Canonical Allele Identifier: CA8776894

Gene: ACOX1

Linked Data

• dbSNP Id: rs760485833
• ExAC: 17:73949561 A / G
• gnomAD v2: 17-73949561-A-G
• gnomAD v4: 17-75953480-A-G
• MyVariant Identifiers: chr17:g.73949561A>G (hg19) ; chr17:g.75953480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953480A>G , CM000679.2:g.75953480A>G	GRCh38
NC_000017.10:g.73949561A>G , CM000679.1:g.73949561A>G	GRCh37
NC_000017.9:g.71461156A>G	NCBI36
NG_008190.1:g.30884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.915T>C	ENSP00000301608.4:p.Ala305=
ENST00000293217.10:c.915T>C MANE Select	ENSP00000293217.4:p.Ala305=
ENST00000293217.9:c.915T>C	ENSP00000293217.4:p.Ala305=
ENST00000301608.8:c.915T>C	ENSP00000301608.4:p.Ala305=
ENST00000572047.5:c.1089T>C	ENSP00000459936.1:n.1089T>C
ENST00000573078.5:c.*404T>C	ENSP00000458325.1:n.*404T>C
ENST00000589744.1:n.165T>C
NM_001185039.1:c.801T>C	NP_001171968.1:p.Ala267=
NM_004035.6:c.915T>C	NP_004026.2:p.Ala305=
NM_007292.5:c.915T>C	NP_009223.2:p.Ala305=
XM_011524868.1:c.711T>C	XP_011523170.1:p.Ala237=
XM_011524869.1:c.507T>C	XP_011523171.1:p.Ala169=
XM_011524868.3:c.711T>C	XP_011523170.1:p.Ala237=
XM_011524869.3:c.507T>C	XP_011523171.1:p.Ala169=
NM_004035.7:c.915T>C MANE Select	NP_004026.2:p.Ala305=
NM_001185039.2:c.801T>C	NP_001171968.1:p.Ala267=
NM_007292.6:c.915T>C	NP_009223.2:p.Ala305=