Canonical Allele Identifier: CA121831
Gene: KLKB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12035
dbSNP Id: rs121964951

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186257283G>A , CM000666.2:g.186257283G>A GRCh38
NC_000004.11:g.187178437G>A , CM000666.1:g.187178437G>A GRCh37
NC_000004.10:g.187415431G>A NCBI36
NG_012095.2:g.53305G>A

Transcript Alleles

HGVS Amino-acid change
NM_000892.3:c.1643G>A VV NP_000883.2:p.Cys548Tyr
XM_011531930.1:c.1676G>A XP_011530232.1:p.Cys559Tyr
XM_011531931.1:c.1676G>A XP_011530233.1:p.Cys559Tyr
XM_011531932.1:c.1562G>A XP_011530234.1:p.Cys521Tyr
XM_011531933.1:c.1562G>A XP_011530235.1:p.Cys521Tyr
XM_011531934.1:c.1037G>A XP_011530236.1:p.Cys346Tyr
NM_000892.4:c.1643G>A VV
NM_001318394.1:c.1472-738G>A VV NP_001305323.1:p.=
NM_001318396.1:c.1037G>A VV NP_001305325.1:p.Cys346Tyr
XM_011531930.2:c.1676G>A
XM_017008181.1:c.1676G>A XP_016863670.1:p.Cys559Tyr
XM_017008182.1:c.1619-738G>A XP_016863671.1:p.=
XM_017008183.1:c.1586-738G>A XP_016863672.1:p.=
XM_017008184.1:c.1037G>A XP_016863673.1:p.Cys346Tyr
NM_000892.5:c.1643G>A VV MANE Preferred
ENST00000264690.10:c.1643G>A ENSP00000264690.6:p.Cys548Tyr
ENST00000511406.5:n.1704G>A
ENST00000511608.5:n.1786G>A
ENST00000513864.2:c.1472-738G>A ENSP00000424469.2:p.=