Canonical Allele Identifier: CA358955199
Gene: KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186257300G>A , CM000666.2:g.186257300G>A GRCh38
NC_000004.11:g.187178454G>A , CM000666.1:g.187178454G>A GRCh37
NC_000004.10:g.187415448G>A NCBI36
NG_012095.2:g.53322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.1660G>A MANE Select ENSP00000264690.6:p.Asp554Asn
ENST00000264690.10:c.1660G>A ENSP00000264690.6:p.Asp554Asn
ENST00000511406.5:n.1721G>A
ENST00000511608.5:c.1803G>A
ENST00000513864.2:c.1472-721G>A ENSP00000424469.2:n.1472-721G>A
NM_000892.3:c.1660G>A NP_000883.2:p.Asp554Asn
XM_011531930.1:c.1693G>A XP_011530232.1:p.Asp565Asn
XM_011531931.1:c.1693G>A XP_011530233.1:p.Asp565Asn
XM_011531932.1:c.1579G>A XP_011530234.1:p.Asp527Asn
XM_011531933.1:c.1579G>A XP_011530235.1:p.Asp527Asn
XM_011531934.1:c.1054G>A XP_011530236.1:p.Asp352Asn
NM_000892.4:c.1660G>A NP_000883.2:p.Asp554Asn
NM_001318394.1:c.1472-721G>A NP_001305323.1:n.1472-721G>A
NM_001318396.1:c.1054G>A NP_001305325.1:p.Asp352Asn
XM_011531930.2:c.1693G>A XP_011530232.1:p.Asp565Asn
XM_017008181.1:c.1693G>A XP_016863670.1:p.Asp565Asn
XM_017008182.1:c.1619-721G>A XP_016863671.1:n.1619-721G>A
XM_017008183.1:c.1586-721G>A XP_016863672.1:n.1586-721G>A
XM_017008184.1:c.1054G>A XP_016863673.1:p.Asp352Asn
NM_000892.5:c.1660G>A MANE Select NP_000883.2:p.Asp554Asn
NM_001318394.2:c.1472-721G>A NP_001305323.1:n.1472-721G>A
NM_001318396.2:c.1054G>A NP_001305325.1:p.Asp352Asn