Canonical Allele Identifier: CA358955127
Gene: KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186257289A>C , CM000666.2:g.186257289A>C GRCh38
NC_000004.11:g.187178443A>C , CM000666.1:g.187178443A>C GRCh37
NC_000004.10:g.187415437A>C NCBI36
NG_012095.2:g.53311A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.1649A>C MANE Select ENSP00000264690.6:p.Lys550Thr
ENST00000264690.10:c.1649A>C ENSP00000264690.6:p.Lys550Thr
ENST00000511406.5:n.1710A>C
ENST00000511608.5:c.1792A>C
ENST00000513864.2:c.1472-732A>C ENSP00000424469.2:n.1472-732A>C
NM_000892.3:c.1649A>C NP_000883.2:p.Lys550Thr
XM_011531930.1:c.1682A>C XP_011530232.1:p.Lys561Thr
XM_011531931.1:c.1682A>C XP_011530233.1:p.Lys561Thr
XM_011531932.1:c.1568A>C XP_011530234.1:p.Lys523Thr
XM_011531933.1:c.1568A>C XP_011530235.1:p.Lys523Thr
XM_011531934.1:c.1043A>C XP_011530236.1:p.Lys348Thr
NM_000892.4:c.1649A>C NP_000883.2:p.Lys550Thr
NM_001318394.1:c.1472-732A>C NP_001305323.1:n.1472-732A>C
NM_001318396.1:c.1043A>C NP_001305325.1:p.Lys348Thr
XM_011531930.2:c.1682A>C XP_011530232.1:p.Lys561Thr
XM_017008181.1:c.1682A>C XP_016863670.1:p.Lys561Thr
XM_017008182.1:c.1619-732A>C XP_016863671.1:n.1619-732A>C
XM_017008183.1:c.1586-732A>C XP_016863672.1:n.1586-732A>C
XM_017008184.1:c.1043A>C XP_016863673.1:p.Lys348Thr
NM_000892.5:c.1649A>C MANE Select NP_000883.2:p.Lys550Thr
NM_001318394.2:c.1472-732A>C NP_001305323.1:n.1472-732A>C
NM_001318396.2:c.1043A>C NP_001305325.1:p.Lys348Thr