Canonical Allele Identifier: CA115025
Gene: ACOX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499
ClinVar RCV Id: RCV000001564
dbSNP Id: rs118204090
MyVariant Identifiers: chr17:g.73949644T>C (hg19) chr17:g.75953563T>C (hg38)
PubMed: PMID:8279468 PMID:11815777
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953563T>C , CM000679.2:g.75953563T>C GRCh38
NC_000017.10:g.73949644T>C , CM000679.1:g.73949644T>C GRCh37
NC_000017.9:g.71461239T>C NCBI36
NG_008190.1:g.30801A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301608.9:c.832A>G ENSP00000301608.4:p.Met278Val
ENST00000293217.10:c.832A>G MANE Select ENSP00000293217.4:p.Met278Val
ENST00000293217.9:c.832A>G ENSP00000293217.4:p.Met278Val
ENST00000301608.8:c.832A>G ENSP00000301608.4:p.Met278Val
ENST00000572047.5:c.1006A>G ENSP00000459936.1:n.1006A>G
ENST00000573078.5:c.*321A>G ENSP00000458325.1:n.*321A>G
ENST00000589744.1:n.82A>G
NM_001185039.1:c.718A>G NP_001171968.1:p.Met240Val
NM_004035.6:c.832A>G NP_004026.2:p.Met278Val
NM_007292.5:c.832A>G NP_009223.2:p.Met278Val
XM_011524868.1:c.628A>G XP_011523170.1:p.Met210Val
XM_011524869.1:c.424A>G XP_011523171.1:p.Met142Val
XM_011524868.3:c.628A>G XP_011523170.1:p.Met210Val
XM_011524869.3:c.424A>G XP_011523171.1:p.Met142Val
NM_004035.7:c.832A>G MANE Select NP_004026.2:p.Met278Val
NM_001185039.2:c.718A>G NP_001171968.1:p.Met240Val
NM_007292.6:c.832A>G NP_009223.2:p.Met278Val
Search 100 bp 5'
Search 100 bp 3'