Canonical Allele Identifier: CA8777002
Community Standard Title: NM_004035.7(ACOX1):c.510G>A (p.Val170=)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75957487C>T , CM000679.2:g.75957487C>T GRCh38
NC_000017.10:g.73953568C>T , CM000679.1:g.73953568C>T GRCh37
NC_000017.9:g.71465163C>T NCBI36
NG_008190.1:g.26877G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.510G>A MANE Select NP_004026.2:p.Val170=
ENST00000293217.10:c.510G>A MANE Select ENSP00000293217.4:p.Val170=
NM_001185039.1:c.396G>A NP_001171968.1:p.Val132=
NM_001185039.2:c.396G>A NP_001171968.1:p.Val132=
NM_004035.6:c.510G>A NP_004026.2:p.Val170=
NM_007292.5:c.510G>A NP_009223.2:p.Val170=
NM_007292.6:c.510G>A NP_009223.2:p.Val170=
ENST00000293217.9:c.510G>A ENSP00000293217.4:p.Val170=
ENST00000301608.8:c.510G>A ENSP00000301608.4:p.Val170=
ENST00000301608.9:c.510G>A ENSP00000301608.4:p.Val170=
ENST00000572047.5:c.684G>A ENSP00000459936.1:n.684G>A
ENST00000573078.5:c.671G>A ENSP00000458325.1:p.Ter224=
ENST00000588176.5:c.431-1540G>A ENSP00000466210.1:n.431-1540G>A
ENST00000591857.5:n.528G>A
XM_011524868.1:c.306G>A XP_011523170.1:p.Val102=
XM_011524868.3:c.306G>A XP_011523170.1:p.Val102=
XM_011524869.1:c.102G>A XP_011523171.1:p.Val34=
XM_011524869.3:c.102G>A XP_011523171.1:p.Val34=