Canonical Allele Identifier: CA309808554
Gene: FPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2172572
ClinVar RCV Id: RCV003090594
dbSNP Id: rs547228145
gnomAD v2: 19-52249899-C-T
gnomAD v3: 19-51746646-C-T
gnomAD v4: 19-51746646-C-T
COSMIC: COSM475129
MyVariant Identifiers: chr19:g.52249899C>T (hg19) chr19:g.51746646C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51746646C>T , CM000681.2:g.51746646C>T GRCh38
NC_000019.9:g.52249899C>T , CM000681.1:g.52249899C>T GRCh37
NC_000019.8:g.56941711C>T NCBI36
NG_023426.1:g.10252G>A , LRG_146:g.10252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000594900.2:c.349G>A ENSP00000470750.2:p.Ala117Thr
ENST00000600815.2:c.349G>A ENSP00000472936.2:p.Ala117Thr
ENST00000304748.5:c.349G>A MANE Select ENSP00000302707.3:p.Ala117Thr
ENST00000304748.4:c.349G>A ENSP00000302707.3:p.Ala117Thr
ENST00000595042.5:c.349G>A ENSP00000471493.1:p.Ala117Thr
ENST00000600815.1:c.349G>A ENSP00000472936.1:p.Ala117Thr
NM_001193306.1:c.349G>A NP_001180235.1:p.Ala117Thr
NM_002029.3:c.349G>A , LRG_146t1:c.349G>A NP_002020.1:p.Ala117Thr
NM_001193306.2:c.349G>A NP_001180235.1:p.Ala117Thr
NM_002029.4:c.349G>A MANE Select NP_002020.1:p.Ala117Thr
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