Canonical Allele Identifier: CA340815853

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76211514A>T (hg19) ; chr1:g.75745829A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745829A>T , CM000663.2:g.75745829A>T	GRCh38
NC_000001.10:g.76211514A>T , CM000663.1:g.76211514A>T	GRCh37
NC_000001.9:g.75984102A>T	NCBI36
NG_007045.2:g.26472A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.623A>T MANE Select	ENSP00000359878.5:p.Asp208Val
ENST00000473018.3:n.2747A>T
ENST00000532207.6:n.1512A>T
ENST00000541113.6:c.623A>T	ENSP00000442324.2:p.Asp208Val
ENST00000679509.1:n.1585A>T
ENST00000679530.1:c.*391A>T	ENSP00000506454.1:n.*391A>T
ENST00000679615.1:n.2724-3590A>T
ENST00000679687.1:c.185A>T	ENSP00000506598.1:p.Asp62Val
ENST00000679704.1:c.*389A>T	ENSP00000505117.1:n.*389A>T
ENST00000679709.1:c.*586A>T	ENSP00000506623.1:n.*586A>T
ENST00000679976.1:c.*207A>T	ENSP00000505565.1:n.*207A>T
ENST00000680166.1:n.3912A>T
ENST00000680517.1:c.*97-3590A>T	ENSP00000505803.1:n.*97-3590A>T
ENST00000680582.1:n.1585A>T
ENST00000680613.1:c.600-6A>T	ENSP00000506114.1:n.600-6A>T
ENST00000680662.1:c.*537A>T	ENSP00000505080.1:n.*537A>T
ENST00000680691.1:c.*286A>T	ENSP00000506487.1:n.*286A>T
ENST00000680694.1:c.*211A>T	ENSP00000505658.1:n.*211A>T
ENST00000680743.1:c.*290A>T	ENSP00000505073.1:n.*290A>T
ENST00000680749.1:c.600-3590A>T	ENSP00000505122.1:n.600-3590A>T
ENST00000680798.1:c.*184-3590A>T	ENSP00000505670.1:n.*184-3590A>T
ENST00000680805.1:c.623A>T	ENSP00000505447.1:p.Asp208Val
ENST00000680844.1:c.*407A>T	ENSP00000506541.1:n.*407A>T
ENST00000680948.1:c.*490A>T	ENSP00000505441.1:n.*490A>T
ENST00000680964.1:c.623A>T	ENSP00000505961.1:p.Asp208Val
ENST00000681037.1:c.*2113-6A>T	ENSP00000506025.1:n.*2113-6A>T
ENST00000681063.1:c.600-4622A>T	ENSP00000506616.1:n.600-4622A>T
ENST00000681209.1:c.*364-3590A>T	ENSP00000505877.1:n.*364-3590A>T
ENST00000681278.1:n.980A>T
ENST00000681289.1:n.4618A>T
ENST00000681361.1:c.*290A>T	ENSP00000506679.1:n.*290A>T
ENST00000681430.1:c.623A>T	ENSP00000506301.1:p.Asp208Val
ENST00000681446.1:c.*205A>T	ENSP00000506244.1:n.*205A>T
ENST00000681450.1:c.*294A>T	ENSP00000505660.1:n.*294A>T
ENST00000681548.1:c.*209A>T	ENSP00000505275.1:n.*209A>T
ENST00000681616.1:c.*368-3590A>T	ENSP00000505111.1:n.*368-3590A>T
ENST00000681621.1:c.*207A>T	ENSP00000505770.1:n.*207A>T
ENST00000681680.1:n.2724-6A>T
ENST00000681720.1:c.*78A>T	ENSP00000505438.1:n.*78A>T
ENST00000681730.1:n.845A>T
ENST00000681790.1:c.365A>T	ENSP00000505130.1:p.Asp122Val
ENST00000681837.1:n.1239A>T
ENST00000681913.1:n.2747A>T
ENST00000681916.1:c.*391A>T	ENSP00000506477.1:n.*391A>T
ENST00000681930.1:n.2747A>T
ENST00000370834.9:c.722A>T	ENSP00000359871.5:p.Asp241Val
ENST00000370841.8:c.623A>T	ENSP00000359878.4:p.Asp208Val
ENST00000420607.6:c.635A>T	ENSP00000409612.2:p.Asp212Val
ENST00000525808.5:c.*209A>T	ENSP00000434823.1:n.*209A>T
ENST00000526129.5:c.*407A>T	ENSP00000434092.1:n.*407A>T
ENST00000526196.5:c.*391A>T	ENSP00000431953.1:n.*391A>T
ENST00000526930.1:n.396A>T
ENST00000529059.5:n.532A>T
ENST00000530953.6:c.*120A>T	ENSP00000431372.1:n.*120A>T
ENST00000532207.5:n.353A>T
ENST00000532509.5:c.*387A>T	ENSP00000432522.1:n.*387A>T
ENST00000534334.5:c.*207A>T	ENSP00000435584.1:n.*207A>T
ENST00000541113.5:c.515A>T	ENSP00000442324.1:p.Asp172Val
NM_000016.5:c.623A>T	NP_000007.1:p.Asp208Val
NM_001127328.2:c.635A>T	NP_001120800.1:p.Asp212Val
NM_001286042.1:c.515A>T	NP_001272971.1:p.Asp172Val
NM_001286043.1:c.722A>T	NP_001272972.1:p.Asp241Val
NM_001286044.1:c.56A>T	NP_001272973.1:p.Asp19Val
NM_000016.6:c.623A>T MANE Select	NP_000007.1:p.Asp208Val
NM_001127328.3:c.635A>T	NP_001120800.1:p.Asp212Val
NM_001286042.2:c.515A>T	NP_001272971.1:p.Asp172Val
NM_001286043.2:c.722A>T	NP_001272972.1:p.Asp241Val
NM_001286044.2:c.56A>T	NP_001272973.1:p.Asp19Val