Canonical Allele Identifier: CA9852087
Gene: BPI HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.38309011C>G
GRCh37 chr20:g.36937413C>G
Revel Score:
ENST00000262865 0.064
gnomAD v2:
20:36937413 C / G
gnomAD v3:
20:38309011 C / G
gnomAD v4:
chr20-38309011-C-G
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar Allele:
2224146
ClinVar RCV:
RCV004096001
ClinVar Variation:
2233405
dbSNP:
148087853
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.38309011C>G , CM000682.2:g.38309011C>G GRCh38
NC_000020.10:g.36937413C>G , CM000682.1:g.36937413C>G GRCh37
NC_000020.9:g.36370827C>G NCBI36
NG_047016.1:g.9862C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262865.9:c.339C>G ENSP00000262865.4:p.Asn113Lys
ENST00000642449.2:c.327C>G MANE Select ENSP00000494528.2:p.Asn109Lys
ENST00000262865.8:c.339C>G ENSP00000262865.4:p.Asn113Lys
NM_001725.2:c.339C>G NP_001716.2:p.Asn113Lys
XM_005260522.2:c.339C>G XP_005260579.1:p.Asn113Lys
XR_430313.2:n.368C>G
XR_936707.1:n.135+8414G>C
XR_936708.1:n.135+8414G>C
NM_001725.3:c.327C>G MANE Select NP_001716.3:p.Asn109Lys
Search 100 bp 5'
Search 100 bp 3'