Canonical Allele Identifier: CA391733294

Gene: KNL1

Linked Data

• dbSNP Id: rs1325179180
• gnomAD v2: 15-40914122-C-T
• gnomAD v4: 15-40621924-C-T
• MyVariant Identifiers: chr15:g.40914122C>T (hg19) ; chr15:g.40621924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621924C>T , CM000677.2:g.40621924C>T	GRCh38
NC_000015.9:g.40914122C>T , CM000677.1:g.40914122C>T	GRCh37
NC_000015.8:g.38701414C>T	NCBI36
NG_033114.1:g.32676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1660C>T MANE Select	ENSP00000382576.3:p.Pro554Ser
ENST00000346991.9:c.1738C>T	ENSP00000335463.6:p.Pro580Ser
ENST00000399668.6:c.1660C>T	ENSP00000382576.2:p.Pro554Ser
ENST00000527044.5:c.1660C>T	ENSP00000432654.2:p.Pro554Ser
ENST00000533001.1:n.1805C>T
ENST00000534204.1:c.116-7400C>T	ENSP00000453857.1:n.116-7400C>T
ENST00000614337.4:n.1976C>T
NM_144508.4:c.1660C>T	NP_653091.3:p.Pro554Ser
NM_170589.4:c.1738C>T	NP_733468.3:p.Pro580Ser
XM_011521816.1:c.1336C>T	XP_011520118.1:p.Pro446Ser
XM_011521817.1:c.1660C>T	XP_011520119.1:p.Pro554Ser
XM_017022432.1:c.1336C>T	XP_016877921.1:p.Pro446Ser
NM_144508.5:c.1660C>T MANE Select	NP_653091.3:p.Pro554Ser
NM_170589.5:c.1738C>T	NP_733468.3:p.Pro580Ser