Canonical Allele Identifier: CA358955135
Gene: KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186257290A>T , CM000666.2:g.186257290A>T GRCh38
NC_000004.11:g.187178444A>T , CM000666.1:g.187178444A>T GRCh37
NC_000004.10:g.187415438A>T NCBI36
NG_012095.2:g.53312A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264690.11:c.1650A>T MANE Select ENSP00000264690.6:p.Lys550Asn
ENST00000264690.10:c.1650A>T ENSP00000264690.6:p.Lys550Asn
ENST00000511406.5:n.1711A>T
ENST00000511608.5:c.1793A>T
ENST00000513864.2:c.1472-731A>T ENSP00000424469.2:n.1472-731A>T
NM_000892.3:c.1650A>T NP_000883.2:p.Lys550Asn
XM_011531930.1:c.1683A>T XP_011530232.1:p.Lys561Asn
XM_011531931.1:c.1683A>T XP_011530233.1:p.Lys561Asn
XM_011531932.1:c.1569A>T XP_011530234.1:p.Lys523Asn
XM_011531933.1:c.1569A>T XP_011530235.1:p.Lys523Asn
XM_011531934.1:c.1044A>T XP_011530236.1:p.Lys348Asn
NM_000892.4:c.1650A>T NP_000883.2:p.Lys550Asn
NM_001318394.1:c.1472-731A>T NP_001305323.1:n.1472-731A>T
NM_001318396.1:c.1044A>T NP_001305325.1:p.Lys348Asn
XM_011531930.2:c.1683A>T XP_011530232.1:p.Lys561Asn
XM_017008181.1:c.1683A>T XP_016863670.1:p.Lys561Asn
XM_017008182.1:c.1619-731A>T XP_016863671.1:n.1619-731A>T
XM_017008183.1:c.1586-731A>T XP_016863672.1:n.1586-731A>T
XM_017008184.1:c.1044A>T XP_016863673.1:p.Lys348Asn
NM_000892.5:c.1650A>T MANE Select NP_000883.2:p.Lys550Asn
NM_001318394.2:c.1472-731A>T NP_001305323.1:n.1472-731A>T
NM_001318396.2:c.1044A>T NP_001305325.1:p.Lys348Asn