Canonical Allele Identifier: CA6774391
Community Standard Title: NM_001093.4(ACACB):c.4442A>T (p.Asp1481Val)
Gene: ACACB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109235643A>T , CM000674.2:g.109235643A>T GRCh38
NC_000012.11:g.109673448A>T , CM000674.1:g.109673448A>T GRCh37
NC_000012.10:g.108157831A>T NCBI36
NG_046907.1:g.129460A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001093.4:c.4442A>T MANE Select NP_001084.3:p.Asp1481Val
ENST00000338432.12:c.4442A>T MANE Select ENSP00000341044.7:p.Asp1481Val
NM_001093.3:c.4442A>T NP_001084.3:p.Asp1481Val
ENST00000338432.11:c.4442A>T ENSP00000341044.7:p.Asp1481Val
ENST00000377848.7:c.4442A>T ENSP00000367079.3:p.Asp1481Val
ENST00000377854.9:c.440A>T ENSP00000367085.6:p.Asp147Val
ENST00000538526.5:c.441A>T
ENST00000542524.1:n.101A>T
XM_005253876.3:c.4442A>T XP_005253933.1:p.Asp1481Val
XM_005253876.4:c.4442A>T XP_005253933.1:p.Asp1481Val
XM_006719365.2:c.4442A>T XP_006719428.1:p.Asp1481Val
XM_006719367.2:c.3836A>T XP_006719430.1:p.Asp1279Val
XM_006719367.4:c.3836A>T XP_006719430.1:p.Asp1279Val
XM_011538259.1:c.4442A>T XP_011536561.1:p.Asp1481Val
XM_011538259.2:c.4442A>T XP_011536561.1:p.Asp1481Val
XM_011538260.1:c.4442A>T XP_011536562.1:p.Asp1481Val
XM_011538261.1:c.4442A>T XP_011536563.1:p.Asp1481Val
XM_011538262.1:c.4442A>T XP_011536564.1:p.Asp1481Val
XM_011538263.1:c.4253A>T XP_011536565.1:p.Asp1418Val
XM_011538263.3:c.4253A>T XP_011536565.1:p.Asp1418Val
XM_011538264.1:c.3815A>T XP_011536566.1:p.Asp1272Val
XM_011538264.3:c.3815A>T XP_011536566.1:p.Asp1272Val
XM_017019252.2:c.3647A>T XP_016874741.1:p.Asp1216Val
XR_002957320.1:n.5200A>T
XR_002957321.1:n.5200A>T
XR_002957322.1:n.4087A>T
XR_944530.1:n.5189A>T
XR_944530.2:n.5200A>T
XR_944531.1:n.5189A>T
XR_944532.1:n.5189A>T
XR_944532.3:n.5200A>T
XR_944533.1:n.5190A>T