Canonical Allele Identifier: CA10640638

Gene: ACOX1

Linked Data

• ClinVar Variation Id: 325329
• ClinVar RCV Id: RCV000367354
• dbSNP Id: rs9915973
• gnomAD v2: 17-73940058-T-G
• gnomAD v3: 17-75943977-T-G
• gnomAD v4: 17-75943977-T-G
• MyVariant Identifiers: chr17:g.73940058T>G (hg19) ; chr17:g.75943977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75943977T>G , CM000679.2:g.75943977T>G	GRCh38
NC_000017.10:g.73940058T>G , CM000679.1:g.73940058T>G	GRCh37
NC_000017.9:g.71451653T>G	NCBI36
NG_008190.1:g.40387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.*2771A>C	ENSP00000301608.4:n.*2771A>C
ENST00000293217.10:c.*2771A>C MANE Select	ENSP00000293217.4:n.*2771A>C
ENST00000293217.9:c.*2771A>C	ENSP00000293217.4:n.*2771A>C
ENST00000587927.5:c.440-764A>C
ENST00000588968.5:c.390-1065A>C
NM_001185039.1:c.*2771A>C	NP_001171968.1:n.*2771A>C
NM_004035.6:c.*2771A>C	NP_004026.2:n.*2771A>C
NM_007292.5:c.*2771A>C	NP_009223.2:n.*2771A>C
XM_011524868.3:c.*2771A>C	XP_011523170.1:n.*2771A>C
XM_011524869.3:c.*2771A>C	XP_011523171.1:n.*2771A>C
NM_004035.7:c.*2771A>C MANE Select	NP_004026.2:n.*2771A>C
NM_001185039.2:c.*2771A>C	NP_001171968.1:n.*2771A>C
NM_007292.6:c.*2771A>C	NP_009223.2:n.*2771A>C