Canonical Allele Identifier: CA270941

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 157531
• ClinVar RCV Id: RCV000144876 ; RCV000167979 ; RCV001530983 ; RCV004019760
• dbSNP Id: rs373698346
• ExAC: 1:10335502 A / G
• gnomAD v2: 1-10335502-A-G
• gnomAD v3: 1-10275444-A-G
• gnomAD v4: 1-10275444-A-G
• MyVariant Identifiers: chr1:g.10335502A>G (hg19) ; chr1:g.10275444A>G (hg38)
• PubMed: PMID:4306395 ; PMID:25025039

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10275444A>G , CM000663.2:g.10275444A>G	GRCh38
NC_000001.10:g.10335502A>G , CM000663.1:g.10335502A>G	GRCh37
NC_000001.9:g.10258089A>G	NCBI36
NG_008069.1:g.69739A>G , LRG_252:g.69739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.*53A>G	ENSP00000512666.1:n.*53A>G
ENST00000696502.1:c.881A>G	ENSP00000512668.1:p.Lys294Arg
ENST00000696503.1:c.881A>G	ENSP00000512669.1:p.Lys294Arg
ENST00000696504.1:c.881A>G	ENSP00000512670.1:p.Lys294Arg
ENST00000377093.9:c.881A>G	ENSP00000366297.4:p.Lys294Arg
ENST00000676179.1:c.899A>G MANE Select	ENSP00000502065.1:p.Lys300Arg
ENST00000263934.10:c.881A>G	ENSP00000263934.6:p.Lys294Arg
ENST00000377081.5:c.899A>G	ENSP00000366284.1:p.Lys300Arg
ENST00000377083.5:c.881A>G	ENSP00000366287.1:p.Lys294Arg
ENST00000377086.5:c.899A>G	ENSP00000366290.1:p.Lys300Arg
ENST00000377093.8:c.881A>G	ENSP00000366297.4:p.Lys294Arg
ENST00000620295.2:c.899A>G	ENSP00000478500.1:p.Lys300Arg
ENST00000622724.3:c.899A>G	ENSP00000480063.1:p.Lys300Arg
NM_015074.3:c.881A>G , LRG_252t1:c.881A>G	NP_055889.2:p.Lys294Arg
NM_183416.3:c.881A>G	NP_904325.2:p.Lys294Arg
NM_001365951.1:c.899A>G	NP_001352880.1:p.Lys300Arg
NM_001365952.1:c.899A>G	NP_001352881.1:p.Lys300Arg
NM_001365953.1:c.881A>G	NP_001352882.1:p.Lys294Arg
NM_001365951.3:c.899A>G MANE Select	NP_001352880.1:p.Lys300Arg
NM_183416.4:c.881A>G	NP_904325.2:p.Lys294Arg