420607.6:c.1030G>T	ENSP00000409612.2:p.Ala344Ser
ENST00000481374.1:n.291G>T
ENST00000525808.5:c.*604G>T	ENSP00000434823.1:n.*604G>T
ENST00000526129.5:c.*802G>T	ENSP00000434092.1:n.*802G>T
ENST00000526196.5:c.*786G>T	ENSP00000431953.1:n.*786G>T
ENST00000528016.1:c.160-7983G>T	ENSP00000434284.1:n.160-7983G>T
ENST00000529059.5:n.927G>T
ENST00000532207.5:n.748G>T
ENST00000534334.5:c.*759G>T	ENSP00000435584.1:n.*759G>T
ENST00000541113.5:c.910G>T	ENSP00000442324.1:p.Ala304Ser
NM_000016.5:c.1018G>T	NP_000007.1:p.Ala340Ser
NM_001127328.2:c.1030G>T	NP_001120800.1:p.Ala344Ser
NM_001286042.1:c.910G>T	NP_001272971.1:p.Ala304Ser
NM_001286043.1:c.1117G>T	NP_001272972.1:p.Ala373Ser
NM_001286044.1:c.451G>T	NP_001272973.1:p.Ala151Ser
NM_000016.6:c.1018G>T MANE Select	NP_000007.1:p.Ala340Ser
NM_001127328.3:c.1030G>T	NP_001120800.1:p.Ala344Ser
NM_001286042.2:c.910G>T	NP_001272971.1:p.Ala304Ser
NM_001286043.2:c.1117G>T	NP_001272972.1:p.Ala373Ser
NM_001286044.2:c.451G>T	NP_001272973.1:p.Ala151Ser