Canonical Allele Identifier: CA338342095

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1732198
• ClinVar RCV Id: RCV004048705
• dbSNP Id: rs2102323732
• gnomAD v4: 1-10343252-G-A
• MyVariant Identifiers: chr1:g.10403310G>A (hg19) ; chr1:g.10343252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10343252G>A , CM000663.2:g.10343252G>A	GRCh38
NC_000001.10:g.10403310G>A , CM000663.1:g.10403310G>A	GRCh37
NC_000001.9:g.10325897G>A	NCBI36
NG_008069.1:g.137547G>A , LRG_252:g.137547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3515G>A	ENSP00000512668.1:p.Arg1172Gln
ENST00000696503.1:c.3578G>A	ENSP00000512669.1:p.Arg1193Gln
ENST00000696504.1:c.3578G>A	ENSP00000512670.1:p.Arg1193Gln
ENST00000676179.1:c.3653G>A MANE Select	ENSP00000502065.1:p.Arg1218Gln
ENST00000263934.10:c.3515G>A	ENSP00000263934.6:p.Arg1172Gln
ENST00000377081.5:c.3653G>A	ENSP00000366284.1:p.Arg1218Gln
ENST00000377086.5:c.3653G>A	ENSP00000366290.1:p.Arg1218Gln
ENST00000620295.2:c.3611G>A	ENSP00000478500.1:p.Arg1204Gln
ENST00000622724.3:c.3575G>A	ENSP00000480063.1:p.Arg1192Gln
NM_015074.3:c.3515G>A , LRG_252t1:c.3515G>A	NP_055889.2:p.Arg1172Gln
NM_001365951.1:c.3653G>A	NP_001352880.1:p.Arg1218Gln
NM_001365952.1:c.3653G>A	NP_001352881.1:p.Arg1218Gln
NM_001365951.3:c.3653G>A MANE Select	NP_001352880.1:p.Arg1218Gln