Canonical Allele Identifier: CA340816809

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2021513
• ClinVar RCV Id: RCV002866345
• MyVariant Identifiers: chr1:g.76215230A>T (hg19) ; chr1:g.75749545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749545A>T , CM000663.2:g.75749545A>T	GRCh38
NC_000001.10:g.76215230A>T , CM000663.1:g.76215230A>T	GRCh37
NC_000001.9:g.75987818A>T	NCBI36
NG_007045.2:g.30188A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.835A>T MANE Select	ENSP00000359878.5:p.Lys279Ter
ENST00000473018.3:n.2959A>T
ENST00000532207.6:n.1724A>T
ENST00000541113.6:c.835A>T	ENSP00000442324.2:p.Lys279Ter
ENST00000679509.1:n.1797A>T
ENST00000679530.1:c.*603A>T	ENSP00000506454.1:n.*603A>T
ENST00000679615.1:n.2850A>T
ENST00000679687.1:c.397A>T	ENSP00000506598.1:p.Lys133Ter
ENST00000679704.1:c.*601A>T	ENSP00000505117.1:n.*601A>T
ENST00000679709.1:c.*798A>T	ENSP00000506623.1:n.*798A>T
ENST00000679976.1:c.*419A>T	ENSP00000505565.1:n.*419A>T
ENST00000680166.1:n.4124A>T
ENST00000680517.1:c.*223A>T	ENSP00000505803.1:n.*223A>T
ENST00000680582.1:n.1797A>T
ENST00000680613.1:c.*206A>T	ENSP00000506114.1:n.*206A>T
ENST00000680662.1:c.*749A>T	ENSP00000505080.1:n.*749A>T
ENST00000680691.1:c.*498A>T	ENSP00000506487.1:n.*498A>T
ENST00000680694.1:c.*423A>T	ENSP00000505658.1:n.*423A>T
ENST00000680743.1:c.*502A>T	ENSP00000505073.1:n.*502A>T
ENST00000680749.1:c.*120A>T	ENSP00000505122.1:n.*120A>T
ENST00000680798.1:c.*310A>T	ENSP00000505670.1:n.*310A>T
ENST00000680805.1:c.709-906A>T	ENSP00000505447.1:n.709-906A>T
ENST00000680844.1:c.*619A>T	ENSP00000506541.1:n.*619A>T
ENST00000680948.1:c.*702A>T	ENSP00000505441.1:n.*702A>T
ENST00000680964.1:c.835A>T	ENSP00000505961.1:p.Lys279Ter
ENST00000681037.1:c.*2319A>T	ENSP00000506025.1:n.*2319A>T
ENST00000681063.1:c.600-906A>T	ENSP00000506616.1:n.600-906A>T
ENST00000681209.1:c.*490A>T	ENSP00000505877.1:n.*490A>T
ENST00000681278.1:n.1192A>T
ENST00000681289.1:n.4830A>T
ENST00000681361.1:c.*502A>T	ENSP00000506679.1:n.*502A>T
ENST00000681430.1:c.835A>T	ENSP00000506301.1:p.Lys279Ter
ENST00000681446.1:c.*417A>T	ENSP00000506244.1:n.*417A>T
ENST00000681450.1:c.*506A>T	ENSP00000505660.1:n.*506A>T
ENST00000681548.1:c.*421A>T	ENSP00000505275.1:n.*421A>T
ENST00000681616.1:c.*494A>T	ENSP00000505111.1:n.*494A>T
ENST00000681621.1:c.*419A>T	ENSP00000505770.1:n.*419A>T
ENST00000681680.1:n.2930A>T
ENST00000681720.1:c.*290A>T	ENSP00000505438.1:n.*290A>T
ENST00000681730.1:n.1057A>T
ENST00000681790.1:c.577A>T	ENSP00000505130.1:p.Lys193Ter
ENST00000681837.1:n.1451A>T
ENST00000681913.1:n.2959A>T
ENST00000681916.1:c.*603A>T	ENSP00000506477.1:n.*603A>T
ENST00000681930.1:n.2959A>T
ENST00000370834.9:c.934A>T	ENSP00000359871.5:p.Lys312Ter
ENST00000370841.8:c.835A>T	ENSP00000359878.4:p.Lys279Ter
ENST00000420607.6:c.847A>T	ENSP00000409612.2:p.Lys283Ter
ENST00000525808.5:c.*421A>T	ENSP00000434823.1:n.*421A>T
ENST00000526129.5:c.*619A>T	ENSP00000434092.1:n.*619A>T
ENST00000526196.5:c.*603A>T	ENSP00000431953.1:n.*603A>T
ENST00000528016.1:c.49A>T	ENSP00000434284.1:p.Lys17Ter
ENST00000529059.5:n.744A>T
ENST00000532207.5:n.565A>T
ENST00000532509.5:c.*599A>T	ENSP00000432522.1:n.*599A>T
ENST00000534334.5:c.*419A>T	ENSP00000435584.1:n.*419A>T
ENST00000541113.5:c.727A>T	ENSP00000442324.1:p.Lys243Ter
NM_000016.5:c.835A>T	NP_000007.1:p.Lys279Ter
NM_001127328.2:c.847A>T	NP_001120800.1:p.Lys283Ter
NM_001286042.1:c.727A>T	NP_001272971.1:p.Lys243Ter
NM_001286043.1:c.934A>T	NP_001272972.1:p.Lys312Ter
NM_001286044.1:c.268A>T	NP_001272973.1:p.Lys90Ter
NM_000016.6:c.835A>T MANE Select	NP_000007.1:p.Lys279Ter
NM_001127328.3:c.847A>T	NP_001120800.1:p.Lys283Ter
NM_001286042.2:c.727A>T	NP_001272971.1:p.Lys243Ter
NM_001286043.2:c.934A>T	NP_001272972.1:p.Lys312Ter
NM_001286044.2:c.268A>T	NP_001272973.1:p.Lys90Ter