Canonical Allele Identifier: CA7482678

Gene: KNL1

Linked Data

• dbSNP Id: rs780091370
• ExAC: 15:40913943 T / C
• gnomAD v2: 15-40913943-T-C
• gnomAD v4: 15-40621745-T-C
• MyVariant Identifiers: chr15:g.40913943T>C (hg19) ; chr15:g.40621745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621745T>C , CM000677.2:g.40621745T>C	GRCh38
NC_000015.9:g.40913943T>C , CM000677.1:g.40913943T>C	GRCh37
NC_000015.8:g.38701235T>C	NCBI36
NG_033114.1:g.32497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1481T>C MANE Select	ENSP00000382576.3:p.Ile494Thr
ENST00000346991.9:c.1559T>C	ENSP00000335463.6:p.Ile520Thr
ENST00000399668.6:c.1481T>C	ENSP00000382576.2:p.Ile494Thr
ENST00000527044.5:c.1481T>C	ENSP00000432654.2:p.Ile494Thr
ENST00000533001.1:n.1626T>C
ENST00000534204.1:c.116-7579T>C	ENSP00000453857.1:n.116-7579T>C
ENST00000614337.4:n.1797T>C
NM_144508.4:c.1481T>C	NP_653091.3:p.Ile494Thr
NM_170589.4:c.1559T>C	NP_733468.3:p.Ile520Thr
XM_011521816.1:c.1157T>C	XP_011520118.1:p.Ile386Thr
XM_011521817.1:c.1481T>C	XP_011520119.1:p.Ile494Thr
XM_017022432.1:c.1157T>C	XP_016877921.1:p.Ile386Thr
NM_144508.5:c.1481T>C MANE Select	NP_653091.3:p.Ile494Thr
NM_170589.5:c.1559T>C	NP_733468.3:p.Ile520Thr