Canonical Allele Identifier: CA8776891
Community Standard Title: NM_004035.7(ACOX1):c.928T>C (p.Ser310Pro)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953467A>G , CM000679.2:g.75953467A>G GRCh38
NC_000017.10:g.73949548A>G , CM000679.1:g.73949548A>G GRCh37
NC_000017.9:g.71461143A>G NCBI36
NG_008190.1:g.30897T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.928T>C MANE Select NP_004026.2:p.Ser310Pro
ENST00000293217.10:c.928T>C MANE Select ENSP00000293217.4:p.Ser310Pro
NM_001185039.1:c.814T>C NP_001171968.1:p.Ser272Pro
NM_001185039.2:c.814T>C NP_001171968.1:p.Ser272Pro
NM_004035.6:c.928T>C NP_004026.2:p.Ser310Pro
NM_007292.5:c.928T>C NP_009223.2:p.Ser310Pro
NM_007292.6:c.928T>C NP_009223.2:p.Ser310Pro
ENST00000293217.9:c.928T>C ENSP00000293217.4:p.Ser310Pro
ENST00000301608.8:c.928T>C ENSP00000301608.4:p.Ser310Pro
ENST00000301608.9:c.928T>C ENSP00000301608.4:p.Ser310Pro
ENST00000572047.5:c.1102T>C ENSP00000459936.1:n.1102T>C
ENST00000573078.5:c.*417T>C ENSP00000458325.1:n.*417T>C
ENST00000589744.1:n.178T>C
XM_011524868.1:c.724T>C XP_011523170.1:p.Ser242Pro
XM_011524868.3:c.724T>C XP_011523170.1:p.Ser242Pro
XM_011524869.1:c.520T>C XP_011523171.1:p.Ser174Pro
XM_011524869.3:c.520T>C XP_011523171.1:p.Ser174Pro