Canonical Allele Identifier: CA8776765
Community Standard Title: NM_004035.7(ACOX1):c.1478+13T>C
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75949705A>G , CM000679.2:g.75949705A>G GRCh38
NC_000017.10:g.73945786A>G , CM000679.1:g.73945786A>G GRCh37
NC_000017.9:g.71457381A>G NCBI36
NG_008190.1:g.34659T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.1478+13T>C MANE Select NP_004026.2:n.1478+13T>C
ENST00000293217.10:c.1478+13T>C MANE Select ENSP00000293217.4:n.1478+13T>C
NM_001185039.1:c.1364+13T>C NP_001171968.1:n.1364+13T>C
NM_001185039.2:c.1364+13T>C NP_001171968.1:n.1364+13T>C
NM_004035.6:c.1478+13T>C NP_004026.2:n.1478+13T>C
NM_007292.5:c.1478+13T>C NP_009223.2:n.1478+13T>C
NM_007292.6:c.1478+13T>C NP_009223.2:n.1478+13T>C
ENST00000293217.9:c.1478+13T>C ENSP00000293217.4:n.1478+13T>C
ENST00000301608.8:c.1478+13T>C ENSP00000301608.4:n.1478+13T>C
ENST00000301608.9:c.1478+13T>C ENSP00000301608.4:n.1478+13T>C
ENST00000572047.5:c.1652+13T>C ENSP00000459936.1:n.1652+13T>C
ENST00000573078.5:c.*967+13T>C ENSP00000458325.1:n.*967+13T>C
XM_011524868.1:c.1274+13T>C XP_011523170.1:n.1274+13T>C
XM_011524868.3:c.1274+13T>C XP_011523170.1:n.1274+13T>C
XM_011524869.1:c.1070+13T>C XP_011523171.1:n.1070+13T>C
XM_011524869.3:c.1070+13T>C XP_011523171.1:n.1070+13T>C