Canonical Allele Identifier: CA129112

Gene: KIF22

Linked Data

• ClinVar Variation Id: 30334
• ClinVar RCV Id: RCV000023269 ; RCV000288912 ; RCV001265811
• dbSNP Id: rs193922921
• gnomAD v4: 16-29798641-C-T
• MyVariant Identifiers: chr16:g.29809962C>T (hg19) ; chr16:g.29798641C>T (hg38)
• PubMed: PMID:19277648 ; PMID:22152677 ; PMID:22152678

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29798641C>T , CM000678.2:g.29798641C>T	GRCh38
NC_000016.9:g.29809962C>T , CM000678.1:g.29809962C>T	GRCh37
NC_000016.8:g.29717463C>T	NCBI36
NG_032055.1:g.12929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561482.6:c.239C>T	ENSP00000454957.1:p.Pro80Leu
ENST00000563263.2:n.828C>T
ENST00000563666.2:n.472C>T
ENST00000569382.3:c.443C>T	ENSP00000456165.3:p.Pro148Leu
ENST00000569636.7:c.438C>T	ENSP00000457176.3:p.Pro146=
ENST00000570173.6:c.*178C>T	ENSP00000455702.1:n.*178C>T
ENST00000685401.1:c.443C>T	ENSP00000509077.1:p.Pro148Leu
ENST00000685526.1:c.443C>T	ENSP00000510465.1:p.Pro148Leu
ENST00000685961.1:c.177C>T
ENST00000686384.1:n.455C>T
ENST00000687634.1:c.177C>T
ENST00000688492.1:n.320C>T
ENST00000689089.1:c.443C>T	ENSP00000509109.1:p.Pro148Leu
ENST00000689107.1:c.443C>T	ENSP00000509175.1:p.Pro148Leu
ENST00000689172.1:c.443C>T	ENSP00000508827.1:p.Pro148Leu
ENST00000689660.1:c.443C>T	ENSP00000509285.1:p.Pro148Leu
ENST00000689743.1:n.472C>T
ENST00000690258.1:c.239C>T	ENSP00000509977.1:p.Pro80Leu
ENST00000690419.1:c.443C>T	ENSP00000509446.1:p.Pro148Leu
ENST00000690510.1:n.452C>T
ENST00000691128.1:c.443C>T	ENSP00000509922.1:p.Pro148Leu
ENST00000691169.1:n.476C>T
ENST00000691203.1:n.453C>T
ENST00000691486.1:c.177C>T
ENST00000691895.1:c.443C>T	ENSP00000510045.1:p.Pro148Leu
ENST00000693260.1:c.443C>T	ENSP00000509562.1:p.Pro148Leu
ENST00000160827.9:c.443C>T MANE Select	ENSP00000160827.5:p.Pro148Leu
ENST00000160827.8:c.443C>T	ENSP00000160827.4:p.Pro148Leu
ENST00000400751.9:c.239C>T	ENSP00000383562.5:p.Pro80Leu
ENST00000561482.5:c.239C>T	ENSP00000454957.1:p.Pro80Leu
ENST00000563666.1:n.278C>T
ENST00000569382.2:c.239C>T	ENSP00000456165.2:p.Pro80Leu
ENST00000569636.6:c.239C>T	ENSP00000457176.2:p.Pro80Leu
ENST00000570173.5:c.*178C>T	ENSP00000455702.1:n.*178C>T
NM_001256269.1:c.239C>T	NP_001243198.1:p.Pro80Leu
NM_001256270.1:c.239C>T	NP_001243199.1:p.Pro80Leu
NM_007317.2:c.443C>T	NP_015556.1:p.Pro148Leu
XR_243280.2:n.1141C>T
XM_024450270.1:c.443C>T	XP_024306038.1:p.Pro148Leu
XR_243280.4:n.469C>T
NM_001256269.2:c.239C>T	NP_001243198.1:p.Pro80Leu
NM_007317.3:c.443C>T MANE Select	NP_015556.1:p.Pro148Leu