Canonical Allele Identifier: CA340812945

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76200530A>T (hg19) ; chr1:g.75734845A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75734845A>T , CM000663.2:g.75734845A>T	GRCh38
NC_000001.10:g.76200530A>T , CM000663.1:g.76200530A>T	GRCh37
NC_000001.9:g.75973118A>T	NCBI36
NG_007045.2:g.15488A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.442A>T MANE Select	ENSP00000359878.5:p.Arg148Ter
ENST00000473018.3:n.2566A>T
ENST00000525881.6:n.1404A>T
ENST00000541113.6:c.442A>T	ENSP00000442324.2:p.Arg148Ter
ENST00000679509.1:n.1404A>T
ENST00000679530.1:c.*210A>T	ENSP00000506454.1:n.*210A>T
ENST00000679615.1:n.2566A>T
ENST00000679687.1:c.31-5135A>T	ENSP00000506598.1:n.31-5135A>T
ENST00000679704.1:c.*208A>T	ENSP00000505117.1:n.*208A>T
ENST00000679709.1:c.*405A>T	ENSP00000506623.1:n.*405A>T
ENST00000679804.1:n.207+1923A>T
ENST00000679976.1:c.*26A>T	ENSP00000505565.1:n.*26A>T
ENST00000680166.1:n.3731A>T
ENST00000680517.1:c.286+1923A>T	ENSP00000505803.1:n.286+1923A>T
ENST00000680582.1:n.1404A>T
ENST00000680613.1:c.442A>T	ENSP00000506114.1:p.Arg148Ter
ENST00000680662.1:c.*356A>T	ENSP00000505080.1:n.*356A>T
ENST00000680691.1:c.*105A>T	ENSP00000506487.1:n.*105A>T
ENST00000680694.1:c.*26A>T	ENSP00000505658.1:n.*26A>T
ENST00000680743.1:c.*109A>T	ENSP00000505073.1:n.*109A>T
ENST00000680749.1:c.442A>T	ENSP00000505122.1:p.Arg148Ter
ENST00000680798.1:c.*26A>T	ENSP00000505670.1:n.*26A>T
ENST00000680805.1:c.442A>T	ENSP00000505447.1:p.Arg148Ter
ENST00000680844.1:c.*226A>T	ENSP00000506541.1:n.*226A>T
ENST00000680948.1:c.*309A>T	ENSP00000505441.1:n.*309A>T
ENST00000680964.1:c.442A>T	ENSP00000505961.1:p.Arg148Ter
ENST00000681037.1:c.442A>T	ENSP00000506025.1:p.Arg148Ter
ENST00000681063.1:c.442A>T	ENSP00000506616.1:p.Arg148Ter
ENST00000681209.1:c.*206A>T	ENSP00000505877.1:n.*206A>T
ENST00000681278.1:n.799A>T
ENST00000681289.1:n.799A>T
ENST00000681361.1:c.*109A>T	ENSP00000506679.1:n.*109A>T
ENST00000681430.1:c.442A>T	ENSP00000506301.1:p.Arg148Ter
ENST00000681446.1:c.*26A>T	ENSP00000506244.1:n.*26A>T
ENST00000681450.1:c.*109A>T	ENSP00000505660.1:n.*109A>T
ENST00000681548.1:c.*54+1923A>T	ENSP00000505275.1:n.*54+1923A>T
ENST00000681616.1:c.*210A>T	ENSP00000505111.1:n.*210A>T
ENST00000681621.1:c.*26A>T	ENSP00000505770.1:n.*26A>T
ENST00000681680.1:n.2566A>T
ENST00000681720.1:c.*54+1923A>T	ENSP00000505438.1:n.*54+1923A>T
ENST00000681730.1:n.664A>T
ENST00000681790.1:c.184A>T	ENSP00000505130.1:p.Arg62Ter
ENST00000681837.1:n.1058A>T
ENST00000681913.1:n.2566A>T
ENST00000681916.1:c.*210A>T	ENSP00000506477.1:n.*210A>T
ENST00000681930.1:n.2566A>T
ENST00000370834.9:c.541A>T	ENSP00000359871.5:p.Arg181Ter
ENST00000370841.8:c.442A>T	ENSP00000359878.4:p.Arg148Ter
ENST00000420607.6:c.454A>T	ENSP00000409612.2:p.Arg152Ter
ENST00000525808.5:c.*54+1923A>T	ENSP00000434823.1:n.*54+1923A>T
ENST00000526129.5:c.*226A>T	ENSP00000434092.1:n.*226A>T
ENST00000526196.5:c.*210A>T	ENSP00000431953.1:n.*210A>T
ENST00000526930.1:n.215A>T
ENST00000529059.5:n.351A>T
ENST00000530953.6:c.119-5135A>T	ENSP00000431372.1:n.119-5135A>T
ENST00000532509.5:c.*206A>T	ENSP00000432522.1:n.*206A>T
ENST00000534334.5:c.*26A>T	ENSP00000435584.1:n.*26A>T
ENST00000541113.5:c.334A>T	ENSP00000442324.1:p.Arg112Ter
NM_000016.5:c.442A>T	NP_000007.1:p.Arg148Ter
NM_001127328.2:c.454A>T	NP_001120800.1:p.Arg152Ter
NM_001286042.1:c.334A>T	NP_001272971.1:p.Arg112Ter
NM_001286043.1:c.541A>T	NP_001272972.1:p.Arg181Ter
NM_001286044.1:c.-100+1923A>T	NP_001272973.1:n.-100+1923A>T
NM_000016.6:c.442A>T MANE Select	NP_000007.1:p.Arg148Ter
NM_001127328.3:c.454A>T	NP_001120800.1:p.Arg152Ter
NM_001286042.2:c.334A>T	NP_001272971.1:p.Arg112Ter
NM_001286043.2:c.541A>T	NP_001272972.1:p.Arg181Ter
NM_001286044.2:c.-100+1923A>T	NP_001272973.1:n.-100+1923A>T