Canonical Allele Identifier: CA1519924970
Community Standard Title: NM_000892.5(KLKB1):c.1643G= (p.Cys548=)
Gene: KLKB1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000892.5:c.1643G= MANE Select NP_000883.2:p.Cys548=
ENST00000264690.11:c.1643G= MANE Select ENSP00000264690.6:p.Cys548=
NM_000892.3:c.1643G= NP_000883.2:p.Cys548=
NM_000892.4:c.1643G= NP_000883.2:p.Cys548=
NM_001318394.1:c.1472-738G= NP_001305323.1:n.1472-738G=
NM_001318394.2:c.1472-738G= NP_001305323.1:n.1472-738G=
NM_001318396.1:c.1037G= NP_001305325.1:p.Cys346=
NM_001318396.2:c.1037G= NP_001305325.1:p.Cys346=
ENST00000264690.10:c.1643G= ENSP00000264690.6:p.Cys548=
ENST00000511406.5:n.1704G=
ENST00000511608.5:c.1786G=
ENST00000513864.2:c.1472-738G= ENSP00000424469.2:n.1472-738G=
XM_011531930.1:c.1676G= XP_011530232.1:p.Cys559=
XM_011531930.2:c.1676G= XP_011530232.1:p.Cys559=
XM_011531931.1:c.1676G= XP_011530233.1:p.Cys559=
XM_011531932.1:c.1562G= XP_011530234.1:p.Cys521=
XM_011531933.1:c.1562G= XP_011530235.1:p.Cys521=
XM_011531934.1:c.1037G= XP_011530236.1:p.Cys346=
XM_017008181.1:c.1676G= XP_016863670.1:p.Cys559=
XM_017008182.1:c.1619-738G= XP_016863671.1:n.1619-738G=
XM_017008183.1:c.1586-738G= XP_016863672.1:n.1586-738G=
XM_017008184.1:c.1037G= XP_016863673.1:p.Cys346=