Canonical Allele Identifier: CA6774428

Gene: ACACB

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109237224T>C , CM000674.2:g.109237224T>C	GRCh38
NC_000012.11:g.109675029T>C , CM000674.1:g.109675029T>C	GRCh37
NC_000012.10:g.108159412T>C	NCBI36
NG_046907.1:g.131041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338432.12:c.4506T>C MANE Select	ENSP00000341044.7:p.Leu1502=
ENST00000338432.11:c.4506T>C	ENSP00000341044.7:p.Leu1502=
ENST00000377848.7:c.4506T>C	ENSP00000367079.3:p.Leu1502=
ENST00000377854.9:c.504T>C	ENSP00000367085.6:p.Leu168=
ENST00000538526.5:c.505T>C
NM_001093.3:c.4506T>C	NP_001084.3:p.Leu1502=
XM_005253876.3:c.4506T>C	XP_005253933.1:p.Leu1502=
XM_006719365.2:c.4506T>C	XP_006719428.1:p.Leu1502=
XM_006719367.2:c.3900T>C	XP_006719430.1:p.Leu1300=
XM_011538259.1:c.4506T>C	XP_011536561.1:p.Leu1502=
XM_011538260.1:c.4506T>C	XP_011536562.1:p.Leu1502=
XM_011538261.1:c.4506T>C	XP_011536563.1:p.Leu1502=
XM_011538262.1:c.4506T>C	XP_011536564.1:p.Leu1502=
XM_011538263.1:c.4317T>C	XP_011536565.1:p.Leu1439=
XM_011538264.1:c.3879T>C	XP_011536566.1:p.Leu1293=
XR_944530.1:n.5253T>C
XR_944531.1:n.5253T>C
XR_944532.1:n.5253T>C
XR_944533.1:n.5254T>C
XM_005253876.4:c.4506T>C	XP_005253933.1:p.Leu1502=
XM_006719367.4:c.3900T>C	XP_006719430.1:p.Leu1300=
XM_011538259.2:c.4506T>C	XP_011536561.1:p.Leu1502=
XM_011538263.3:c.4317T>C	XP_011536565.1:p.Leu1439=
XM_011538264.3:c.3879T>C	XP_011536566.1:p.Leu1293=
XM_017019252.2:c.3711T>C	XP_016874741.1:p.Leu1237=
XR_002957320.1:n.5264T>C
XR_002957321.1:n.5264T>C
XR_002957322.1:n.4151T>C
XR_944530.2:n.5264T>C
XR_944532.3:n.5264T>C
NM_001093.4:c.4506T>C MANE Select	NP_001084.3:p.Leu1502=