Canonical Allele Identifier: CA401068762
Community Standard Title: NM_004035.7(ACOX1):c.538+1G>A
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75957458C>T , CM000679.2:g.75957458C>T GRCh38
NC_000017.10:g.73953539C>T , CM000679.1:g.73953539C>T GRCh37
NC_000017.9:g.71465134C>T NCBI36
NG_008190.1:g.26906G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.538+1G>A MANE Select NP_004026.2:n.538+1G>A
ENST00000293217.10:c.538+1G>A MANE Select ENSP00000293217.4:n.538+1G>A
NM_001185039.1:c.424+1G>A NP_001171968.1:n.424+1G>A
NM_001185039.2:c.424+1G>A NP_001171968.1:n.424+1G>A
NM_004035.6:c.538+1G>A NP_004026.2:n.538+1G>A
NM_007292.5:c.538+1G>A NP_009223.2:n.538+1G>A
NM_007292.6:c.538+1G>A NP_009223.2:n.538+1G>A
ENST00000293217.9:c.538+1G>A ENSP00000293217.4:n.538+1G>A
ENST00000301608.8:c.538+1G>A ENSP00000301608.4:n.538+1G>A
ENST00000301608.9:c.538+1G>A ENSP00000301608.4:n.538+1G>A
ENST00000572047.5:c.712+1G>A ENSP00000459936.1:n.712+1G>A
ENST00000573078.5:c.*27+1G>A ENSP00000458325.1:n.*27+1G>A
ENST00000588176.5:c.431-1511G>A ENSP00000466210.1:n.431-1511G>A
ENST00000591857.5:n.557G>A
XM_011524868.1:c.334+1G>A XP_011523170.1:n.334+1G>A
XM_011524868.3:c.334+1G>A XP_011523170.1:n.334+1G>A
XM_011524869.1:c.130+1G>A XP_011523171.1:n.130+1G>A
XM_011524869.3:c.130+1G>A XP_011523171.1:n.130+1G>A