Canonical Allele Identifier: CA152146

Gene: KNL1

Linked Data

• ClinVar Variation Id: 128577
• ClinVar RCV Id: RCV000116549 ; RCV000947612 ; RCV001117106
• dbSNP Id: rs59648663
• ExAC: 15:40913955 T / A
• gnomAD v2: 15-40913955-T-A
• gnomAD v3: 15-40621757-T-A
• gnomAD v4: 15-40621757-T-A
• MyVariant Identifiers: chr15:g.40913955T>A (hg19) ; chr15:g.40621757T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621757T>A , CM000677.2:g.40621757T>A	GRCh38
NC_000015.9:g.40913955T>A , CM000677.1:g.40913955T>A	GRCh37
NC_000015.8:g.38701247T>A	NCBI36
NG_033114.1:g.32509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1493T>A MANE Select	ENSP00000382576.3:p.Ile498Asn
ENST00000346991.9:c.1571T>A	ENSP00000335463.6:p.Ile524Asn
ENST00000399668.6:c.1493T>A	ENSP00000382576.2:p.Ile498Asn
ENST00000527044.5:c.1493T>A	ENSP00000432654.2:p.Ile498Asn
ENST00000533001.1:n.1638T>A
ENST00000534204.1:c.116-7567T>A	ENSP00000453857.1:n.116-7567T>A
ENST00000614337.4:n.1809T>A
NM_144508.4:c.1493T>A	NP_653091.3:p.Ile498Asn
NM_170589.4:c.1571T>A	NP_733468.3:p.Ile524Asn
XM_011521816.1:c.1169T>A	XP_011520118.1:p.Ile390Asn
XM_011521817.1:c.1493T>A	XP_011520119.1:p.Ile498Asn
XM_017022432.1:c.1169T>A	XP_016877921.1:p.Ile390Asn
NM_144508.5:c.1493T>A MANE Select	NP_653091.3:p.Ile498Asn
NM_170589.5:c.1571T>A	NP_733468.3:p.Ile524Asn