Canonical Allele Identifier: CA253243

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 4658
• ClinVar RCV Id: RCV000004921
• dbSNP Id: rs121908160
• MyVariant Identifiers: chr1:g.10318660A>T (hg19) ; chr1:g.10258602A>T (hg38)
• PubMed: PMID:9409358 ; PMID:11389829 ; PMID:20301462

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10258602A>T , CM000663.2:g.10258602A>T	GRCh38
NC_000001.10:g.10318660A>T , CM000663.1:g.10318660A>T	GRCh37
NC_000001.9:g.10241247A>T	NCBI36
NG_008069.1:g.52897A>T , LRG_252:g.52897A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.293A>T	ENSP00000512666.1:p.Gln98Leu
ENST00000696501.1:c.293A>T	ENSP00000512667.1:p.Gln98Leu
ENST00000696502.1:c.293A>T	ENSP00000512668.1:p.Gln98Leu
ENST00000696503.1:c.293A>T	ENSP00000512669.1:p.Gln98Leu
ENST00000696504.1:c.293A>T	ENSP00000512670.1:p.Gln98Leu
ENST00000696506.1:c.293A>T	ENSP00000512672.1:p.Gln98Leu
ENST00000377093.9:c.293A>T	ENSP00000366297.4:p.Gln98Leu
ENST00000676179.1:c.293A>T MANE Select	ENSP00000502065.1:p.Gln98Leu
ENST00000263934.10:c.293A>T	ENSP00000263934.6:p.Gln98Leu
ENST00000377081.5:c.293A>T	ENSP00000366284.1:p.Gln98Leu
ENST00000377083.5:c.293A>T	ENSP00000366287.1:p.Gln98Leu
ENST00000377086.5:c.293A>T	ENSP00000366290.1:p.Gln98Leu
ENST00000377093.8:c.293A>T	ENSP00000366297.4:p.Gln98Leu
ENST00000620295.2:c.293A>T	ENSP00000478500.1:p.Gln98Leu
ENST00000622724.3:c.293A>T	ENSP00000480063.1:p.Gln98Leu
NM_015074.3:c.293A>T , LRG_252t1:c.293A>T	NP_055889.2:p.Gln98Leu
NM_183416.3:c.293A>T	NP_904325.2:p.Gln98Leu
NM_001365951.1:c.293A>T	NP_001352880.1:p.Gln98Leu
NM_001365952.1:c.293A>T	NP_001352881.1:p.Gln98Leu
NM_001365953.1:c.293A>T	NP_001352882.1:p.Gln98Leu
NM_001365951.3:c.293A>T MANE Select	NP_001352880.1:p.Gln98Leu
NM_183416.4:c.293A>T	NP_904325.2:p.Gln98Leu