Canonical Allele Identifier: CA2965114554
Community Standard Title: NM_004035.7(ACOX1):c.430+70C>A
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75960145G>T , CM000679.2:g.75960145G>T GRCh38
NC_000017.10:g.73956226G>T , CM000679.1:g.73956226G>T GRCh37
NC_000017.9:g.71467821G>T NCBI36
NG_008190.1:g.24219C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.430+70C>A MANE Select NP_004026.2:n.430+70C>A
ENST00000293217.10:c.430+70C>A MANE Select ENSP00000293217.4:n.430+70C>A
NM_001185039.1:c.316+70C>A NP_001171968.1:n.316+70C>A
NM_001185039.2:c.316+70C>A NP_001171968.1:n.316+70C>A
NM_004035.6:c.430+70C>A NP_004026.2:n.430+70C>A
NM_007292.5:c.431-2579C>A NP_009223.2:n.431-2579C>A
NM_007292.6:c.431-2579C>A NP_009223.2:n.431-2579C>A
ENST00000293217.9:c.430+70C>A ENSP00000293217.4:n.430+70C>A
ENST00000301608.8:c.431-2579C>A ENSP00000301608.4:n.431-2579C>A
ENST00000301608.9:c.431-2579C>A ENSP00000301608.4:n.431-2579C>A
ENST00000572047.5:c.604+70C>A ENSP00000459936.1:n.604+70C>A
ENST00000573078.5:c.591+70C>A ENSP00000458325.1:n.591+70C>A
ENST00000588176.5:c.431-4198C>A ENSP00000466210.1:n.431-4198C>A
ENST00000589301.1:c.*228-2579C>A ENSP00000468435.1:n.*228-2579C>A
ENST00000591857.5:n.448+70C>A
XM_011524868.1:c.226+70C>A XP_011523170.1:n.226+70C>A
XM_011524868.3:c.226+70C>A XP_011523170.1:n.226+70C>A
XM_011524869.1:c.23-2579C>A XP_011523171.1:n.23-2579C>A
XM_011524869.3:c.23-2579C>A XP_011523171.1:n.23-2579C>A