Canonical Allele Identifier: CA1187699
Gene: ACKR1 HGNC NCBI
COSMIC:
COSM3750489 (not active)
COSM3750490 (not active)
MyVariant.info:
GRCh38 chr1:g.159205737G>A
GRCh37 chr1:g.159175527G>A
Revel Score:
ENST00000368122 (MANE Select) 0.127
ENST00000537147 0.127
ENST00000359381 0.127
ENST00000435307 0.127
ENST00000368121 0.127
gnomAD v2:
1:159175527 G / A
gnomAD v3:
1:159205737 G / A
gnomAD v4:
chr1-159205737-G-A
Joint Max Group AF 0.17425519 (NFE)
Genomes Max Group AF 0.16953289 (NFE)
Exomes Max Group AF 0.1744026 (NFE)
ClinVar RCV:
RCV003976636
ClinVar Variation:
3056036
dbSNP:
13962
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159205737G>A , CM000663.2:g.159205737G>A GRCh38
NC_000001.10:g.159175527G>A , CM000663.1:g.159175527G>A GRCh37
NC_000001.9:g.157442151G>A NCBI36
NG_011626.1:g.6018G>A
NG_011626.3:g.6725G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368121.6:c.304G>A ENSP00000357103.2:p.Ala102Thr
ENST00000368122.4:c.298G>A MANE Select ENSP00000357104.1:p.Ala100Thr
ENST00000435307.2:n.479G>A
ENST00000368121.3:c.304G>A ENSP00000357103.2:p.Ala102Thr
ENST00000368122.2:c.298G>A ENSP00000357104.1:p.Ala100Thr
ENST00000435307.1:c.304G>A ENSP00000398406.1:p.Ala102Thr
ENST00000537147.5:c.298G>A ENSP00000441985.1:p.Ala100Thr
NM_001122951.2:c.304G>A NP_001116423.1:p.Ala102Thr
NM_002036.3:c.298G>A NP_002027.2:p.Ala100Thr
NM_002036.4:c.298G>A MANE Select NP_002027.2:p.Ala100Thr
NM_001122951.3:c.304G>A NP_001116423.1:p.Ala102Thr
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