Canonical Allele Identifier: CA501855986

Gene: ACOX1

Linked Data

• ClinVar Variation Id: 2974922
• ClinVar RCV Id: RCV003838544
• gnomAD v4: 17-75953477-C-A
• MyVariant Identifiers: chr17:g.73949558C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953477C>A , CM000679.2:g.75953477C>A	GRCh38
NC_000017.10:g.73949558C>A , CM000679.1:g.73949558C>A	GRCh37
NC_000017.9:g.71461153C>A	NCBI36
NG_008190.1:g.30887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.918G>T	ENSP00000301608.4:p.Val306=
ENST00000293217.10:c.918G>T MANE Select	ENSP00000293217.4:p.Val306=
ENST00000293217.9:c.918G>T	ENSP00000293217.4:p.Val306=
ENST00000301608.8:c.918G>T	ENSP00000301608.4:p.Val306=
ENST00000572047.5:c.1092G>T	ENSP00000459936.1:n.1092G>T
ENST00000573078.5:c.*407G>T	ENSP00000458325.1:n.*407G>T
ENST00000589744.1:n.168G>T
NM_001185039.1:c.804G>T	NP_001171968.1:p.Val268=
NM_004035.6:c.918G>T	NP_004026.2:p.Val306=
NM_007292.5:c.918G>T	NP_009223.2:p.Val306=
XM_011524868.1:c.714G>T	XP_011523170.1:p.Val238=
XM_011524869.1:c.510G>T	XP_011523171.1:p.Val170=
XM_011524868.3:c.714G>T	XP_011523170.1:p.Val238=
XM_011524869.3:c.510G>T	XP_011523171.1:p.Val170=
NM_004035.7:c.918G>T MANE Select	NP_004026.2:p.Val306=
NM_001185039.2:c.804G>T	NP_001171968.1:p.Val268=
NM_007292.6:c.918G>T	NP_009223.2:p.Val306=