Canonical Allele Identifier: CA391732384

Gene: KNL1

Linked Data

• dbSNP Id: rs1237362048
• gnomAD v2: 15-40914002-C-G
• gnomAD v3: 15-40621804-C-G
• gnomAD v4: 15-40621804-C-G
• MyVariant Identifiers: chr15:g.40914002C>G (hg19) ; chr15:g.40621804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621804C>G , CM000677.2:g.40621804C>G	GRCh38
NC_000015.9:g.40914002C>G , CM000677.1:g.40914002C>G	GRCh37
NC_000015.8:g.38701294C>G	NCBI36
NG_033114.1:g.32556C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1540C>G MANE Select	ENSP00000382576.3:p.Pro514Ala
ENST00000346991.9:c.1618C>G	ENSP00000335463.6:p.Pro540Ala
ENST00000399668.6:c.1540C>G	ENSP00000382576.2:p.Pro514Ala
ENST00000527044.5:c.1540C>G	ENSP00000432654.2:p.Pro514Ala
ENST00000533001.1:n.1685C>G
ENST00000534204.1:c.116-7520C>G	ENSP00000453857.1:n.116-7520C>G
ENST00000614337.4:n.1856C>G
NM_144508.4:c.1540C>G	NP_653091.3:p.Pro514Ala
NM_170589.4:c.1618C>G	NP_733468.3:p.Pro540Ala
XM_011521816.1:c.1216C>G	XP_011520118.1:p.Pro406Ala
XM_011521817.1:c.1540C>G	XP_011520119.1:p.Pro514Ala
XM_017022432.1:c.1216C>G	XP_016877921.1:p.Pro406Ala
NM_144508.5:c.1540C>G MANE Select	NP_653091.3:p.Pro514Ala
NM_170589.5:c.1618C>G	NP_733468.3:p.Pro540Ala