Canonical Allele Identifier: CA7482683

Gene: KNL1

Linked Data

• ClinVar Variation Id: 886515
• ClinVar RCV Id: RCV001118747 ; RCV003945829
• dbSNP Id: rs199699274
• ExAC: 15:40913985 T / A
• gnomAD v2: 15-40913985-T-A
• gnomAD v3: 15-40621787-T-A
• gnomAD v4: 15-40621787-T-A
• MyVariant Identifiers: chr15:g.40913985T>A (hg19) ; chr15:g.40621787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621787T>A , CM000677.2:g.40621787T>A	GRCh38
NC_000015.9:g.40913985T>A , CM000677.1:g.40913985T>A	GRCh37
NC_000015.8:g.38701277T>A	NCBI36
NG_033114.1:g.32539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1523T>A MANE Select	ENSP00000382576.3:p.Ile508Lys
ENST00000346991.9:c.1601T>A	ENSP00000335463.6:p.Ile534Lys
ENST00000399668.6:c.1523T>A	ENSP00000382576.2:p.Ile508Lys
ENST00000527044.5:c.1523T>A	ENSP00000432654.2:p.Ile508Lys
ENST00000533001.1:n.1668T>A
ENST00000534204.1:c.116-7537T>A	ENSP00000453857.1:n.116-7537T>A
ENST00000614337.4:n.1839T>A
NM_144508.4:c.1523T>A	NP_653091.3:p.Ile508Lys
NM_170589.4:c.1601T>A	NP_733468.3:p.Ile534Lys
XM_011521816.1:c.1199T>A	XP_011520118.1:p.Ile400Lys
XM_011521817.1:c.1523T>A	XP_011520119.1:p.Ile508Lys
XM_017022432.1:c.1199T>A	XP_016877921.1:p.Ile400Lys
NM_144508.5:c.1523T>A MANE Select	NP_653091.3:p.Ile508Lys
NM_170589.5:c.1601T>A	NP_733468.3:p.Ile534Lys