Canonical Allele Identifier: CA8777003
Community Standard Title: NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75957500T>C , CM000679.2:g.75957500T>C GRCh38
NC_000017.10:g.73953581T>C , CM000679.1:g.73953581T>C GRCh37
NC_000017.9:g.71465176T>C NCBI36
NG_008190.1:g.26864A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.497A>G MANE Select NP_004026.2:p.Asn166Ser
ENST00000293217.10:c.497A>G MANE Select ENSP00000293217.4:p.Asn166Ser
NM_001185039.1:c.383A>G NP_001171968.1:p.Asn128Ser
NM_001185039.2:c.383A>G NP_001171968.1:p.Asn128Ser
NM_004035.6:c.497A>G NP_004026.2:p.Asn166Ser
NM_007292.5:c.497A>G NP_009223.2:p.Asn166Ser
NM_007292.6:c.497A>G NP_009223.2:p.Asn166Ser
ENST00000293217.9:c.497A>G ENSP00000293217.4:p.Asn166Ser
ENST00000301608.8:c.497A>G ENSP00000301608.4:p.Asn166Ser
ENST00000301608.9:c.497A>G ENSP00000301608.4:p.Asn166Ser
ENST00000572047.5:c.671A>G ENSP00000459936.1:n.671A>G
ENST00000573078.5:c.658A>G ENSP00000458325.1:p.Thr220Ala
ENST00000588176.5:c.431-1553A>G ENSP00000466210.1:n.431-1553A>G
ENST00000591857.5:n.515A>G
XM_011524868.1:c.293A>G XP_011523170.1:p.Asn98Ser
XM_011524868.3:c.293A>G XP_011523170.1:p.Asn98Ser
XM_011524869.1:c.89A>G XP_011523171.1:p.Asn30Ser
XM_011524869.3:c.89A>G XP_011523171.1:p.Asn30Ser