Canonical Allele Identifier: CA338342435

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 2497126
• ClinVar RCV Id: RCV004283451
• dbSNP Id: rs1225250002
• gnomAD v2: 1-10405956-A-G
• MyVariant Identifiers: chr1:g.10405956A>G (hg19) ; chr1:g.10345898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10345898A>G , CM000663.2:g.10345898A>G	GRCh38
NC_000001.10:g.10405956A>G , CM000663.1:g.10405956A>G	GRCh37
NC_000001.9:g.10328543A>G	NCBI36
NG_008069.1:g.140193A>G , LRG_252:g.140193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3805A>G	ENSP00000512668.1:p.Ser1269Gly
ENST00000696503.1:c.3667A>G	ENSP00000512669.1:p.Ser1223Gly
ENST00000696504.1:c.3667A>G	ENSP00000512670.1:p.Ser1223Gly
ENST00000676179.1:c.3742A>G MANE Select	ENSP00000502065.1:p.Ser1248Gly
ENST00000263934.10:c.3604A>G	ENSP00000263934.6:p.Ser1202Gly
ENST00000377081.5:c.3742A>G	ENSP00000366284.1:p.Ser1248Gly
ENST00000377086.5:c.3742A>G	ENSP00000366290.1:p.Ser1248Gly
ENST00000465635.5:n.197A>G
ENST00000483340.1:n.278A>G
ENST00000620295.2:c.3700A>G	ENSP00000478500.1:p.Ser1234Gly
ENST00000622724.3:c.3664A>G	ENSP00000480063.1:p.Ser1222Gly
NM_015074.3:c.3604A>G , LRG_252t1:c.3604A>G	NP_055889.2:p.Ser1202Gly
NM_001365951.1:c.3742A>G	NP_001352880.1:p.Ser1248Gly
NM_001365952.1:c.3742A>G	NP_001352881.1:p.Ser1248Gly
NM_001365951.3:c.3742A>G MANE Select	NP_001352880.1:p.Ser1248Gly