Canonical Allele Identifier: CA8776896
Community Standard Title: NM_004035.7(ACOX1):c.909C>G (p.Tyr303Ter)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953486G>C , CM000679.2:g.75953486G>C GRCh38
NC_000017.10:g.73949567G>C , CM000679.1:g.73949567G>C GRCh37
NC_000017.9:g.71461162G>C NCBI36
NG_008190.1:g.30878C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.909C>G MANE Select NP_004026.2:p.Tyr303Ter
ENST00000293217.10:c.909C>G MANE Select ENSP00000293217.4:p.Tyr303Ter
NM_001185039.1:c.795C>G NP_001171968.1:p.Tyr265Ter
NM_001185039.2:c.795C>G NP_001171968.1:p.Tyr265Ter
NM_004035.6:c.909C>G NP_004026.2:p.Tyr303Ter
NM_007292.5:c.909C>G NP_009223.2:p.Tyr303Ter
NM_007292.6:c.909C>G NP_009223.2:p.Tyr303Ter
ENST00000293217.9:c.909C>G ENSP00000293217.4:p.Tyr303Ter
ENST00000301608.8:c.909C>G ENSP00000301608.4:p.Tyr303Ter
ENST00000301608.9:c.909C>G ENSP00000301608.4:p.Tyr303Ter
ENST00000572047.5:c.1083C>G ENSP00000459936.1:n.1083C>G
ENST00000573078.5:c.*398C>G ENSP00000458325.1:n.*398C>G
ENST00000589744.1:n.159C>G
XM_011524868.1:c.705C>G XP_011523170.1:p.Tyr235Ter
XM_011524868.3:c.705C>G XP_011523170.1:p.Tyr235Ter
XM_011524869.1:c.501C>G XP_011523171.1:p.Tyr167Ter
XM_011524869.3:c.501C>G XP_011523171.1:p.Tyr167Ter