Canonical Allele Identifier: CA391730529

Gene: KNL1

Linked Data

• gnomAD v4: 15-40621544-C-T
• MyVariant Identifiers: chr15:g.40913742C>T (hg19) ; chr15:g.40621544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621544C>T , CM000677.2:g.40621544C>T	GRCh38
NC_000015.9:g.40913742C>T , CM000677.1:g.40913742C>T	GRCh37
NC_000015.8:g.38701034C>T	NCBI36
NG_033114.1:g.32296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399668.7:c.1280C>T MANE Select	ENSP00000382576.3:p.Thr427Ile
ENST00000346991.9:c.1358C>T	ENSP00000335463.6:p.Thr453Ile
ENST00000399668.6:c.1280C>T	ENSP00000382576.2:p.Thr427Ile
ENST00000527044.5:c.1280C>T	ENSP00000432654.2:p.Thr427Ile
ENST00000533001.1:n.1425C>T
ENST00000534204.1:c.116-7780C>T	ENSP00000453857.1:n.116-7780C>T
ENST00000614337.4:n.1596C>T
NM_144508.4:c.1280C>T	NP_653091.3:p.Thr427Ile
NM_170589.4:c.1358C>T	NP_733468.3:p.Thr453Ile
XM_011521816.1:c.956C>T	XP_011520118.1:p.Thr319Ile
XM_011521817.1:c.1280C>T	XP_011520119.1:p.Thr427Ile
XM_017022432.1:c.956C>T	XP_016877921.1:p.Thr319Ile
NM_144508.5:c.1280C>T MANE Select	NP_653091.3:p.Thr427Ile
NM_170589.5:c.1358C>T	NP_733468.3:p.Thr453Ile