Canonical Allele Identifier: CA9616539
Gene: FPR1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51746963A>G
GRCh37 chr19:g.52250216A>G
Revel Score:
ENST00000304748 (MANE Select) 0.030
gnomAD v2:
19:52250216 A / G
gnomAD v3:
19:51746963 A / G
gnomAD v4:
chr19-51746963-A-G
Joint Max Group AF 0.96170447 (EAS)
Genomes Max Group AF 0.94189284 (EAS)
Exomes Max Group AF 0.96187847 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51746963A>G , CM000681.2:g.51746963A>G GRCh38
NC_000019.9:g.52250216A>G , CM000681.1:g.52250216A>G GRCh37
NC_000019.8:g.56942028A>G NCBI36
NG_023426.1:g.9935T>C , LRG_146:g.9935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000594900.2:c.32T>C ENSP00000470750.2:p.Ile11Thr
ENST00000600815.2:c.32T>C ENSP00000472936.2:p.Ile11Thr
ENST00000304748.5:c.32T>C MANE Select ENSP00000302707.3:p.Ile11Thr
ENST00000304748.4:c.32T>C ENSP00000302707.3:p.Ile11Thr
ENST00000594900.1:c.32T>C ENSP00000470750.1:p.Ile11Thr
ENST00000595042.5:c.32T>C ENSP00000471493.1:p.Ile11Thr
ENST00000600815.1:c.32T>C ENSP00000472936.1:p.Ile11Thr
NM_001193306.1:c.32T>C NP_001180235.1:p.Ile11Thr
NM_002029.3:c.32T>C , LRG_146t1:c.32T>C NP_002020.1:p.Ile11Thr
NM_001193306.2:c.32T>C NP_001180235.1:p.Ile11Thr
NM_002029.4:c.32T>C MANE Select NP_002020.1:p.Ile11Thr
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