Canonical Allele Identifier: CA7482686

Gene: KNL1

Linked Data

• dbSNP Id: rs774795840
• ExAC: 15:40914003 C / T
• gnomAD v2: 15-40914003-C-T
• gnomAD v3: 15-40621805-C-T
• gnomAD v4: 15-40621805-C-T
• MyVariant Identifiers: chr15:g.40914003C>T (hg19) ; chr15:g.40621805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621805C>T , CM000677.2:g.40621805C>T	GRCh38
NC_000015.9:g.40914003C>T , CM000677.1:g.40914003C>T	GRCh37
NC_000015.8:g.38701295C>T	NCBI36
NG_033114.1:g.32557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1541C>T MANE Select	ENSP00000382576.3:p.Pro514Leu
ENST00000346991.9:c.1619C>T	ENSP00000335463.6:p.Pro540Leu
ENST00000399668.6:c.1541C>T	ENSP00000382576.2:p.Pro514Leu
ENST00000527044.5:c.1541C>T	ENSP00000432654.2:p.Pro514Leu
ENST00000533001.1:n.1686C>T
ENST00000534204.1:c.116-7519C>T	ENSP00000453857.1:n.116-7519C>T
ENST00000614337.4:n.1857C>T
NM_144508.4:c.1541C>T	NP_653091.3:p.Pro514Leu
NM_170589.4:c.1619C>T	NP_733468.3:p.Pro540Leu
XM_011521816.1:c.1217C>T	XP_011520118.1:p.Pro406Leu
XM_011521817.1:c.1541C>T	XP_011520119.1:p.Pro514Leu
XM_017022432.1:c.1217C>T	XP_016877921.1:p.Pro406Leu
NM_144508.5:c.1541C>T MANE Select	NP_653091.3:p.Pro514Leu
NM_170589.5:c.1619C>T	NP_733468.3:p.Pro540Leu