Canonical Allele Identifier: CA113785

Gene: ACKR1

Linked Data

• ClinVar Variation Id: 17728
• ClinVar RCV Id: RCV000000005 ; RCV000825065 ; RCV003974842
• dbSNP Id: rs12075
• ExAC: 1:159175354 G / A
• gnomAD v2: 1-159175354-G-A
• gnomAD v3: 1-159205564-G-A
• gnomAD v4: 1-159205564-G-A
• MyVariant Identifiers: chr1:g.159175354G>A (hg19) ; chr1:g.159205564G>A (hg38)
• PubMed: PMID:7669660 ; PMID:7705836 ; PMID:8547665 ; PMID:10791881

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159205564G>A , CM000663.2:g.159205564G>A	GRCh38
NC_000001.10:g.159175354G>A , CM000663.1:g.159175354G>A	GRCh37
NC_000001.9:g.157441978G>A	NCBI36
NG_011626.1:g.5845G>A
NG_011626.3:g.6552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368121.6:c.131G>A	ENSP00000357103.2:p.Gly44Asp
ENST00000368122.4:c.125G>A MANE Select	ENSP00000357104.1:p.Gly42Asp
ENST00000435307.2:n.306G>A
ENST00000368121.3:c.131G>A	ENSP00000357103.2:p.Gly44Asp
ENST00000368122.2:c.125G>A	ENSP00000357104.1:p.Gly42Asp
ENST00000435307.1:c.131G>A	ENSP00000398406.1:p.Gly44Asp
ENST00000537147.5:c.125G>A	ENSP00000441985.1:p.Gly42Asp
NM_001122951.2:c.131G>A	NP_001116423.1:p.Gly44Asp
NM_002036.3:c.125G>A	NP_002027.2:p.Gly42Asp
NM_002036.4:c.125G>A MANE Select	NP_002027.2:p.Gly42Asp
NM_001122951.3:c.131G>A	NP_001116423.1:p.Gly44Asp