Canonical Allele Identifier: CA10635967

Gene: KNL1

Linked Data

• ClinVar Variation Id: 315846
• ClinVar RCV Id: RCV000378550
• dbSNP Id: rs777990077
• gnomAD v2: 15-40913753-T-C
• gnomAD v4: 15-40621555-T-C
• MyVariant Identifiers: chr15:g.40913753T>C (hg19) ; chr15:g.40621555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621555T>C , CM000677.2:g.40621555T>C	GRCh38
NC_000015.9:g.40913753T>C , CM000677.1:g.40913753T>C	GRCh37
NC_000015.8:g.38701045T>C	NCBI36
NG_033114.1:g.32307T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399668.7:c.1291T>C MANE Select	ENSP00000382576.3:p.Ser431Pro
ENST00000346991.9:c.1369T>C	ENSP00000335463.6:p.Ser457Pro
ENST00000399668.6:c.1291T>C	ENSP00000382576.2:p.Ser431Pro
ENST00000527044.5:c.1291T>C	ENSP00000432654.2:p.Ser431Pro
ENST00000533001.1:n.1436T>C
ENST00000534204.1:c.116-7769T>C	ENSP00000453857.1:n.116-7769T>C
ENST00000614337.4:n.1607T>C
NM_144508.4:c.1291T>C	NP_653091.3:p.Ser431Pro
NM_170589.4:c.1369T>C	NP_733468.3:p.Ser457Pro
XM_011521816.1:c.967T>C	XP_011520118.1:p.Ser323Pro
XM_011521817.1:c.1291T>C	XP_011520119.1:p.Ser431Pro
XM_017022432.1:c.967T>C	XP_016877921.1:p.Ser323Pro
NM_144508.5:c.1291T>C MANE Select	NP_653091.3:p.Ser431Pro
NM_170589.5:c.1369T>C	NP_733468.3:p.Ser457Pro