Canonical Allele Identifier: CA7482695

Gene: KNL1

Linked Data

• dbSNP Id: rs780182325
• ExAC: 15:40914050 G / A
• gnomAD v2: 15-40914050-G-A
• gnomAD v4: 15-40621852-G-A
• MyVariant Identifiers: chr15:g.40914050G>A (hg19) ; chr15:g.40621852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621852G>A , CM000677.2:g.40621852G>A	GRCh38
NC_000015.9:g.40914050G>A , CM000677.1:g.40914050G>A	GRCh37
NC_000015.8:g.38701342G>A	NCBI36
NG_033114.1:g.32604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1588G>A MANE Select	ENSP00000382576.3:p.Gly530Arg
ENST00000346991.9:c.1666G>A	ENSP00000335463.6:p.Gly556Arg
ENST00000399668.6:c.1588G>A	ENSP00000382576.2:p.Gly530Arg
ENST00000527044.5:c.1588G>A	ENSP00000432654.2:p.Gly530Arg
ENST00000533001.1:n.1733G>A
ENST00000534204.1:c.116-7472G>A	ENSP00000453857.1:n.116-7472G>A
ENST00000614337.4:n.1904G>A
NM_144508.4:c.1588G>A	NP_653091.3:p.Gly530Arg
NM_170589.4:c.1666G>A	NP_733468.3:p.Gly556Arg
XM_011521816.1:c.1264G>A	XP_011520118.1:p.Gly422Arg
XM_011521817.1:c.1588G>A	XP_011520119.1:p.Gly530Arg
XM_017022432.1:c.1264G>A	XP_016877921.1:p.Gly422Arg
NM_144508.5:c.1588G>A MANE Select	NP_653091.3:p.Gly530Arg
NM_170589.5:c.1666G>A	NP_733468.3:p.Gly556Arg