Canonical Allele Identifier: CA391732268
Gene: KNL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40621786A>T , CM000677.2:g.40621786A>T GRCh38
NC_000015.9:g.40913984A>T , CM000677.1:g.40913984A>T GRCh37
NC_000015.8:g.38701276A>T NCBI36
NG_033114.1:g.32538A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399668.7:c.1522A>T MANE Select ENSP00000382576.3:p.Ile508Leu
ENST00000346991.9:c.1600A>T ENSP00000335463.6:p.Ile534Leu
ENST00000399668.6:c.1522A>T ENSP00000382576.2:p.Ile508Leu
ENST00000527044.5:c.1522A>T ENSP00000432654.2:p.Ile508Leu
ENST00000533001.1:n.1667A>T
ENST00000534204.1:c.116-7538A>T ENSP00000453857.1:n.116-7538A>T
ENST00000614337.4:n.1838A>T
NM_144508.4:c.1522A>T NP_653091.3:p.Ile508Leu
NM_170589.4:c.1600A>T NP_733468.3:p.Ile534Leu
XM_011521816.1:c.1198A>T XP_011520118.1:p.Ile400Leu
XM_011521817.1:c.1522A>T XP_011520119.1:p.Ile508Leu
XM_017022432.1:c.1198A>T XP_016877921.1:p.Ile400Leu
NM_144508.5:c.1522A>T MANE Select NP_653091.3:p.Ile508Leu
NM_170589.5:c.1600A>T NP_733468.3:p.Ile534Leu