Canonical Allele Identifier: CA152160
Gene: KNL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128588
ClinVar RCV Id: RCV000116560 RCV000280144 RCV001554580
dbSNP Id: rs2412541
ExAC: 15:40913840 G / T
gnomAD v2: 15-40913840-G-T
gnomAD v3: 15-40621642-G-T
gnomAD v4: 15-40621642-G-T
MyVariant Identifiers: chr15:g.40913840G>T (hg19) chr15:g.40621642G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40621642G>T , CM000677.2:g.40621642G>T GRCh38
NC_000015.9:g.40913840G>T , CM000677.1:g.40913840G>T GRCh37
NC_000015.8:g.38701132G>T NCBI36
NG_033114.1:g.32394G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399668.7:c.1378G>T MANE Select ENSP00000382576.3:p.Ala460Ser
ENST00000346991.9:c.1456G>T ENSP00000335463.6:p.Ala486Ser
ENST00000399668.6:c.1378G>T ENSP00000382576.2:p.Ala460Ser
ENST00000527044.5:c.1378G>T ENSP00000432654.2:p.Ala460Ser
ENST00000533001.1:n.1523G>T
ENST00000534204.1:c.116-7682G>T ENSP00000453857.1:n.116-7682G>T
ENST00000614337.4:n.1694G>T
NM_144508.4:c.1378G>T NP_653091.3:p.Ala460Ser
NM_170589.4:c.1456G>T NP_733468.3:p.Ala486Ser
XM_011521816.1:c.1054G>T XP_011520118.1:p.Ala352Ser
XM_011521817.1:c.1378G>T XP_011520119.1:p.Ala460Ser
XM_017022432.1:c.1054G>T XP_016877921.1:p.Ala352Ser
NM_144508.5:c.1378G>T MANE Select NP_653091.3:p.Ala460Ser
NM_170589.5:c.1456G>T NP_733468.3:p.Ala486Ser
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