Canonical Allele Identifier: CA358944862
Gene: KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186236813A>C , CM000666.2:g.186236813A>C GRCh38
NC_000004.11:g.187157967A>C , CM000666.1:g.187157967A>C GRCh37
NC_000004.10:g.187394961A>C NCBI36
NG_012095.2:g.32835A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.361A>C MANE Select ENSP00000264690.6:p.Met121Leu
ENST00000264690.10:c.361A>C ENSP00000264690.6:p.Met121Leu
ENST00000428196.5:c.361A>C ENSP00000412366.1:p.Met121Leu
ENST00000446598.6:c.247A>C ENSP00000415563.2:p.Met83Leu
ENST00000511406.5:n.391A>C
ENST00000511608.5:c.504A>C
ENST00000513864.2:c.247A>C ENSP00000424469.2:p.Met83Leu
NM_000892.3:c.361A>C NP_000883.2:p.Met121Leu
XM_011531930.1:c.361A>C XP_011530232.1:p.Met121Leu
XM_011531931.1:c.361A>C XP_011530233.1:p.Met121Leu
XM_011531932.1:c.247A>C XP_011530234.1:p.Met83Leu
XM_011531933.1:c.247A>C XP_011530235.1:p.Met83Leu
XM_011531934.1:c.-277A>C XP_011530236.1:n.-277A>C
NM_000892.4:c.361A>C NP_000883.2:p.Met121Leu
NM_001318394.1:c.247A>C NP_001305323.1:p.Met83Leu
NM_001318396.1:c.-277A>C NP_001305325.1:n.-277A>C
XM_011531930.2:c.361A>C XP_011530232.1:p.Met121Leu
XM_017008181.1:c.361A>C XP_016863670.1:p.Met121Leu
XM_017008182.1:c.361A>C XP_016863671.1:p.Met121Leu
XM_017008183.1:c.361A>C XP_016863672.1:p.Met121Leu
NM_000892.5:c.361A>C MANE Select NP_000883.2:p.Met121Leu
NM_001318394.2:c.247A>C NP_001305323.1:p.Met83Leu
NM_001318396.2:c.-277A>C NP_001305325.1:n.-277A>C