Canonical Allele Identifier: CA391732084
Gene: KNL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40621761T>A , CM000677.2:g.40621761T>A GRCh38
NC_000015.9:g.40913959T>A , CM000677.1:g.40913959T>A GRCh37
NC_000015.8:g.38701251T>A NCBI36
NG_033114.1:g.32513T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399668.7:c.1497T>A MANE Select ENSP00000382576.3:p.Phe499Leu
ENST00000346991.9:c.1575T>A ENSP00000335463.6:p.Phe525Leu
ENST00000399668.6:c.1497T>A ENSP00000382576.2:p.Phe499Leu
ENST00000527044.5:c.1497T>A ENSP00000432654.2:p.Phe499Leu
ENST00000533001.1:n.1642T>A
ENST00000534204.1:c.116-7563T>A ENSP00000453857.1:n.116-7563T>A
ENST00000614337.4:n.1813T>A
NM_144508.4:c.1497T>A NP_653091.3:p.Phe499Leu
NM_170589.4:c.1575T>A NP_733468.3:p.Phe525Leu
XM_011521816.1:c.1173T>A XP_011520118.1:p.Phe391Leu
XM_011521817.1:c.1497T>A XP_011520119.1:p.Phe499Leu
XM_017022432.1:c.1173T>A XP_016877921.1:p.Phe391Leu
NM_144508.5:c.1497T>A MANE Select NP_653091.3:p.Phe499Leu
NM_170589.5:c.1575T>A NP_733468.3:p.Phe525Leu