Canonical Allele Identifier: CA391732667

Gene: KNL1

Linked Data

• dbSNP Id: rs1318342015
• gnomAD v2: 15-40914039-C-T
• gnomAD v4: 15-40621841-C-T
• MyVariant Identifiers: chr15:g.40914039C>T (hg19) ; chr15:g.40621841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621841C>T , CM000677.2:g.40621841C>T	GRCh38
NC_000015.9:g.40914039C>T , CM000677.1:g.40914039C>T	GRCh37
NC_000015.8:g.38701331C>T	NCBI36
NG_033114.1:g.32593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1577C>T MANE Select	ENSP00000382576.3:p.Thr526Ile
ENST00000346991.9:c.1655C>T	ENSP00000335463.6:p.Thr552Ile
ENST00000399668.6:c.1577C>T	ENSP00000382576.2:p.Thr526Ile
ENST00000527044.5:c.1577C>T	ENSP00000432654.2:p.Thr526Ile
ENST00000533001.1:n.1722C>T
ENST00000534204.1:c.116-7483C>T	ENSP00000453857.1:n.116-7483C>T
ENST00000614337.4:n.1893C>T
NM_144508.4:c.1577C>T	NP_653091.3:p.Thr526Ile
NM_170589.4:c.1655C>T	NP_733468.3:p.Thr552Ile
XM_011521816.1:c.1253C>T	XP_011520118.1:p.Thr418Ile
XM_011521817.1:c.1577C>T	XP_011520119.1:p.Thr526Ile
XM_017022432.1:c.1253C>T	XP_016877921.1:p.Thr418Ile
NM_144508.5:c.1577C>T MANE Select	NP_653091.3:p.Thr526Ile
NM_170589.5:c.1655C>T	NP_733468.3:p.Thr552Ile