Canonical Allele Identifier: CA386458999

Gene: ACACB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109139409G>A , CM000674.2:g.109139409G>A	GRCh38
NC_000012.11:g.109577214G>A , CM000674.1:g.109577214G>A	GRCh37
NC_000012.10:g.108061597G>A	NCBI36
NG_046907.1:g.33226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338432.12:c.4G>A MANE Select	ENSP00000341044.7:p.Val2Ile
ENST00000338432.11:c.4G>A	ENSP00000341044.7:p.Val2Ile
ENST00000377848.7:c.4G>A	ENSP00000367079.3:p.Val2Ile
ENST00000377854.9:c.-3999G>A	ENSP00000367085.6:n.-3999G>A
ENST00000539864.1:c.-72G>A	ENSP00000443494.1:n.-72G>A
NM_001093.3:c.4G>A	NP_001084.3:p.Val2Ile
XM_005253876.3:c.4G>A	XP_005253933.1:p.Val2Ile
XM_006719365.2:c.4G>A	XP_006719428.1:p.Val2Ile
XM_011538259.1:c.4G>A	XP_011536561.1:p.Val2Ile
XM_011538260.1:c.4G>A	XP_011536562.1:p.Val2Ile
XM_011538261.1:c.4G>A	XP_011536563.1:p.Val2Ile
XM_011538262.1:c.4G>A	XP_011536564.1:p.Val2Ile
XM_011538263.1:c.4G>A	XP_011536565.1:p.Val2Ile
XM_011538264.1:c.26+25994G>A	XP_011536566.1:n.26+25994G>A
XM_011538265.1:c.4G>A	XP_011536567.1:p.Val2Ile
XR_944530.1:n.751G>A
XR_944531.1:n.751G>A
XR_944532.1:n.751G>A
XR_944533.1:n.752G>A
XM_005253876.4:c.4G>A	XP_005253933.1:p.Val2Ile
XM_011538259.2:c.4G>A	XP_011536561.1:p.Val2Ile
XM_011538263.3:c.4G>A	XP_011536565.1:p.Val2Ile
XM_011538264.3:c.26+25994G>A	XP_011536566.1:n.26+25994G>A
XM_011538265.2:c.4G>A	XP_011536567.1:p.Val2Ile
XR_002957320.1:n.762G>A
XR_002957321.1:n.762G>A
XR_944530.2:n.762G>A
XR_944532.3:n.762G>A
NM_001093.4:c.4G>A MANE Select	NP_001084.3:p.Val2Ile