Canonical Allele Identifier: CA391773515

Gene: KNL1

Linked Data

• dbSNP Id: rs983782884
• gnomAD v2: 15-40943746-C-T
• gnomAD v3: 15-40651548-C-T
• gnomAD v4: 15-40651548-C-T
• MyVariant Identifiers: chr15:g.40943746C>T (hg19) ; chr15:g.40651548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40651548C>T , CM000677.2:g.40651548C>T	GRCh38
NC_000015.9:g.40943746C>T , CM000677.1:g.40943746C>T	GRCh37
NC_000015.8:g.38731038C>T	NCBI36
NG_033114.1:g.62300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.6290C>T MANE Select	ENSP00000382576.3:p.Thr2097Ile
ENST00000346991.9:c.6368C>T	ENSP00000335463.6:p.Thr2123Ile
ENST00000399668.6:c.6290C>T	ENSP00000382576.2:p.Thr2097Ile
ENST00000526913.5:c.3423C>T
ENST00000532347.1:n.370C>T
NM_144508.4:c.6290C>T	NP_653091.3:p.Thr2097Ile
NM_170589.4:c.6368C>T	NP_733468.3:p.Thr2123Ile
XM_011521816.1:c.5966C>T	XP_011520118.1:p.Thr1989Ile
XM_011521817.1:c.6290C>T	XP_011520119.1:p.Thr2097Ile
XM_017022432.1:c.5966C>T	XP_016877921.1:p.Thr1989Ile
NM_144508.5:c.6290C>T MANE Select	NP_653091.3:p.Thr2097Ile
NM_170589.5:c.6368C>T	NP_733468.3:p.Thr2123Ile