Canonical Allele Identifier: CA391773166

Gene: KNL1

Linked Data

• dbSNP Id: rs1444916452
• gnomAD v2: 15-40943674-T-C
• gnomAD v3: 15-40651476-T-C
• gnomAD v4: 15-40651476-T-C
• MyVariant Identifiers: chr15:g.40943674T>C (hg19) ; chr15:g.40651476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40651476T>C , CM000677.2:g.40651476T>C	GRCh38
NC_000015.9:g.40943674T>C , CM000677.1:g.40943674T>C	GRCh37
NC_000015.8:g.38730966T>C	NCBI36
NG_033114.1:g.62228T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399668.7:c.6218T>C MANE Select	ENSP00000382576.3:p.Leu2073Pro
ENST00000346991.9:c.6296T>C	ENSP00000335463.6:p.Leu2099Pro
ENST00000399668.6:c.6218T>C	ENSP00000382576.2:p.Leu2073Pro
ENST00000526913.5:c.3351T>C
ENST00000532347.1:n.298T>C
NM_144508.4:c.6218T>C	NP_653091.3:p.Leu2073Pro
NM_170589.4:c.6296T>C	NP_733468.3:p.Leu2099Pro
XM_011521816.1:c.5894T>C	XP_011520118.1:p.Leu1965Pro
XM_011521817.1:c.6218T>C	XP_011520119.1:p.Leu2073Pro
XM_017022432.1:c.5894T>C	XP_016877921.1:p.Leu1965Pro
NM_144508.5:c.6218T>C MANE Select	NP_653091.3:p.Leu2073Pro
NM_170589.5:c.6296T>C	NP_733468.3:p.Leu2099Pro