Canonical Allele Identifier: CA581573

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1421525
• ClinVar RCV Id: RCV001943820 ; RCV003233037 ; RCV004044110
• dbSNP Id: rs755850268
• ExAC: 1:10384920 A / G
• gnomAD v2: 1-10384920-A-G
• gnomAD v3: 1-10324862-A-G
• gnomAD v4: 1-10324862-A-G
• MyVariant Identifiers: chr1:g.10384920A>G (hg19) ; chr1:g.10324862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10324862A>G , CM000663.2:g.10324862A>G	GRCh38
NC_000001.10:g.10384920A>G , CM000663.1:g.10384920A>G	GRCh37
NC_000001.9:g.10307507A>G	NCBI36
NG_008069.1:g.119157A>G , LRG_252:g.119157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2504A>G	ENSP00000512668.1:p.Tyr835Cys
ENST00000696503.1:c.2567A>G	ENSP00000512669.1:p.Tyr856Cys
ENST00000696504.1:c.2567A>G	ENSP00000512670.1:p.Tyr856Cys
ENST00000676179.1:c.2642A>G MANE Select	ENSP00000502065.1:p.Tyr881Cys
ENST00000263934.10:c.2504A>G	ENSP00000263934.6:p.Tyr835Cys
ENST00000377081.5:c.2642A>G	ENSP00000366284.1:p.Tyr881Cys
ENST00000377086.5:c.2642A>G	ENSP00000366290.1:p.Tyr881Cys
ENST00000620295.2:c.2600A>G	ENSP00000478500.1:p.Tyr867Cys
ENST00000622724.3:c.2564A>G	ENSP00000480063.1:p.Tyr855Cys
NM_015074.3:c.2504A>G , LRG_252t1:c.2504A>G	NP_055889.2:p.Tyr835Cys
NM_001365951.1:c.2642A>G	NP_001352880.1:p.Tyr881Cys
NM_001365952.1:c.2642A>G	NP_001352881.1:p.Tyr881Cys
NM_001365951.3:c.2642A>G MANE Select	NP_001352880.1:p.Tyr881Cys