Canonical Allele Identifier: CA9616428
Gene: FPR1 HGNC NCBI
COSMIC:
COSM4000855 (not active)
MyVariant.info:
GRCh38 chr19:g.51746419A>C
GRCh37 chr19:g.52249672A>C
Revel Score:
ENST00000304748 (MANE Select) 0.044
gnomAD v2:
19:52249672 A / C
gnomAD v3:
19:51746419 A / C
gnomAD v4:
chr19-51746419-A-C
Joint Max Group AF 0.46185146 (AFR)
Genomes Max Group AF 0.45542683 (AFR)
Exomes Max Group AF 0.46603119 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51746419A>C , CM000681.2:g.51746419A>C GRCh38
NC_000019.9:g.52249672A>C , CM000681.1:g.52249672A>C GRCh37
NC_000019.8:g.56941484A>C NCBI36
NG_023426.1:g.10479T>G , LRG_146:g.10479T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000594900.2:c.576T>G ENSP00000470750.2:p.Asn192Lys
ENST00000600815.2:c.576T>G ENSP00000472936.2:p.Asn192Lys
ENST00000304748.5:c.576T>G MANE Select ENSP00000302707.3:p.Asn192Lys
ENST00000304748.4:c.576T>G ENSP00000302707.3:p.Asn192Lys
ENST00000595042.5:c.576T>G ENSP00000471493.1:p.Asn192Lys
NM_001193306.1:c.576T>G NP_001180235.1:p.Asn192Lys
NM_002029.3:c.576T>G , LRG_146t1:c.576T>G NP_002020.1:p.Asn192Lys
NM_001193306.2:c.576T>G NP_001180235.1:p.Asn192Lys
NM_002029.4:c.576T>G MANE Select NP_002020.1:p.Asn192Lys
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