Canonical Allele Identifier: CA401060885

Gene: ACOX1

Linked Data

• ClinVar Variation Id: 2680351
• ClinVar RCV Id: RCV003474458
• MyVariant Identifiers: chr17:g.73945824C>A (hg19) ; chr17:g.75949743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75949743C>A , CM000679.2:g.75949743C>A	GRCh38
NC_000017.10:g.73945824C>A , CM000679.1:g.73945824C>A	GRCh37
NC_000017.9:g.71457419C>A	NCBI36
NG_008190.1:g.34621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.1453G>T	ENSP00000301608.4:p.Glu485Ter
ENST00000293217.10:c.1453G>T MANE Select	ENSP00000293217.4:p.Glu485Ter
ENST00000293217.9:c.1453G>T	ENSP00000293217.4:p.Glu485Ter
ENST00000301608.8:c.1453G>T	ENSP00000301608.4:p.Glu485Ter
ENST00000572047.5:c.1627G>T	ENSP00000459936.1:n.1627G>T
ENST00000573078.5:c.*942G>T	ENSP00000458325.1:n.*942G>T
NM_001185039.1:c.1339G>T	NP_001171968.1:p.Glu447Ter
NM_004035.6:c.1453G>T	NP_004026.2:p.Glu485Ter
NM_007292.5:c.1453G>T	NP_009223.2:p.Glu485Ter
XM_011524868.1:c.1249G>T	XP_011523170.1:p.Glu417Ter
XM_011524869.1:c.1045G>T	XP_011523171.1:p.Glu349Ter
XM_011524868.3:c.1249G>T	XP_011523170.1:p.Glu417Ter
XM_011524869.3:c.1045G>T	XP_011523171.1:p.Glu349Ter
NM_004035.7:c.1453G>T MANE Select	NP_004026.2:p.Glu485Ter
NM_001185039.2:c.1339G>T	NP_001171968.1:p.Glu447Ter
NM_007292.6:c.1453G>T	NP_009223.2:p.Glu485Ter